| Year |
Citation |
Score |
| 2020 |
Jaber D, Gitiaux C, Blesson S, Marguet F, Buard D, Varela Salgado M, Kaminska A, Saada J, Fallet-Bianco C, Martinovic J, Laquerriere A, Melki J. De novo mutations of are responsible for arthrogryposis broadening the -related phenotypes. Journal of Medical Genetics. PMID 32928894 DOI: 10.1136/Jmedgenet-2020-107166 |
0.403 |
|
| 2019 |
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, ... ... Melki J, et al. Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Hepatology (Baltimore, Md.). PMID 30912852 DOI: 10.1002/Hep.30627 |
0.303 |
|
| 2019 |
Vivanti A, Ozanne A, Grondin C, Saliou G, Quevarec L, Maurey H, Aubourg P, Benachi A, Gut M, Gut I, Martinovic J, Senat M, Tawk M, Melki J. Mutation ephb4 responsable de malformation anévrysmale de la veine de Galien Journal of Neuroradiology. 46: 72-73. DOI: 10.1016/J.Neurad.2019.01.069 |
0.399 |
|
| 2018 |
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, et al. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. Jama Neurology. PMID 29482223 DOI: 10.1001/Jamaneurol.2017.5121 |
0.512 |
|
| 2018 |
Vivanti A, Ozanne A, Grondin C, Saliou G, Quevarec L, Maurey H, Aubourg P, Benachi A, Gut M, Gut I, Martinovic J, Sénat MV, Tawk M, Melki J. Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. Brain : a Journal of Neurology. PMID 29444212 DOI: 10.1093/Brain/Awy020 |
0.395 |
|
| 2017 |
Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, ... Melki J, et al. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. European Journal of Human Genetics : Ejhg. PMID 29255276 DOI: 10.1038/S41431-017-0007-0 |
0.368 |
|
| 2017 |
Abiusi E, D'Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, Bessereau JL, Melki J. Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis. Human Molecular Genetics. 26: 3989-3994. PMID 29016857 DOI: 10.1093/Hmg/Ddx288 |
0.444 |
|
| 2017 |
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, ... ... Melki J, et al. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. American Journal of Human Genetics. PMID 28318499 DOI: 10.1016/J.Ajhg.2017.02.006 |
0.404 |
|
| 2017 |
Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Rivière JB, Heron D, Donadieu J, Bellanné-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, ... ... Melki J, et al. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. American Journal of Medical Genetics. Part A. 173: 62-71. PMID 27615324 DOI: 10.1002/Ajmg.A.37969 |
0.392 |
|
| 2016 |
Topaloglu H, Melki J. Spinal muscular atrophy associated with progressive myoclonus epilepsy. Epileptic Disorders : International Epilepsy Journal With Videotape. 18: 128-134. PMID 27647482 DOI: 10.1684/Epd.2016.0858 |
0.464 |
|
| 2016 |
Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, ... ... Melki J, et al. Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. Jama Neurology. PMID 27244217 DOI: 10.1001/Jamaneurol.2016.1114 |
0.308 |
|
| 2015 |
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, ... ... Melki J, et al. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. European Journal of Human Genetics : Ejhg. PMID 26626311 DOI: 10.1038/Ejhg.2015.250 |
0.377 |
|
| 2015 |
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, ... ... Melki J, et al. Fetal phenotypes in otopalatodigital spectrum disorders. Clinical Genetics. PMID 26404489 DOI: 10.1111/Cge.12679 |
0.394 |
|
| 2015 |
Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J. Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. American Journal of Human Genetics. 97: 616-20. PMID 26365340 DOI: 10.1016/J.Ajhg.2015.08.010 |
0.429 |
|
| 2015 |
Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, ... ... Melki J, et al. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. American Journal of Human Genetics. 96: 955-61. PMID 26004201 DOI: 10.1016/J.Ajhg.2015.04.014 |
0.405 |
|
| 2015 |
Haliloglu G, Maluenda J, Sayinbatur B, Aumont C, Temucin C, Tavil B, Cetin M, Oguz KK, Gut I, Picard V, Melki J, Topaloglu H. Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. Neurology. 84: 1220-4. PMID 25716358 DOI: 10.1212/Wnl.0000000000001391 |
0.348 |
|
| 2015 |
Ravenscroft G, Nolent F, Rajagopalan S, Meireles A, Paavola K, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong R, Allcock R, ... ... Melki J, et al. Autosomal recessive mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.013 |
0.31 |
|
| 2014 |
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Melki J, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199 |
0.372 |
|
| 2014 |
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, ... ... Melki J, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Human Molecular Genetics. 23: 2279-89. PMID 24319099 DOI: 10.1093/Hmg/Ddt618 |
0.427 |
|
| 2014 |
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, ... ... Melki J, et al. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 23: 2220-31. PMID 24256812 DOI: 10.1093/Hmg/Ddt587 |
0.329 |
|
| 2014 |
Sayınbatur B, Maluenda J, Temuçin C, Tavil B, Çetin M, Karlı-Oguz K, Gut I, Haliloglu G, Melki J, Topaloglu H. G.O.21 Neuromuscular Disorders. 24: 921. DOI: 10.1016/J.Nmd.2014.06.420 |
0.395 |
|
| 2013 |
Nocturne G, Boudaoud S, Miceli-Richard C, Viengchareun S, Lazure T, Nititham J, Taylor KE, Ma A, Busato F, Melki J, Lessard CJ, Sivils KL, Dubost JJ, Hachulla E, Gottenberg JE, et al. Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome. Blood. 122: 4068-76. PMID 24159176 DOI: 10.1182/Blood-2013-05-503383 |
0.322 |
|
| 2013 |
Tiziano FD, Melki J, Simard LR. Solving the puzzle of spinal muscular atrophy: what are the missing pieces? American Journal of Medical Genetics. Part A. 161: 2836-45. PMID 24124019 DOI: 10.1002/Ajmg.A.36251 |
0.534 |
|
| 2013 |
Viollet L, Melki J. Spinal muscular atrophies. Handbook of Clinical Neurology. 113: 1395-411. PMID 23622363 DOI: 10.1016/B978-0-444-59565-2.00010-1 |
0.502 |
|
| 2013 |
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, ... ... Melki J, et al. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Human Molecular Genetics. 22: 1483-92. PMID 23236030 DOI: 10.1093/Hmg/Dds514 |
0.474 |
|
| 2013 |
Fassier C, Tarrade A, Peris L, Courageot S, Mailly P, Dalard C, Delga S, Roblot N, Lefèvre J, Job D, Hazan J, Curmi PA, Melki J. Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice. Disease Models & Mechanisms. 6: 72-83. PMID 22773755 DOI: 10.1242/Dmm.008946 |
0.377 |
|
| 2012 |
Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, ... ... Melki J, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. American Journal of Human Genetics. 91: 5-14. PMID 22703880 DOI: 10.1016/J.Ajhg.2012.05.001 |
0.525 |
|
| 2012 |
Piccoli M, Franzin C, Bertin E, Urbani L, Blaauw B, Repele A, Taschin E, Cenedese A, Zanon GF, André-Schmutz I, Rosato A, Melki J, Cavazzana-Calvo M, Pozzobon M, De Coppi P. Amniotic fluid stem cells restore the muscle cell niche in a HSA-Cre, Smn(F7/F7) mouse model. Stem Cells (Dayton, Ohio). 30: 1675-84. PMID 22644669 DOI: 10.1002/Stem.1134 |
0.339 |
|
| 2012 |
Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, ... ... Melki J, et al. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. Plos One. 7: e35333. PMID 22509407 DOI: 10.1371/Journal.Pone.0035333 |
0.379 |
|
