| Year |
Citation |
Score |
| 2023 |
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, et al. A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities. American Journal of Medical Genetics. Part A. PMID 37387251 DOI: 10.1002/ajmg.a.63335 |
0.31 |
|
| 2023 |
Ballouhey O, Chapoton M, Alary B, Courrier S, Da Silva N, Krahn M, Lévy N, Weisleder N, Bartoli M. A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy. Biomedicines. 11. PMID 37239109 DOI: 10.3390/biomedicines11051438 |
0.67 |
|
| 2022 |
El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, et al. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. Brain : a Journal of Neurology. PMID 36314052 DOI: 10.1093/brain/awac402 |
0.729 |
|
| 2022 |
Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, et al. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International Journal of Molecular Sciences. 23. PMID 35955641 DOI: 10.3390/ijms23158506 |
0.653 |
|
| 2022 |
Abaji M, Gorokhova S, Da Silva N, Busa T, Grelet M, Missirian C, Sigaudy S, Philip N, Leturcq F, Lévy N, Krahn M, Bartoli M. Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49. Genes. 13. PMID 35886062 DOI: 10.3390/genes13071277 |
0.695 |
|
| 2022 |
Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, et al. HINT1 Neuropathy: expanding the genotype and phenotype spectrum. Clinical Genetics. PMID 35882622 DOI: 10.1111/cge.14198 |
0.619 |
|
| 2022 |
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, et al. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes. 13. PMID 35741838 DOI: 10.3390/genes13061076 |
0.688 |
|
| 2022 |
Harhouri K, Cau P, Casey F, Guedenon KM, Doubaj Y, Van Maldergem L, Mejia-Baltodano G, Bartoli C, De Sandre-Giovannoli A, Lévy N. MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells. Cells. 11. PMID 35203262 DOI: 10.3390/cells11040610 |
0.335 |
|
| 2021 |
Varlet AA, Desgrouas C, Jebane C, Bonello-Palot N, Bourgeois P, Levy N, Helfer E, Dubois N, Valero R, Badens C, Beliard S. A Rare Mutation in Associated with Lipodystrophy Drives Premature Cell Senescence. Cells. 11. PMID 35011612 DOI: 10.3390/cells11010050 |
0.337 |
|
| 2021 |
Ballouhey O, Courrier S, Kergourlay V, Gorokhova S, Cerino M, Krahn M, Lévy N, Bartoli M. The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions. Frontiers in Cell and Developmental Biology. 9: 754555. PMID 34888307 DOI: 10.3389/fcell.2021.754555 |
0.639 |
|
| 2021 |
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, et al. A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. Journal of Neuromuscular Diseases. PMID 34602496 DOI: 10.3233/JND-210652 |
0.569 |
|
| 2021 |
Nabouli I, Chikhaoui A, Othman H, Elouej S, Jones M, Lagarde A, Rekaya MB, Messaoud O, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Case Report: Identification of Novel Variants in and Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype. Frontiers in Genetics. 12: 650639. PMID 34135938 DOI: 10.3389/fgene.2021.650639 |
0.677 |
|
| 2021 |
Charnay T, Blanck V, Cerino M, Bartoli M, Riccardi F, Bonello-Palot N, Pécheux C, Nguyen K, Lévy N, Gorokhova S, Krahn M. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33927379 DOI: 10.1038/s41436-021-01164-3 |
0.641 |
|
| 2021 |
Salvi A, Maues De Paula A, Lévy N, Attarian S, Bartoli M. Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca Entry Units in Aged Muscle. Frontiers in Physiology. 12: 663677. PMID 33868028 DOI: 10.3389/fphys.2021.663677 |
0.575 |
|
| 2021 |
Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical Genetics. PMID 33733462 DOI: 10.1111/cge.13959 |
0.796 |
|
| 2021 |
Ben Haj Ali A, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre-Giovannoli A, Delague V, Lévy N, Bogliolo M, Surrallés J, Abdelhak S, Amouri A. Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics. 12: 610050. PMID 33679882 DOI: 10.3389/fgene.2021.610050 |
0.675 |
|
| 2021 |
Gargaun E, Falcone S, Solé G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Béroud C, et al. The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD. Biomedicines. 9. PMID 33672764 DOI: 10.3390/biomedicines9020219 |
0.309 |
|
| 2020 |
Cerino M, Bartoli M, Riccardi F, Le Goanvic B, Blanck V, Salvi A, Lévy N, Krahn M, Choumert A. Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Annals of Clinical and Translational Neurology. PMID 33107701 DOI: 10.1002/acn3.51193 |
0.61 |
|
| 2020 |
Cerino M, Salort-Campana E, Gorokhova S, Sevy A, Bonello-Palot N, Levy N, Attarian S, Bartoli M, Krahn M. Refining NGS diagnosis of muscular disorders. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 32934002 DOI: 10.1136/Jnnp-2018-319254 |
0.71 |
|
| 2020 |
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, et al. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature Communications. 11: 4589. PMID 32917887 DOI: 10.1038/S41467-020-18146-9 |
0.37 |
|
| 2020 |
Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation. PMID 32668095 DOI: 10.1002/Humu.24083 |
0.701 |
|
| 2020 |
Benquey T, Fockens E, Kouton L, Delmont E, Martini N, Levy N, Attarian S, Bonello-Palot N. A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP. Journal of Neuromuscular Diseases. PMID 32538861 DOI: 10.3233/Jnd-190460 |
0.456 |
|
| 2020 |
Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. Molecular Genetics & Genomic Medicine. e1277. PMID 32537934 DOI: 10.1002/Mgg3.1277 |
0.681 |
|
| 2020 |
Ballouhey O, Bartoli M, Levy N. [CRISPR-Cas9 for muscle dystrophies]. Medecine Sciences : M/S. 36: 358-366. PMID 32356712 DOI: 10.1051/Medsci/2020081 |
0.691 |
|
| 2020 |
Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Morales RJ, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, De Paula AM, Lévy N, Pouget J, et al. Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and Applied Neurobiology. PMID 32342993 DOI: 10.1111/Nan.12624 |
0.694 |
|
| 2020 |
Gorokhov M, Cerino M, Mortreux J, Riccardi F, Lévy N, Bartoli M, Krahn M, Gorokhova S. A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific Reports. 10: 6247. PMID 32277129 DOI: 10.1038/S41598-020-63079-4 |
0.652 |
|
| 2020 |
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, Sacconi S, Echaniz-Laguna A, Kuntzer T, Levy N, Magdinier F, et al. Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. International Journal of Molecular Sciences. 21. PMID 32210100 DOI: 10.3390/Ijms21062221 |
0.347 |
|
| 2020 |
Desgrouas C, Varlet AA, Dutour A, Galant D, Merono F, Bonello-Palot N, Bourgeois P, Lasbleiz A, Petitjean C, Ancel P, Levy N, Badens C, Gaborit B. Unraveling Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls. Cells. 9. PMID 32012908 DOI: 10.3390/Cells9020310 |
0.445 |
|
| 2020 |
Jaouadi H, Bouyacoub Y, Chabrak S, Kraoua L, Zaroui A, Elouej S, Nagara M, Dallali H, Delague V, Levy N, Benkhalifa R, Mechmeche R, Zaffran S, Abdelhak S. Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young. Herz. PMID 31970460 DOI: 10.1007/S00059-019-04883-1 |
0.747 |
