Nicolas Lévy - Publications

Affiliations: 
2009- Aix Marseille University 

118 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  1
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  1
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  1
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  1
2019 Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, et al. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. PMID 31155932 DOI: 10.1161/CIRCULATIONAHA.118.039410  1
2019 Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, et al. Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine. 12: e002500. PMID 31112424 DOI: 10.1161/CIRCGEN.119.002500  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  0.4
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  1
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  1
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  1
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  1
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  1
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  1
2017 Kaspi E, Frankel D, Guinde J, Perrin S, Laroumagne S, Robaglia-Schlupp A, Ostacolo K, Harhouri K, Tazi-Mezalek R, Micallef J, Dutau H, Tomasini P, De Sandre-Giovannoli A, Lévy N, Cau P, et al. Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status. Plos One. 12: e0183136. PMID 28806747 DOI: 10.1371/journal.pone.0183136  1
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  1
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  1
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  1
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  1
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  1
2016 Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, et al. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Bmc Medical Genetics. 17: 66. PMID 27634379 DOI: 10.1186/s12881-016-0328-9  1
2016 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  1
2016 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  1
2016 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. DOI: 10.1002/humu.22965  1
2015 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  1
2015 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  1
2015 Yaou RB, De Sandre-Giovannoli A, Leturcq F, Lévy N, Bonne G. [First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope]. Medecine Sciences : M/S. 31: 39-40. PMID 26546932 DOI: 10.1051/medsci/201531s311  1
2015 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  1
2015 Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Kimura E, Goto J, Yonemoto N, Aoki M, Nishino I, et al. Respiratory and cardiac function in Japanese patients with dysferlinopathy. Muscle & Nerve. PMID 26088049 DOI: 10.1002/mus.24741  1
2015 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  1
2015 Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA. Toward an objective measure of functional disability in dysferlinopathy. Muscle & Nerve. PMID 25900324 DOI: 10.1002/mus.24685  1
2015 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  1
2015 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  1
2015 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  1
2015 Sibertin-Blanc C, Mancini J, Fabre A, Lagarde A, Del Grande J, Levy N, Seitz JF, Olschwang S, Dahan L. Vascular Endothelial Growth Factor A c.*237C>T polymorphism is associated with bevacizumab efficacy and related hypertension in metastatic colorectal cancer. Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association For the Study of the Liver. 47: 331-7. PMID 25617075 DOI: 10.1016/j.dld.2014.12.013  0.4
2015 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  1
2015 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  1
2015 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  1
2015 Lévy N, Roubertoux PL. Organism models: Choosing the right model Neuromethods. 100: 3-27. DOI: 10.1007/978-1-4939-2250-5_1  1
2014 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  1
2014 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  1
2014 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  1
2014 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  1
2014 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  1
2014 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  1
2014 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. PMID 24685615 DOI: 10.1016/j.semcdb.2014.03.022  1
2014 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  1
2014 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  1
2014 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  1
2014 Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics : Ejhg. 22: 363-8. PMID 23756445 DOI: 10.1038/ejhg.2013.135  1
2013 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  1
2013 Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. American Journal of Human Genetics. 93: 579-86. PMID 24011989 DOI: 10.1016/j.ajhg.2013.07.023  1
2013 Salort-Campana E, Nguyen K, Lévy N, Pouget J, Attarian S. [Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012]. Revue Neurologique. 169: 573-82. PMID 24011979 DOI: 10.1016/j.neurol.2013.07.001  1
2013 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  1
2013 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  1
2013 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  0.32
2013 Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 20: 968-74. PMID 23530687 DOI: 10.1111/ene.12129  1
2013 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  1
2013 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  1
2012 Perrin S, Cremer J, Faucher O, Reynes J, Dellamonica P, Micallef J, Solas C, Lacarelle B, Stretti C, Kaspi E, Robaglia-Schlupp A, Nicolino-Brunet C, Tamalet CN, Tamalet C, Lévy N, et al. HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study. Plos One. 7: e53035. PMID 23285253 DOI: 10.1371/journal.pone.0053035  1
2012 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  1
2012 Nissan X, Blondel S, Navarro C, Maury Y, Denis C, Girard M, Martinat C, De Sandre-Giovannoli A, Levy N, Peschanski M. Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA. Cell Reports. 2: 1-9. PMID 22840390 DOI: 10.1016/j.celrep.2012.05.015  1
2012 Perrin S, Cremer J, Roll P, Faucher O, Ménard A, Reynes J, Dellamonica P, Naqvi A, Micallef J, Jouve E, Tamalet C, Solas C, Pissier C, Arnoux I, Nicolino-Brunet C, et al. HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study. Plos One. 7: e41129. PMID 22829920 DOI: 10.1371/journal.pone.0041129  1
2012 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  1
2012 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  1
2012 Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome American Journal of Human Genetics. 90: 689-692. PMID 22444670 DOI: 10.1016/j.ajhg.2012.02.009  1
2012 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  1
2012 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  1
2011 Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S, Di Santo J, St Guily JL, Muntoni F, Kim J, Philippi S, Spuler S, Levy N, et al. Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. Skeletal Muscle. 1: 34. PMID 22040608 DOI: 10.1186/2044-5040-1-34  0.6
2011 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  1
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  1
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  1
2011 Mégarbané A, Chouery E, Mignon-Ravix C, El Sabbagh S, Corbani S, Ghoch JA, Jalkh N, Mehawej C, Lévy N, Villard L. Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome. American Journal of Medical Genetics. Part A. 155: 1147-51. PMID 21465653 DOI: 10.1002/ajmg.a.33938  1
2011 Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, Rooryck C, Prouheze C, Vigouroux A, Chauveau D, Calvas P, Chassaing N. A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. European Journal of Medical Genetics. 54: 310-3. PMID 21276880 DOI: 10.1016/j.ejmg.2011.01.005  0.36
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2010 Levy N. The issues raised by the public-private relations in R & D for rare diseases: A perspective of an academic Presse Medicale. 39: 8-10. DOI: 10.1016/j.lpm.2010.02.004  1
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  1
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  1
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  1
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  1
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  1
2009 Bevilacqua JA, Krahn M, Pedraza L, Gejman R, Gonzalez S, Lévy N. Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. Genetic Testing and Molecular Biomarkers. 13: 105-8. PMID 19309282 DOI: 10.1089/gtmb.2008.0091  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2005 Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N. Tetra-amelia and lung aplasia syndrome: Report of a new family and exclusion of candidate genes [4] Clinical Genetics. 68: 558-560. PMID 16283889 DOI: 10.1111/j.1399-0004.2005.00531.x  1
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  1
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  1
2005 Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. Journal of Medical Genetics. 42: 253-9. PMID 15744040 DOI: 10.1136/jmg.2004.021899  1
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  1
2002 Robaglia-Schlupp A, Pizant J, Norreel JC, Passage E, Sabéran-Djoneidi D, Ansaldi JL, Vinay L, Figarella-Branger D, Lévy N, Clarac F, Cau P, Pellissier JF, Fontés M. PMP22 overexpression causes dysmyelination in mice. Brain : a Journal of Neurology. 125: 2213-21. PMID 12244079 DOI: 10.1093/brain/awf230  1
2001 Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. Journal of Medical Genetics. 38: 435-42. PMID 11432961 DOI: 10.1136/jmg.38.7.435  1
1999 Lévy N, Bernard-Bronsard R, Lossi AM, Colleaux L, Cardoso C, Villard L, Fontés M. A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis. Human Mutation. 14: 448. PMID 10533076 DOI: 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q  1
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  1
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