| 2012 |
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Melki J, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/Humu.22067 |
0.418 |
|
| 2012 |
Bogaert E, Goris A, Van Damme P, Geelen V, Lemmens R, van Es MA, van den Berg LH, Sleegers K, Verpoorten N, Timmerman V, De Jonghe P, Van Broeckhoven C, Traynor BJ, Landers JE, Brown RH, ... ... Melki J, et al. Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 418-20. PMID 20409611 DOI: 10.1016/J.Neurobiolaging.2010.03.007 |
0.373 |
|
| 2010 |
Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, ... ... Melki J, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. The Lancet. Neurology. 9: 986-94. PMID 20801717 DOI: 10.1016/S1474-4422(10)70197-6 |
0.314 |
|
| 2009 |
Vitte J, Attali R, Warwar N, Gurt I, Melki J. Spinal muscular atrophy. Advances in Experimental Medicine and Biology. 652: 237-46. PMID 20225030 DOI: 10.1007/978-90-481-2813-6_16 |
0.764 |
|
| 2009 |
Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, et al. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum Neurology. 73: 1111-1119. PMID 19805727 DOI: 10.1212/Wnl.0B013E3181Bacf59 |
0.549 |
|
| 2009 |
Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Human Molecular Genetics. 18: 3462-9. PMID 19542096 DOI: 10.1093/Hmg/Ddp290 |
0.497 |
|
| 2009 |
Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, et al. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America. 106: 9004-9. PMID 19451621 DOI: 10.1073/Pnas.0812937106 |
0.372 |
|
| 2009 |
Le Caignec C, Kwiatkowski DJ, Küry S, Hardouin JB, Melki J, David A. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. European Journal of Human Genetics : Ejhg. 17: 1165-70. PMID 19259131 DOI: 10.1038/Ejhg.2009.28 |
0.423 |
|
| 2009 |
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, ... ... Melki J, et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics : Ejhg. 17: 395-400. PMID 19225462 DOI: 10.1038/Ejhg.2008.200 |
0.399 |
|
| 2009 |
Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. American Journal of Human Genetics. 84: 80-4. PMID 19110212 DOI: 10.1016/j.ajhg.2008.12.004 |
0.3 |
|
| 2007 |
Vitte J, Fassier C, Tiziano FD, Dalard C, Soave S, Roblot N, Brahe C, Saugier-Veber P, Bonnefont JP, Melki J. Refined characterization of the expression and stability of the SMN gene products. The American Journal of Pathology. 171: 1269-80. PMID 17717146 DOI: 10.2353/Ajpath.2007.070399 |
0.749 |
|
| 2007 |
Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M. A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. European Journal of Human Genetics : Ejhg. 15: 1054-62. PMID 17609673 DOI: 10.1038/Sj.Ejhg.5201885 |
0.323 |
|
| 2006 |
Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L, Thorel A, Mouisel E, Fonknechten N, Roblot N, Seilhean D, Diérich A, Hauw JJ, Melki J. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Human Molecular Genetics. 15: 3544-58. PMID 17101632 DOI: 10.1093/Hmg/Ddl431 |
0.722 |
|
| 2006 |
Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain : a Journal of Neurology. 129: 1456-62. PMID 16434418 DOI: 10.1093/Brain/Awl012 |
0.493 |
|
| 2006 |
Olaso R, Joshi V, Fernandez J, Roblot N, Courageot S, Bonnefont JP, Melki J. Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN. Physiological Genomics. 24: 97-104. PMID 16118268 DOI: 10.1152/Physiolgenomics.00134.2005 |
0.5 |
|
| 2005 |
Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, et al. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 15: 802-16. PMID 16202598 DOI: 10.1016/J.Nmd.2005.07.005 |
0.474 |
|
| 2004 |