|
| 2020 |
Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M. Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. Journal of Human Genetics. PMID 31911611 DOI: 10.1038/S10038-019-0711-4 |
0.693 |
|
| 2019 |
Bonello-Palot N, Laine M, Cuisset T, Ronchard T, Desgrouas C, Merono F, Ibrahim-Kosta M, Cerino M, Blanchard A, Bourgeois P, Levy N, Loundou A, Morange PE, Alessi MC, Badens C, et al. High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome. Atherosclerosis. 293: 86-91. PMID 31877397 DOI: 10.1016/J.Atherosclerosis.2019.12.002 |
0.348 |
|
| 2019 |
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, et al. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. Journal of Human Genetics. PMID 31852984 DOI: 10.1038/S10038-019-0710-5 |
0.683 |
|
| 2019 |
Grelet M, Blanck V, Sigaudy S, Philip N, Giuliano F, Khachnaoui K, Morel G, Grotto S, Sophie J, Poirsier C, Lespinasse J, Alric L, Calvas P, Chalhoub G, Layet V, et al. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders. Orphanet Journal of Rare Diseases. 14: 288. PMID 31829210 DOI: 10.1186/S13023-019-1189-Z |
0.339 |
|
| 2019 |
El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. Human Molecular Genetics. PMID 31090908 DOI: 10.1093/Hmg/Ddz060 |
0.776 |
|
| 2019 |
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, et al. A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs). Annals of Neurology. PMID 31070812 DOI: 10.1002/Ana.25500 |
0.37 |
|
| 2019 |
Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Lévy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. Genetics Research. 101: e6. PMID 31030682 DOI: 10.1017/S0016672319000041 |
0.823 |
|
| 2019 |
Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654. PMID 31019989 DOI: 10.1002/Acn3.738 |
0.725 |
|
| 2019 |
Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, et al. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. Journal of Medical Genetics. PMID 31010831 DOI: 10.1136/Jmedgenet-2018-105949 |
0.36 |
|
| 2019 |
Romanet P, Odou MF, North MO, Saveanu A, Coppin L, Pasmant E, Mohamed A, Goudet P, Borson-Chazot F, Calender A, Béroud C, Lévy N, Giraud S, Barlier A. Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. Human Mutation. PMID 30869828 DOI: 10.1002/Humu.23746 |
0.37 |
|
| 2019 |
Chikhaoui A, Elouej S, Nabouli I, Jones M, Lagarde A, Ben Rekaya M, Messaoud O, Hamdi Y, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. Frontiers in Genetics. 10: 111. PMID 30838033 DOI: 10.3389/Fgene.2019.00111 |
0.705 |
|
| 2018 |
Guien C, Blandin G, Lahaut P, Sanson B, Nehal K, Rabarimeriarijaona S, Bernard R, Lévy N, Sacconi S, Béroud C. The French National Registry of patients with Facioscapulohumeral muscular dystrophy. Orphanet Journal of Rare Diseases. 13: 218. PMID 30514324 DOI: 10.1186/S13023-018-0960-X |
0.326 |
|
| 2018 |
Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. Bmj Open. 8: e021632. PMID 30373780 DOI: 10.1136/Bmjopen-2018-021632 |
0.657 |
|
| 2018 |
Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M. Dysferlin Exon 32 Skipping in Patient Cells. Methods in Molecular Biology (Clifton, N.J.). 1828: 489-496. PMID 30171562 DOI: 10.1007/978-1-4939-8651-4_31 |
0.705 |
|
| 2018 |
Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A. Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. Bmc Pediatrics. 18: 286. PMID 30157809 DOI: 10.1186/S12887-018-1259-8 |
0.642 |
|
| 2018 |
Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ. Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men. American Journal of Human Genetics. PMID 30122541 DOI: 10.1016/J.Ajhg.2018.07.013 |
0.654 |
|
| 2018 |
Renard D, Taieb G, Garibaldi M, Maues De Paula A, Bernard R, Lagha N, Cristofari G, Vovan C, Chaix C, Lévy N, Khau Van Kien P, Sacconi S. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. American Journal of Medical Genetics. Part A. PMID 30055030 DOI: 10.1002/Ajmg.A.38843 |
0.333 |
|
| 2018 |
Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. Journal of Human Genetics. PMID 30046096 DOI: 10.1038/S10038-018-0492-1 |
0.796 |
|
| 2018 |
Lo Cicero A, Saidani M, Allouche J, Egesipe AL, Hoch L, Bruge C, Sigaudy S, De Sandre-Giovannoli A, Levy N, Baldeschi C, Nissan X. Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. Scientific Reports. 8: 9112. PMID 29904107 DOI: 10.1038/S41598-018-27165-Y |
0.359 |
|
| 2018 |
Frankel D, Delecourt V, Harhouri K, De Sandre-Giovannoli A, Lévy N, Kaspi E, Roll P. MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies. Aging Cell. e12766. PMID 29696758 DOI: 10.1111/Acel.12766 |
0.323 |
|
| 2018 |
Harhouri K, Frankel D, Bartoli C, Roll P, De Sandre-Giovannoli A, Lévy N. An overview of treatment strategies for Hutchinson-Gilford Progeria Syndrome. Nucleus (Austin, Tex.). 1-27. PMID 29619863 DOI: 10.1080/19491034.2018.1460045 |
0.415 |
|
| 2018 |
Bourgeois P, Esteve C, Chaix C, Béroud C, Levy N, Fabre A, Badens C. Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. Human Mutation. PMID 29527791 DOI: 10.1002/Humu.23418 |
0.486 |
|
| 2018 |
Barthélémy F, Defour A, Lévy N, Krahn M, Bartoli M. Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet. Journal of Neuromuscular Diseases. 5: 21-28. PMID 29480214 DOI: 10.3233/Jnd-170251 |
0.667 |
|
| 2018 |
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, et al. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. American Journal of Human Genetics. PMID 29429573 DOI: 10.1016/J.Ajhg.2018.01.009 |
0.439 |
|
| 2017 |
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, et al. Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. Nature Medicine. PMID 28869610 DOI: 10.1038/Nm.4368 |
0.404 |
|
| 2017 |
Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, et al. Exome sequencing identifies recurrent BCOR gene alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. PMID 28751561 DOI: 10.3324/Haematol.2016.160192 |
0.354 |
|
| 2017 |
Nguyen K, Puppo F, Roche S, Gaillard MC, Chaix C, Lagarde A, Pierret M, Vovan C, Olschwang S, Salort-Campana E, Attarian S, Bartoli M, Bernard R, Magdinier F, Levy N. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral Dystrophy. Human Mutation. PMID 28744936 DOI: 10.1002/Humu.23304 |
0.693 |
|
| 2017 |
Harhouri K, Navarro C, Depetris D, Mattei MG, Nissan X, Cau P, De Sandre-Giovannoli A, Lévy N. MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation. Embo Molecular Medicine. PMID 28674081 DOI: 10.15252/Emmm.201607315 |
0.338 |
|
| 2017 |
Elkhatib RA, Paci M, Longepied G, Saias-Magnan J, Courbiere B, Guichaoua MR, Levy N, Metzler-Guillemain C, Mitchell MJ. Homozygous deletion of SUN5 in three men with decapitated spermatozoa. Human Molecular Genetics. PMID 28541472 DOI: 10.1093/Hmg/Ddx200 |
0.394 |
|
| 2017 |
Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). Metabolism: Clinical and Experimental. 71: 213-225. PMID 28521875 DOI: 10.1016/J.Metabol.2017.03.011 |
0.483 |
|
| 2017 |
Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M, et al. Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing. Muscle & Nerve. PMID 28256728 DOI: 10.1002/Mus.25638 |
0.702 |
|
| 2017 |
Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-Palot N, Badens C, Bourgeois P. [Next-generation DNA sequencing in clinical diagnostics]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie. PMID 28242148 DOI: 10.1016/J.Arcped.2017.01.008 |
0.37 |
|
| 2017 |
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, et al. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics. PMID 28067911 DOI: 10.1038/Ng.3765 |
0.449 |
|
| 2017 |
Ghedira N, Kraoua L, Lagarde A, Abdelaziz RB, Olschwang S, Desvignes JP, Abdelhak S, Monastiri K, Levy N, SandreGiovannoli AD, Mrad R. Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome Biology and Medicine. 9. DOI: 10.4172/0974-8369.1000414 |
0.456 |
|
| 2017 |
Cerino M, Gorokhova S, Laforêt P, Yaou RB, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze J, Boland A, Behin A, Stojkovic T, Bonne G, Lévy N, Bartoli M, et al. P.175 - Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.205 |
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Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, Mawuse GK, Doubaj Y, Lévy N, De Sandre-Giovannoli A. Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells. Cells. 5. PMID 27409638 DOI: 10.3390/Cells5030031 |
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Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, et al. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. Journal of Medical Genetics. PMID 27334370 DOI: 10.1136/Jmedgenet-2015-103695 |
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Galant D, Gaborit B, Desgrouas C, Abdesselam I, Bernard M, Levy N, Merono F, Coirault C, Roll P, Lagarde A, Bonello-Palot N, Bourgeois P, Dutour A, Badens C. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy. Cells. 5. PMID 27120622 DOI: 10.3390/Cells5020021 |
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Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M. Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton. Journal of Genetics. 95: 203-8. PMID 27019452 DOI: 10.1007/S12041-016-0619-0 |
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Blondel S, Egesipe AL, Picardi P, Jaskowiak AL, Notarnicola M, Ragot J, Tournois J, Le Corf A, Brinon B, Poydenot P, Georges P, Navarro C, Pitrez PR, Ferreira L, Bollot G, et al. Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation. Cell Death & Disease. 7: e2105. PMID 26890144 DOI: 10.1038/Cddis.2015.374 |
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Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Béroud G, Béroud C. UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. Human Mutation. 37: 439-46. PMID 26842889 DOI: 10.1002/Humu.22965 |
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Di Meglio C, Bonello-Palot N, Boulay C, Milh M, Ovaert C, Levy N, Chabrol B. Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation. Brain & Development. 38: 498-506. PMID 26686600 DOI: 10.1016/J.Braindev.2015.11.006 |
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Bevilacqua J, Mathieu Y, Krahn M, Bartoli M, Castiglioni C, Kleinsteuber K, Díaz J, Puppo F, Cerino M, Courrier S, Gorokhova S, Miranda N, Trangulao A, González-Hormazábal P, Avaria M, et al. Calpainopathy in Chile, first cases reported Neuromuscular Disorders. 26: S91. DOI: 10.1016/J.Nmd.2016.06.023 |
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Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M. Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290. PMID 27858744 DOI: 10.3233/Jnd-150109 |
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Cerino M, Gorokhova S, Béhin A, Urtizberea JA, Kergourlay V, Salvo E, Bernard R, Lévy N, Bartoli M, Krahn M. Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. Journal of Neuromuscular Diseases. 2: 131-136. PMID 27858732 DOI: 10.3233/Jnd-150074 |
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Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S. Dysferlinopathy in Iran: Clinical and genetic report. Journal of the Neurological Sciences. 359: 256-9. PMID 26671124 DOI: 10.1016/J.Jns.2015.11.009 |
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Kergourlay V, Blandin G, Blanck V, Lévy N, Bartoli M, Krahn M. Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides. Annals of Clinical and Translational Neurology. 2: 783-4. PMID 26273692 DOI: 10.1002/Acn3.216 |
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Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, et al. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Human Mutation. PMID 26123727 DOI: 10.1002/Humu.22828 |
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Gorokhova S, Biancalana V, Lévy N, Laporte J, Bartoli M, Krahn M. Clinical massively parallel sequencing for the diagnosis of myopathies. Revue Neurologique. 171: 558-71. PMID 26022190 DOI: 10.1016/J.Neurol.2015.02.019 |
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Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain : a Journal of Neurology. 138: 1505-17. PMID 25808372 DOI: 10.1093/Brain/Awv057 |
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Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, et al. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 25783436 DOI: 10.1136/Jnnp-2014-309663 |
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Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, et al. Truncated prelamin A expression in HGPS-like patients: a transcriptional study. European Journal of Human Genetics : Ejhg. 23: 1051-61. PMID 25649378 DOI: 10.1038/Ejhg.2014.239 |
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Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Bertaux K, Bernard R, Attarian S, Goto K, Nishino I, Hayashi Y, Magdinier F, Krahn M, Helmbacher F, et al. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation. 36: 443-53. PMID 25615407 DOI: 10.1002/Humu.22760 |
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Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, et al. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. Orphanet Journal of Rare Diseases. 10: 2. PMID 25603992 DOI: 10.1186/S13023-014-0218-1 |
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Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, et al. Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing. European Journal of Human Genetics : Ejhg. 23: 929-34. PMID 25351777 DOI: 10.1038/Ejhg.2014.223 |
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De Sandre-Giovannoli A, Levy N, Ben Yaou R, Leturcq F, Lattanzi G, Bonne G. An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases. Orphanet Journal of Rare Diseases. 10: I1. DOI: 10.1186/1750-1172-10-S2-I1 |