Tarrade A, Fassier C, Melki J. [Neuropathies and small heat shock proteins]. Medecine Sciences : M/S. 20: 1073-5. PMID 15581457 DOI: 10.1051/Medsci/200420121073 |
0.308 |
|
| 2004 |
Vitte JM, Davoult B, Roblot N, Mayer M, Joshi V, Courageot S, Tronche F, Vadrot J, Moreau MH, Kemeny F, Melki J. Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. The American Journal of Pathology. 165: 1731-41. PMID 15509541 DOI: 10.1016/S0002-9440(10)63428-1 |
0.746 |
|
| 2004 |
Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Human Mutation. 23: 525-526. PMID 15108294 DOI: 10.1002/Humu.9241 |
0.317 |
|
| 2003 |
Haddad H, Cifuentes-Diaz C, Miroglio A, Roblot N, Joshi V, Melki J. Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. Muscle & Nerve. 28: 432-7. PMID 14506714 DOI: 10.1002/Mus.10455 |
0.496 |
|
| 2003 |
Lesbordes JC, Cifuentes-Diaz C, Miroglio A, Joshi V, Bordet T, Kahn A, Melki J. Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Human Molecular Genetics. 12: 1233-9. PMID 12761038 DOI: 10.1093/Hmg/Ddg143 |
0.483 |
|
| 2003 |
Nicole S, Desforges B, Millet G, Lesbordes J, Cifuentes-Diaz C, Vertes D, Cao ML, De Backer F, Languille L, Roblot N, Joshi V, Gillis JM, Melki J. Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. The Journal of Cell Biology. 161: 571-82. PMID 12743106 DOI: 10.1083/Jcb.200210117 |
0.401 |
|
| 2003 |
Charvin D, Cifuentes-Diaz C, Fonknechten N, Joshi V, Hazan J, Melki J, Betuing S. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Human Molecular Genetics. 12: 71-8. PMID 12490534 DOI: 10.1093/Hmg/Ddg004 |
0.461 |
|
| 2002 |
Cifuentes-Diaz C, Frugier T, Melki J. Spinal muscular atrophy. Seminars in Pediatric Neurology. 9: 145-50. PMID 12138998 DOI: 10.1053/Spen.2002.33801 |
0.46 |
|
| 2002 |
Nicole S, Diaz CC, Frugier T, Melki J. Spinal muscular atrophy: recent advances and future prospects. Muscle & Nerve. 26: 4-13. PMID 12115944 DOI: 10.1002/Mus.10110 |
0.503 |
|
| 2002 |
Frugier T, Nicole S, Cifuentes-Diaz C, Melki J. The molecular bases of spinal muscular atrophy. Current Opinion in Genetics & Development. 12: 294-8. PMID 12076672 DOI: 10.1016/S0959-437X(02)00301-5 |
0.504 |
|
| 2002 |
Cifuentes-Diaz C, Nicole S, Velasco ME, Borra-Cebrian C, Panozzo C, Frugier T, Millet G, Roblot N, Joshi V, Melki J. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Human Molecular Genetics. 11: 1439-47. PMID 12023986 DOI: 10.1093/Hmg/11.12.1439 |
0.488 |
|
| 2002 |
Echaniz-Laguna A, Guiraud-Chaumeil C, Tranchant C, Reeber A, Melki J, Warter JM. Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. Journal of Neurology. 249: 290-3. PMID 11993528 DOI: 10.1007/S004150200007 |
0.478 |
|
| 2001 |
Skordis LA, Dunckley MG, Burglen L, Campbell L, Talbot K, Patel S, Melki J, Davies KE, Dubowitz V, Muntoni F. Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. Human Genetics. 108: 356-7. PMID 11379882 DOI: 10.1007/S004390100497 |
0.498 |
|
| 2001 |
Cifuentes-Diaz C, Frugier T, Tiziano FD, Lacène E, Roblot N, Joshi V, Moreau MH, Melki J. Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy Journal of Cell Biology. 152: 1107-1114. PMID 11238465 DOI: 10.1083/Jcb.152.5.1107 |
0.44 |
|
| 2001 |
Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nature Genetics. 27: 181-186. PMID 11175786 DOI: 10.1038/84818 |
0.386 |
|
| 2000 |
Frugier T, Tiziano FD, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, Meur ML, Melki J. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy Human Molecular Genetics. 9: 849-858. PMID 10749994 DOI: 10.1093/Hmg/9.5.849 |
0.516 |
|
| 2000 |
Bartholdi D, Gonzalez H, Borg K, Melki J. Absence of SMN gene deletion in post-polio syndrome. Neuromuscular Disorders. 10: 99. PMID 10714583 DOI: 10.1016/S0960-8966(99)00076-0 |