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Cerino M, Gorokhova S, Béhin A, Urtizberea JA, Lévy N, Bartoli M, Krahn M. Analyse évolutive d’une cohorte de patients atteints de myopathie héréditaire à inclusions : de l’approche « gène par gène » à l’approche « exome » Revue Neurologique. 171: A150-A151. DOI: 10.1016/J.Neurol.2015.01.331 |
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Xi J, Blandin G, Lu J, Luo S, Zhu W, Béroud C, Pécheux C, Labelle V, Lévy N, Urtizberea JA, Zhao C, Krahn M. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. Neurology India. 62: 635-9. PMID 25591676 DOI: 10.4103/0028-3886.149386 |
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Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Identification of splicing defects caused by mutations in the dysferlin gene. Human Mutation. 35: 1532-41. PMID 25312915 DOI: 10.1002/Humu.22710 |
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Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, et al. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology. 83: 733-42. PMID 25031281 DOI: 10.1212/Wnl.0000000000000708 |
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Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. Bmc Medical Genetics. 15: 51. PMID 24886349 DOI: 10.1186/1471-2350-15-51 |
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Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A. Muscle & Nerve. 50: 448-53. PMID 24715573 DOI: 10.1002/Mus.24263 |
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Hadj-Rabia S, Mashiah J, Roll P, Boyer A, Bourgeois P, Khau Van Kien P, Lévy N, De Sandre-Giovannoli A, Bodemer C, Navarro C. A new lamin a mutation associated with acrogeria syndrome. The Journal of Investigative Dermatology. 134: 2274-7. PMID 24687084 DOI: 10.1038/Jid.2014.158 |
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Cau P, Navarro C, Harhouri K, Roll P, Sigaudy S, Kaspi E, Perrin S, De Sandre-Giovannoli A, Lévy N. Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective. Seminars in Cell & Developmental Biology. 29: 125-47. PMID 24662892 DOI: 10.1016/J.Semcdb.2014.03.021 |
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Blondel S, Jaskowiak AL, Egesipe AL, Le Corf A, Navarro C, Cordette V, Martinat C, Laabi Y, Djabali K, de Sandre-Giovannoli A, Levy N, Peschanski M, Nissan X. Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome. Stem Cells Translational Medicine. 3: 510-9. PMID 24598781 DOI: 10.5966/Sctm.2013-0168 |
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Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, et al. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. European Journal of Human Genetics : Ejhg. 22: 1002-11. PMID 24169522 DOI: 10.1038/Ejhg.2013.258 |
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Nectoux J, Cid Rd, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Pakleza AN, Roudaut C, Criqui A, Orhant L, Peyroulan D, Yaou RB, Nelson I, Arné-Bes MC, Nitschke P, et al. G.P.281 Neuromuscular Disorders. 24: 901-902. DOI: 10.1016/J.Nmd.2014.06.357 |
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Puppo F, Sebbagh M, Helmbacher F, Levy N, Krahn M, Bartoli M. G.P.14 Neuromuscular Disorders. 24: 798. DOI: 10.1016/J.Nmd.2014.06.028 |
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Puppo F, Dionnet E, Gaildrat P, Castro C, Bernard R, Salort-Campana E, Shahram A, Nishino I, Krahn M, Helmbacher F, Levy N, Bartoli M. G.P.12 Neuromuscular Disorders. 24: 797-798. DOI: 10.1016/J.Nmd.2014.06.026 |
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Ozcan D, Derbent M, Seçkin D, Bikmaz YE, A?ildere M, De Sandre-Giovannoli A, Lévy N, Gürakan B. A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity? Annals of Dermatology. 25: 483-8. PMID 24371398 DOI: 10.5021/Ad.2013.25.4.483 |
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Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, et al. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. Plos Genetics. 9: e1003550. PMID 23785297 DOI: 10.1371/Journal.Pgen.1003550 |
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Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, et al. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Human Molecular Genetics. 22: 4206-14. PMID 23777630 DOI: 10.1093/Hmg/Ddt272 |
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Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. Annals of Human Genetics. 77: 336-43. PMID 23550889 DOI: 10.1111/Ahg.12017 |
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Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A. A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. Neuromuscular Disorders : Nmd. 23: 478-82. PMID 23541687 DOI: 10.1016/J.Nmd.2013.02.003 |
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Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. American Journal of Human Genetics. 92: 271-8. PMID 23332920 DOI: 10.1016/J.Ajhg.2012.12.007 |
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Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, et al. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathologica. 125: 439-57. PMID 23315026 DOI: 10.1007/S00401-012-1073-6 |
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Broucqsault N, Roche S, Morere J, Gaillard MC, Levy N, Nguyen K, Magdinier F. P.16.6 Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD Neuromuscular Disorders. 23: 824. DOI: 10.1016/J.Nmd.2013.06.643 |
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Bevilacqua JA, Castiglioni C, Capua GAD, Woudt L, Díaz J, Velásquez B, Hughes R, Campero M, González-Hormazábal P, Godoy-Herrera R, Levy N, Krahn M, Jara L. P.5.5 Clinical and genetic characterization of a cohort of 30 Chilean patients with dysferlinopathy Neuromuscular Disorders. 23: 765. DOI: 10.1016/J.Nmd.2013.06.457 |
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De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, Attarian S. Further heterogeneity in myopathy with tubular aggregates? Muscle & Nerve. 46: 984-5. PMID 23225398 DOI: 10.1002/Mus.23509 |
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Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. An inherited LMNA gene mutation in atypical Progeria syndrome. American Journal of Medical Genetics. Part A. 158: 2881-7. PMID 22991222 DOI: 10.1002/Ajmg.A.35557 |
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Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). Journal of the Peripheral Nervous System : Jpns. 17: 141-6. PMID 22734899 DOI: 10.1111/J.1529-8027.2012.00405.X |
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Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, Borel P, Suel L, Roche JA, Stockholm D, Bloch RJ, Levy N, Bashir R, Richard I. Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. Plos One. 7: e38036. PMID 22666441 DOI: 10.1371/Journal.Pone.0038036 |