0.354 |
|
| 2000 |
Baron-Delage S, Abadie A, Echaniz-Laguna A, Melki J, Beretta L. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes. Molecular Medicine. 6: 957-968. DOI: 10.1007/Bf03401830 |
0.445 |
|
| 1999 |
Echaniz-Laguna A, Miniou P, Bartholdi D, Melki J. The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. American Journal of Human Genetics. 64: 1365-1370. PMID 10205267 DOI: 10.1086/302372 |
0.455 |
|
| 1998 |
Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J. The Role of the SMN Gene in Proximal Spinal Muscular Atrophy Human Molecular Genetics. 7: 1531-1536. PMID 9735373 DOI: 10.1093/Hmg/7.10.1531 |
0.503 |
|
| 1997 |
Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genetics. 16: 265-9. PMID 9207792 DOI: 10.1038/Ng0797-265 |
0.485 |
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| 1997 |
Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J. SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease. Journal of Medical Genetics. 34: 507-508. PMID 9192274 DOI: 10.1136/Jmg.34.6.507 |
0.585 |
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| 1997 |
Navon R, Khosravi R, Melki J, Drucker L, Fontaine B, Turpin JC, N'Guyen B, Fardeau M, Rondot P, Baumann N. Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene. Annals of Neurology. 41: 631-8. PMID 9153525 DOI: 10.1002/Ana.410410512 |
0.485 |
|
| 1997 |
Viollet L, Bertrandy S, Brunialti ALB, Lefebvre S, Burlet P, Clermont O, Cruaud C, Guénet J, Munnich A, Melki J. cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics. 40: 185-188. PMID 9070939 DOI: 10.1006/Geno.1996.4551 |
0.479 |
|
| 1997 |
Raclin V, Veber PS, Bürglen L, Munnich A, Melki J. De novo deletions in spinal muscular atrophy: implications for genetic counselling. Journal of Medical Genetics. 34: 86-87. PMID 9032657 DOI: 10.1136/Jmg.34.1.86 |
0.381 |
|
| 1997 |
Bürglen L, Amiel J, Viollet L, Lefebre S, Burlet L, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Délétion du gène SMN dans l'association arthrogrypose-amyotrophie spinale infantile Archives De Pediatrie. 4: 908. DOI: 10.1016/S0929-693X(97)88177-8 |
0.306 |
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| 1997 |
Lefebvre S, Bartholdi D, Miniou P, Munnich A, Melki J. 1-02-11 Spinal muscular atrophy: Etiology and pathogenesis Journal of the Neurological Sciences. 150. DOI: 10.1016/S0022-510X(97)84846-0 |
0.357 |
|
| 1996 |
Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G. Frameshift Mutation in the Survival Motor Neuron Gene in a Severe Case Of SMA Type I Human Molecular Genetics. 5: 1971-1976. PMID 8968751 DOI: 10.1093/Hmg/5.12.1971 |
0.509 |
|
| 1996 |
Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Structure and Organization of the Human Survival Motor Neurone (SMN) Gene Genomics. 32: 479-482. PMID 8838816 DOI: 10.1006/Geno.1996.0147 |
0.479 |
|
| 1996 |
Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. Journal of Clinical Investigation. 98: 1130-1132. PMID 8787675 DOI: 10.1172/Jci118895 |
0.524 |
|
| 1996 |
Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. Journal of Medical Genetics. 33: 281-283. PMID 8730281 DOI: 10.1136/Jmg.33.4.281 |
0.434 |
|
| 1996 |
Bertrandy S, Lefebvre S, Burlet P, Bürglen L, Clermont O, Viollet L, Munnich A, Melki J. Approche moléculaire d'une dégénérescence du motoneurone spinal : les maladies de Werdnig-Hoffmann et de Kugelberg-Welander Annales De L'Institut Pasteur. 7: 187-192. DOI: 10.1016/S0924-4204(97)83523-8 |
0.33 |
|
| 1995 |