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Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathologica. 124: 273-83. PMID 22526018 DOI: 10.1007/S00401-012-0982-8 |
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Poitelon Y, Kozlov S, Devaux J, Vallat JM, Jamon M, Roubertoux P, Rabarimeriarijaona S, Baudot C, Hamadouche T, Stewart CL, Levy N, Delague V. Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C). Neuromolecular Medicine. 14: 40-52. PMID 22331516 DOI: 10.1007/S12017-012-8168-Z |
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Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Human Mutation. 33: E2317-31. PMID 22213072 DOI: 10.1002/Humu.22015 |
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Kichine E, Rozé V, Di Cristofaro J, Taulier D, Navarro A, Streichemberger E, Decarpentrie F, Metzler-Guillemain C, Lévy N, Chiaroni J, Paquis-Flucklinger V, Fellmann F, Mitchell MJ. HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. Human Reproduction (Oxford, England). 27: 615-24. PMID 22158087 DOI: 10.1093/Humrep/Der421 |
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Bartoli M, Nègre P, Wein N, Bourgeois P, Pécheux C, Lévy N, Krahn M. Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes. Clinical Genetics. 81: 99-101. PMID 22150418 DOI: 10.1111/J.1399-0004.2011.01708.X |
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Barthélémy F, Kergourlay V, Lévy N, Krahn M, Bartoli M. T.P.27 Characterization of the modular domains of dysferlin for gene transfer Neuromuscular Disorders. 22: 860-861. DOI: 10.1016/J.Nmd.2012.06.192 |
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Nelson I, Allamand V, Yaou RB, Baulande S, Criqui A, Ibeas RDC, Richard I, Richard P, Voit T, Lévy N, Bonne G. D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders Neuromuscular Disorders. 22: 807-808. DOI: 10.1016/J.Nmd.2012.06.022 |
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Hamadouche T, Lagier-Tourenne C, Bernard R, Delague V, Benhassine T, Philip N, Lévy N. La neuropathie avec cataracte congénitale et dysmorphie faciale (CCFDN). Analyse moléculaire du gène CTDP1 chez des familles consanguines Revue Neurologique. 168. DOI: 10.1016/J.Neurol.2012.01.036 |
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Nguyen K, Walrafen P, Bernard R, Attarian S, Chaix C, Vovan C, Renard E, Dufrane N, Pouget J, Vannier A, Bensimon A, Lévy N. Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy. Annals of Neurology. 70: 627-33. PMID 22028222 DOI: 10.1002/Ana.22513 |
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Lopez-Mejia IC, Vautrot V, De Toledo M, Behm-Ansmant I, Bourgeois CF, Navarro CL, Osorio FG, Freije JM, Stévenin J, De Sandre-Giovannoli A, Lopez-Otin C, Lévy N, Branlant C, Tazi J. A conserved splicing mechanism of the LMNA gene controls premature aging. Human Molecular Genetics. 20: 4540-55. PMID 21875900 DOI: 10.1093/Hmg/Ddr385 |
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| 2011 |
Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. Neuromuscular Disorders : Nmd. 21: 543-50. PMID 21741241 DOI: 10.1016/J.Nmd.2011.04.013 |
0.486 |
|
| 2011 |
Dutour A, Roll P, Gaborit B, Courrier S, Alessi MC, Tregouet DA, Angelis F, Robaglia-Schlupp A, Lesavre N, Cau P, Lévy N, Badens C, Morange PE. High prevalence of laminopathies among patients with metabolic syndrome. Human Molecular Genetics. 20: 3779-86. PMID 21724554 DOI: 10.1093/Hmg/Ddr294 |
0.426 |
|
| 2011 |
Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Human Mutation. 32: E2211-25. PMID 21618344 DOI: 10.1002/Humu.21481 |
0.305 |
|
| 2011 |
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Translational research and therapeutic perspectives in dysferlinopathies. Molecular Medicine (Cambridge, Mass.). 17: 875-82. PMID 21556485 DOI: 10.2119/Molmed.2011.00084 |
0.711 |
|
| 2011 |
Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. American Journal of Human Genetics. 88: 650-6. PMID 21549337 DOI: 10.1016/J.Ajhg.2011.04.010 |
0.467 |
|
| 2011 |
Vernengo L, Oliveira J, Krahn M, Vieira E, Santos R, Carrasco L, Negrão L, Panuncio A, Leturcq F, Labelle V, Bronze-da-Rocha E, Mesa R, Pizzarossa C, Lévy N, Rodriguez MM. Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America. Neuromuscular Disorders : Nmd. 21: 328-37. PMID 21392994 DOI: 10.1016/J.Nmd.2011.02.003 |
0.461 |
|
| 2011 |
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscular Disorders : Nmd. 21: 254-62. PMID 21288719 DOI: 10.1016/J.Nmd.2010.12.011 |
0.661 |
|
| 2011 |
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. European Journal of Human Genetics : Ejhg. 19: 647-54. PMID 21267004 DOI: 10.1038/Ejhg.2010.256 |
0.491 |
|
| 2011 |
Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, et al. Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? Clinical Genetics. 80: 398-402. PMID 21204801 DOI: 10.1111/J.1399-0004.2010.01620.X |
0.677 |
|
| 2011 |
Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Human Mutation. 32: 277-81. PMID 21120949 DOI: 10.1002/Humu.21420 |
0.455 |
|
| 2011 |
Vernengo L, Oliveira J, Krahn M, Vieira E, Santos R, Carrasco L, Negrão L, Panuncio L, Leturcq F, Labelle V, Bronze-da-Rocha E, Mesa R, Pizzarossa C, Lévy N, Rodriguez M. P2.56 Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South America Neuromuscular Disorders. 21: 677. DOI: 10.1016/J.Nmd.2011.06.878 |
0.385 |
|
| 2010 |
Columbaro M, Mattioli E, Schena E, Capanni C, Cenni V, Levy N, Navarro CL, Del Coco R, Squarzoni S, Camozzi D, Hutchison CJ, Wehnert M, Lattanzi G. Prelamin A processing and functional effects in restrictive dermopathy. Cell Cycle (Georgetown, Tex.). 9: 4766-8. PMID 21127399 DOI: 10.4161/Cc.9.23.14210 |
0.362 |
|
| 2010 |
Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, et al. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Science Translational Medicine. 2: 50ra69. PMID 20861509 DOI: 10.1126/Scitranslmed.3000951 |
0.704 |
|
| 2010 |
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. European Journal of Human Genetics : Ejhg. 18: 1107-13. PMID 20531441 DOI: 10.1038/Ejhg.2010.82 |
0.678 |
|
| 2010 |
Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Lévy N, De Sandre-Giovannoli A. LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. Journal of Medical Genetics. 47: 361-70. PMID 20522425 DOI: 10.1136/Jmg.2009.071696 |
0.467 |
|
| 2010 |
Lévy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M. Therapeutic exon 'switching' for dysferlinopathies? European Journal of Human Genetics : Ejhg. 18: 969-70; author reply. PMID 20512160 DOI: 10.1038/Ejhg.2010.73 |
0.63 |
|
| 2010 |
Smigiel R, Jakubiak A, Esteves-Vieira V, Szela K, Halon A, Jurek T, Lévy N, De Sandre-Giovannoli A. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. American Journal of Medical Genetics. Part A. 152: 447-52. PMID 20101687 DOI: 10.1002/Ajmg.A.33221 |
0.459 |
|
| 2010 |
Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforêt P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Lévy N. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Human Mutation. 31: 136-42. PMID 19953532 DOI: 10.1002/Humu.21160 |
0.737 |
|
| 2010 |
Barat-Houari M, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C, Khau Van Kien P, Thorel D, Tuffery-Giraud S, Vasseur F, Attarian S, Pouget J, Girardet A, Lévy N, Claustres M. New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? European Journal of Human Genetics : Ejhg. 18: 533-8. PMID 19935833 DOI: 10.1038/Ejhg.2009.207 |
0.321 |
|
| 2010 |
Krahn M, Labelle V, Borges A, Bartoli M, Lévy N. Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. Genetic Testing and Molecular Biomarkers. 14: 153-4. PMID 19929428 DOI: 10.1089/Gtmb.2009.0131 |
0.71 |
|
| 2010 |
Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N. Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. Neuromuscular Disorders : Nmd. 20: 57-60. PMID 19854055 DOI: 10.1016/J.Nmd.2009.08.004 |
0.657 |
|
| 2010 |
Fontaine-Bisson B, Alessi MC, Saut N, Fumeron F, Marre M, Dutour A, Badens C, Levy N, Tichet J, Juhan-Vague I, Trégouët DA, Balkau B, Morange PE. Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study. Journal of Molecular Medicine (Berlin, Germany). 88: 193-201. PMID 19841875 DOI: 10.1007/S00109-009-0548-Y |
0.31 |
|
| 2010 |
Wein N, Avril A, Krahn M, Navarro C, Barthelemy F, Courrier S, Leturcq F, Garcia L, Bartoli M, Lévy N. O.17 Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping Neuromuscular Disorders. 20: 640. DOI: 10.1016/J.Nmd.2010.07.141 |
0.682 |
|
| 2010 |
Cossée M, Bartoli M, Allamand V, Guittard C, Delague V, Krahn M, Ledeuil C, Marey I, Nelson I, Richard P, Bourgeois P, Bonne G, Leturcq F, Voit T, Béroud C, et al. P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders Neuromuscular Disorders. 20: 604-604. DOI: 10.1016/J.Nmd.2010.07.030 |
0.728 |
|
| 2010 |
Nguyen K, Walrafen P, Attarian S, Vannier A, Chaix C, Vovan C, Renard E, Pouget J, Bernard R, Bensimon A, Lévy N. O.6 Beyond counting copies: direct visualization of copy number variations in a specific genomic context to explore facio-scapulo-humeral dystrophy (FSHD) Neuromuscular Disorders. 20: 599-599. DOI: 10.1016/J.Nmd.2010.07.015 |
0.332 |
|
| 2009 |
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a Journal of Neurology. 132: 2699-711. PMID 19651702 DOI: 10.1093/Brain/Awp198 |
0.502 |
|
| 2009 |
Gaudy-Marqueste C, Boyer A, Navarro C, Rouzier C, Harley JR, Weiller PJ, Grob JJ, Levy N, De Sandre-Giovannoli A. LMNA, ZMPSTE24, and LBR are not mutated in scleroderma. Genetic Testing and Molecular Biomarkers. 13: 635-9. PMID 19645629 DOI: 10.1089/Gtmb.2009.0021 |
0.488 |
|
| 2009 |
Krahn M, Borges A, Navarro C, Schuit R, Stojkovic T, Torrente Y, Wein N, Pécheux C, Lévy N. Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. Genetic Testing and Molecular Biomarkers. 13: 439-42. PMID 19594366 DOI: 10.1089/Gtmb.2009.0010 |
0.419 |
|
| 2009 |
Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, et al. VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell. 137: 235-46. PMID 19379691 DOI: 10.1016/J.Cell.2009.01.054 |
0.335 |
|
| 2009 |
Agouti I, Bennani M, Levy N, Giordano P, Badens C. The rare codon 24 (T>A) (beta+) mutation in association with the common codon 39 (C> T) (beta0) mutation causes transfusion-dependent beta-thalassemia in a Moroccan patient. Hemoglobin. 33: 150-4. PMID 19373592 DOI: 10.1080/03630260902861998 |
0.313 |
|
| 2009 |
Fabre A, Roquelaure B, Lacoste C, André N, Sarles J, Breton A, Martinez-Vinson C, Cezard JP, Colomb V, Goulet O, Levy N, Badens C. Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea. Journal of Pediatric Gastroenterology and Nutrition. 48: 501-3. PMID 19322062 DOI: 10.1097/Mpg.0B013E3181846Aab |
0.426 |
|
| 2009 |
Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A. Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. Stroke; a Journal of Cerebral Circulation. 40: e11-4. PMID 19095983 DOI: 10.1161/Strokeaha.108.531780 |
0.462 |
|
| 2009 |
Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. Clinical Genetics. 75: 301-3. PMID 19018795 DOI: 10.1111/J.1399-0004.2008.01102.X |
0.302 |
|
| 2009 |
Agouti I, Badens C, Abouyoub A, Levy N, Bennani M. Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. Genetic Testing. 12: 563-8. PMID 18976160 DOI: 10.1089/Gte.2008.0058 |
0.369 |
|
| 2009 |
Navarro CL, Poitelon Y, Lévy N. [A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects]. Medecine Sciences : M/S. 24: 833-40. PMID 18950579 DOI: 10.1051/Medsci/20082410833 |
0.37 |
|
| 2009 |
Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Human Mutation. 30: E345-75. PMID 18853459 DOI: 10.1002/Humu.20910 |
0.493 |
|
| 2009 |
Krahn M, Wein N, Borges A, Bourgeois P, Labelle V, Negre P, Pecheux C, Bartoli M, Lévy N. G.P.6.06 Systematic screening for genomic deletions and duplications in the dysferlin gene using multiplex ligation-dependant probe amplification and CGH microarrays Neuromuscular Disorders. 19: 585-586. DOI: 10.1016/J.Nmd.2009.06.135 |
0.647 |
|
| 2008 |
Khadilkar SV, Singh RK, Agarwal P, Krahn M, Levy N. Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. Neurology India. 56: 388-90. PMID 18974570 DOI: 10.4103/0028-3886.43459 |
0.4 |
|
| 2008 |
Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA. Fine-mapping the gene for X-linked myopathy with excessive autophagy. Neurology. 71: 951-3. PMID 18794500 DOI: 10.1212/01.Wnl.0000325991.01899.35 |
0.409 |
|
| 2008 |
Lacoste C, Bonello-Palot N, Gonnet K, Merono F, Levy N, Thuret I, Badens C. First case of gamma-thalassemia in association with a betaS allele: a pitfall in the neonatal screening for sickle cell disease. Haematologica. 93: 1754-5. PMID 18728021 DOI: 10.3324/Haematol.13262 |
0.347 |
|
| 2008 |
Morin G, Desenclos C, Jeanpetit C, Lévy N, Deramond H, Mathieu M. Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype? European Journal of Medical Genetics. 51: 436-43. PMID 18684681 DOI: 10.1016/J.Ejmg.2008.05.004 |
0.324 |
|
| 2008 |
Béhin A, Dubourg O, Laforêt P, Pêcheux C, Bernard R, Lévy N, Eymard B. [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. Revue Neurologique. 164: 434-43. PMID 18555875 DOI: 10.1016/J.Neurol.2008.02.040 |
0.31 |
|
| 2008 |
Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, Sandre-Giovannoli AD, Grid D, Lévy N, Delague V. Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. Annals of Human Genetics. 72: 590-597. PMID 18549403 DOI: 10.1111/J.1469-1809.2008.00456.X |
0.677 |
|
| 2008 |
Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, Sandre-Giovannoli AD, Lévy N. HGPS and related premature aging disorders: From genomic identification to the first therapeutic approaches Mechanisms of Ageing and Development. 129: 449-459. PMID 18513784 DOI: 10.1016/J.Mad.2008.04.003 |
0.32 |
|
| 2008 |
Krahn M, Lévy N, Danièle N, Richard I, Bartoli M. Novel therapeutic strategies for muscular dystrophies | Nouvelles stratégies thérapeutiques des dystrophies musculaires Revue Du Rhumatisme (Edition Francaise). 75: 181-186. DOI: 10.1016/J.Rhum.2007.12.001 |
0.641 |
|
| 2008 |
Campana-Salort E, Krahn M, Bartoli M, Richard I, Pouget J, Levy N. Limb girdle muscular dystrophies: Diagnosis strategy, molecular bases | Dystrophies musculaires des ceintures : stratégie diagnostique, bases moléculaires Revue Du Rhumatisme (Edition Francaise). 75: 142-150. DOI: 10.1016/J.Rhum.2007.10.617 |
0.639 |
|
| 2008 |
Krahn M, Wein N, Lostal W, Bourg-Alibert N, Nguyen K, Courrier S, Vial C, Labelle V, Petris DD, Borges A, Mattei M, Roudaut C, Miyake K, McNeil P, Cau P, et al. G.O.5 Partial functionality of a Mini-dysferlin molecule identified in a patient affected with moderately severe primary dysferlinopathy Neuromuscular Disorders. 18: 781. DOI: 10.1016/J.Nmd.2008.06.198 |
0.633 |
|
| 2007 |
Agouti I, Bennani M, Nezri M, Levy N, Badens C. Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene. European Journal of Haematology. 80: 346-50. PMID 18081706 DOI: 10.1111/J.1600-0609.2007.01017.X |
0.34 |
|
| 2007 |
Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, Lévy N. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. Clinical Genetics. 72: 582-92. PMID 17979987 DOI: 10.1111/J.1399-0004.2007.00906.X |
0.475 |
|
| 2007 |
Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Archives of Neurology. 64: 1176-82. PMID 17698709 DOI: 10.1001/Archneur.64.8.1176 |
0.481 |
|
| 2007 |
Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. An association of Hutchinson-Gilford progeria and malignancy. American Journal of Medical Genetics. Part A. 1821-6. PMID 17618517 DOI: 10.1002/Ajmg.A.31803 |
0.4 |
|
| 2007 |
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. American Journal of Human Genetics. 81: 1-16. PMID 17564959 DOI: 10.1086/518428 |
0.668 |
|
| 2007 |
Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM. Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell. 6: 139-53. PMID 17274801 DOI: 10.1111/J.1474-9726.2007.00270.X |
0.395 |
|
| 2007 |
De Sandre-Giovannoli A, Lévy N. Altered splicing in prelamin A-associated premature aging phenotypes. Progress in Molecular and Subcellular Biology. 44: 199-232. PMID 17076270 DOI: 10.1007/978-3-540-34449-0_9 |
0.436 |
|
| 2007 |
Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Medicine. 8: 87-106. PMID 16775369 DOI: 10.1385/Nmm:8:1-2:87 |
0.66 |
|
| 2007 |
Krahn M, Hanisch F, Goicoechea M, Groen E, Pécheux C, Garcia-Bragado F, Layzer R, Leturcq F, Strober J, Urtizberea J, Sáenz A, Bushby K, Lévy N, Lopez de Munain A. G.P.4.15 CAPN3 mutations in patients with idiopathic eosinophilic myositis: A predystrophic stage of LGMD2A? Neuromuscular Disorders. 17: 791-792. DOI: 10.1016/J.Nmd.2007.06.107 |
0.376 |
|
| 2007 |
Krahn M, Wein N, Nguyen K, Vial C, Courrier S, Lostal W, Bartoli M, Labelle V, Leturcq F, Cau P, Richard I, Levy N. G.P.4.10 Functional evaluation of a putative mini-dysferlin identified in a patient with moderate Miyoshi myopathy phenotype Neuromuscular Disorders. 17: 790. DOI: 10.1016/J.Nmd.2007.06.102 |
0.659 |
|
| 2007 |
Krahn M, Bernard R, Nguyen K, Labelle V, Bassez G, Figarella-Branger D, Pouget J, Di Salvo E, Hammouda E, Béroud C, Eymard B, Urtizberea J, Leturcq F, Lévy N. G.P.4.01 Mutational spectrum of the DYSF gene based on a large cohort of dysferlin deficient patients Neuromuscular Disorders. 17: 787. DOI: 10.1016/J.Nmd.2007.06.093 |
0.438 |
|
| 2007 |
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Levy N. G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H Neuromuscular Disorders. 17: 767. DOI: 10.1016/J.Nmd.2007.06.024 |
0.64 |
|
| 2006 |
Navarro CL, Cau P, Lévy N. Molecular bases of progeroid syndromes. Human Molecular Genetics. R151-61. PMID 16987878 DOI: 10.1093/Hmg/Ddl214 |
0.371 |
|
| 2006 |
Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. American Journal of Medical Genetics. Part A. 140: 2212-5. PMID 16955409 DOI: 10.1002/Ajmg.A.31400 |
0.385 |
|
| 2006 |
Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clinical Genetics. 70: 57-62. PMID 16813605 DOI: 10.1111/J.1399-0004.2006.00641.X |
0.446 |
|
| 2006 |
Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N. Screening of the CAPN3 gene in patients with possible LGMD2A. Clinical Genetics. 69: 444-9. PMID 16650086 DOI: 10.1111/J.1399-0004.2006.00603.X |
0.308 |
|
| 2006 |
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, et al. CAPN3 mutations in patients with idiopathic eosinophilic myositis. Annals of Neurology. 59: 905-11. PMID 16607617 DOI: 10.1002/Ana.20833 |
0.424 |
|
| 2006 |
Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, et al. SRPX2 mutations in disorders of language cortex and cognition. Human Molecular Genetics. 15: 1195-207. PMID 16497722 DOI: 10.1093/Hmg/Ddl035 |
0.358 |
|
| 2006 |
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. Journal of Medical Genetics. 43: 401-5. PMID 16443854 DOI: 10.1136/Jmg.2005.040352 |
0.415 |
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| 2006 |
Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N. Molecular Genetics of Autosomal-Recessive Axonal Charcot-Marie-Tooth Neuropathies Neuromolecular Medicine. 8: 87-106. DOI: 10.1385/NMM:8:1:87 |
0.561 |
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| 2006 |
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura J, Romero N, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea J, Lévy N. P.P.6 05 CAPN3 mutations in patients with idiopathic eosinophilic myositis Neuromuscular Disorders. 16: 695. DOI: 10.1016/J.Nmd.2006.05.169 |
0.369 |
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| 2006 |
Poitelon Y, Hamadouche T, Sandre-Giovannoli AD, Kozlov S, Serradj N, Tazir M, Chaouch M, Grid D, Stewart C, Jamon M, Delague V, Lévy N. G.P.4.02 Pathophysiological mechanisms of lamin A/C associated Charcot-Marie-Tooth disease (CMT2B1/ARCMT2) Neuromuscular Disorders. 16: 675. DOI: 10.1016/J.Nmd.2006.05.110 |
0.599 |
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| 2005 |
Levy N, López-Otín C, Hennekam RC. Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy. Archives of Dermatology. 141: 1473-4; author reply. PMID 16301408 DOI: 10.1001/Archderm.141.11.1473-B |
0.392 |
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| 2005 |
Giuliano F, Badens C, Richelme C, Levy N, Lambert JC. [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie. 12: 1372-5. PMID 16125058 DOI: 10.1016/J.Arcped.2005.03.053 |
0.403 |
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| 2005 |
Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Human Mutation. 26: 165. PMID 16010686 DOI: 10.1002/Humu.9355 |
0.47 |
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| 2005 |
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, et al. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Human Molecular Genetics. 14: 1503-13. PMID 15843403 DOI: 10.1093/Hmg/Ddi159 |