Clermont O, Burlet P, Lefebvre S, Bürglen L, Munnich A, Melki J. SMN gene deletions in adult-onset spinal muscular atrophy The Lancet. 346: 1712-1713. PMID 8551862 DOI: 10.1016/S0140-6736(95)92881-2 |
0.398 |
|
| 1995 |
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Paslier DL, Frézal J, Cohen D, Weissenbach J, Munnich A, ... Melki J, et al. Identification and characterization of a spinal muscular atrophy-determining gene Cell. 80: 155-165. PMID 7813012 DOI: 10.1016/0092-8674(95)90460-3 |
0.488 |
|
| 1995 |
Bürglen L, Frézal J, Munnich A, Melki J. Identification du gène responsable des amyotrophies spinales: perspectives Archives De Pediatrie. 2: 505-507. PMID 7640748 DOI: 10.1016/0929-693X(96)81191-2 |
0.318 |
|
| 1995 |
Burglen L, Spiegel R, Ignatius J, Cobben J, Landrieu P, Lefebvre S, Munnich A, Melki J. SMN gene deletion in variant of infantile spinal muscular atrophy. The Lancet. 346: 316-317. PMID 7630275 DOI: 10.1016/S0140-6736(95)92206-7 |
0.441 |
|
| 1995 |
Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, Melki J. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genetics. 11: 335-337. PMID 7581461 DOI: 10.1038/Ng1195-335 |
0.56 |
|
| 1994 |
Mérette C, Brzustowicz LM, Daniels RJ, Davies KE, Gilliam TC, Melki J, Munnich A, Pericak-Vance MA, Siddique T, Voosen B. An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. Genomics. 21: 27-33. PMID 8088801 DOI: 10.1006/Geno.1994.1220 |
0.347 |
|
| 1994 |
Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Paslier DL. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 264: 1474-1477. PMID 7910982 DOI: 10.1126/Science.7910982 |
0.426 |
|
| 1993 |
Melki J, Burlet P, Clermont O, Pascal F, Paul B, Abdelhak S, Sherrington R, Gurling H, Nakamura Y, Weissenbach J. Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene. Genomics. 15: 521-4. PMID 8096827 DOI: 10.1006/Geno.1993.1103 |
0.391 |
|
| 1993 |
Silveira I, Manaia A, Melki J, Magarino C, Lunkes A, Hernandez A, Gispert S, Burlet P, Rozet JM, Coutinho P, Loureiro JEL, Guimaraes J, Auburger G, Munnich A, Sequeiros J. Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2) Genomics. 17: 556-559. PMID 7902323 DOI: 10.1006/Geno.1993.1371 |
0.335 |
|
| 1992 |
Hentati A, Lamy C, Melki J, Zuber M, Munnich A, Recondo Jd. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Genomics. 12: 155-157. PMID 1733853 DOI: 10.1016/0888-7543(92)90419-S |
0.456 |
|
| 1992 |
Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet ML, Dumez Y. Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. Journal of Medical Genetics. 29: 171-4. PMID 1348092 DOI: 10.1136/Jmg.29.3.171 |
0.346 |
|
| 1991 |
Melki J, Blondet B, Pinçon-Raymond M, Dreyfus P, Rieger F. Generalized molecular defects of the neuromuscular junction in skeletal muscle of the wobbler mutant mouse Neurochemistry International. 18: 425-433. PMID 20504721 DOI: 10.1016/0197-0186(91)90176-E |
0.343 |
|
| 1990 |
Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Frézal J, Munnich A, Lathrop MG. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14 The Lancet. 336: 271-273. PMID 1973971 DOI: 10.1016/0140-6736(90)91803-I |
0.377 |
|
| 1990 |
Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, Fontan D, Ponsot G, Billette T, Angelini C, Barbosa C, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q Nature. 344: 767-768. PMID 1970420 DOI: 10.1038/344767A0 |
0.394 |
|
| 1989 |
Blondet B, Duxson MJ, Harris AJ, Melki J, Guénet J-, Pinçon-Raymond M, Rieger F. Nerve and muscle development in paralysé mutant mice. Developmental Biology. 132: 153-166. PMID 2917690 DOI: 10.1016/0012-1606(89)90213-3 |
0.315 |
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