0.489 |
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| 2005 |
Kozlov S, Mounkes L, Cutler D, Sullivan T, Hernandez L, Levy N, Rottman J, Stewart CL. Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy. Novartis Foundation Symposium. 264: 246-58; discussion 2. PMID 15773758 |
0.366 |
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| 2005 |
De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11 Journal of Medical Genetics. 42: 260-265. PMID 15744041 DOI: 10.1136/Jmg.2004.024364 |
0.646 |
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| 2005 |
Sevenants L, Wouters C, Sandre-Giovannoli AD, Devlieger H, Devriendt K, Oord JJvd, Marien K, Lévy N, Morren M. Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant European Journal of Pediatrics. 164: 283-286. PMID 15726408 DOI: 10.1007/S00431-005-1635-X |
0.324 |
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| 2005 |
Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, et al. Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. Journal of Medical Genetics. 41: 814-25. PMID 15520406 DOI: 10.1136/Jmg.2004.022111 |
0.342 |
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| 2005 |
Meaburn KJ, Levy N, Toniolo D, Bridger JM. Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations Biochemical Society Transactions. 33: 1438-1440. DOI: 10.1042/Bst0331438 |
0.398 |
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| 2005 |
Kozlov S, Mounkes L, Cutler D, Sullivan T, Hernandez L, Levy N, Rottman J, Stewart CL. Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy. Novartis Foundation Symposium. 264: 246-263. DOI: 10.1002/0470093765.Ch17 |
0.471 |
|
| 2004 |
Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N. Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion. Annales De Genetique. 47: 235-40. PMID 15337468 DOI: 10.1016/J.Anngen.2004.04.002 |
0.417 |
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| 2004 |
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Human Molecular Genetics. 13: 2493-503. PMID 15317753 DOI: 10.1093/Hmg/Ddh265 |
0.429 |
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| 2003 |
Vigouroux C, Caux F, Capeau J, Christin-Maitre S, Cohen A, Bonne G, Levy N, Oshima J, Garg A, Martin GM, Kennedy BK. LMNA mutations in atypical Werner's syndrome [5] (multiple letters) The Lancet. 362: 1585-1586. PMID 14615128 DOI: 10.1016/S0140-6736(03)14760-5 |
0.393 |
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| 2003 |
Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier JF. Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene Neurology. 61: 562-564. PMID 12939441 DOI: 10.1212/01.Wnl.0000076486.57572.5C |
0.464 |
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| 2003 |
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, et al. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Human Mutation. 22: 129-35. PMID 12872253 DOI: 10.1002/Humu.10240 |
0.494 |
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| 2003 |
De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. Journal of Medical Genetics. 40: e87. PMID 12843336 DOI: 10.1136/Jmg.40.7.E87 |
0.672 |
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| 2003 |
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. Lamin a truncation in Hutchinson-Gilford progeria. Science (New York, N.Y.). 300: 2055. PMID 12702809 DOI: 10.1126/Science.1084125 |
0.303 |
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| 2003 |
Maduro MR, Casella R, Kim E, Lévy N, Niederberger C, Lipshultz LI, Lamb DJ. Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. Molecular Human Reproduction. 9: 61-8. PMID 12569174 DOI: 10.1093/Molehr/Gag013 |
0.322 |
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| 2002 |
Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N. Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders. European Journal of Human Genetics : Ejhg. 10: 297-302. PMID 12082504 DOI: 10.1038/Sj.Ejhg.5200804 |
0.36 |
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| 2002 |
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. American Journal of Human Genetics. 70: 726-36. PMID 11799477 DOI: 10.1046/J.1529-8027.2002.02026_2.X |
0.443 |
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| 2001 |
Latour P, Boutrand L, Levy N, Bernard R, Boyer A, Claustrat F, Chazot G, Boucherat M, Vandenberghe A. Polymorphic Short Tandem Repeats for Diagnosis of the Charcot-Marie-Tooth 1A Duplication Clinical Chemistry. 47: 829-837. DOI: 10.1093/Clinchem/47.5.829 |
0.324 |
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| 2000 |
Saut N, Terriou P, Navarro A, Lévy N, Mitchell MJ. The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Molecular Human Reproduction. 6: 789-93. PMID 10956550 DOI: 10.1093/Molehr/6.9.789 |
0.336 |
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| 2000 |
Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. European Journal of Human Genetics : Ejhg. 8: 125-9. PMID 10757644 DOI: 10.1038/Sj.Ejhg.5200432 |
0.315 |
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| 2000 |
Bernard R, Labelle V, Negre P, Tardieu S, Azulay J, Malzac P, Mattei J, Leguern E, Philip N, Levy N. PRENATAL DETECTION OF A 17P11.2 DUPLICATION RESULTING FROM A RARE RECOMBINATION EVENT AND NOVEL PCR‐BASED STRATEGY FOR MOLECULAR IDENTIFICATION OF CHARCOT‐MARIE‐TOOTH DISEASE TYPE 1A Journal of the Peripheral Nervous System. 5: 240-240. DOI: 10.1038/Sj.Ejhg.5200433 |
0.331 |
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| 1999 |
Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM. Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle & Nerve. 22: 1442-7. PMID 10487913 DOI: 10.1002/(Sici)1097-4598(199910)22:10<1442::Aid-Mus16>3.0.Co;2-6 |
0.335 |
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| 1999 |
Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, Trundley A, Burgoyne P, Saut N, Durand C, Levy N, Terriou P, Hargreave T, Cooke H, Mitchell M, Rappold GA, et al. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. Journal of Medical Genetics. 36: 670-677. DOI: 10.1136/Jmg.36.9.670 |
0.371 |
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| 1998 |
Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Human Molecular Genetics. 7: 141-148. PMID 9384615 DOI: 10.1093/Hmg/7.1.141 |
0.318 |
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| 1997 |
Latour P, Lévy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A. Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population Neurogenetics. 1: 117-123. PMID 10732813 DOI: 10.1007/S100480050017 |
0.454 |
|
| 1993 |
Landels EC, Green PM, Ellis IH, Fensom AH, Kaback MM, Lim-Steele J, Zeiger K, Levy N, Bobrow M. Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles Journal of Medical Genetics. 30: 479-481. PMID 8326491 DOI: 10.1136/jmg.30.6.479 |
0.333 |
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