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Items: 1 to 50 of 228

1.

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, Apartis E, Boespflug-Tanguy O, Mochel F.

Tremor Other Hyperkinet Mov (N Y). 2019 Jul 17;9. doi: 10.7916/tohm.v0.641. eCollection 2019.

2.

[Stretching and chylothorax].

Bottet B, Melki J, Levesque H, Baste JM, Roussel E, Peillon C.

Rev Mal Respir. 2019 Jun;36(6):742-746. doi: 10.1016/j.rmr.2019.04.004. Epub 2019 Jun 21. French.

PMID:
31235335
3.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

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, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M.

Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. No abstract available.

PMID:
30912852
4.
5.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
6.

Taenia solium cysticercosis in West Africa: status update.

Melki J, Koffi E, Boka M, Touré A, Soumahoro MK, Jambou R.

Parasite. 2018;25:49. doi: 10.1051/parasite/2018048. Epub 2018 Sep 18. Review.

7.

A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.

Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues MD, Rosa JP, Petermann R, Maurey H, Auditeau C, Lasne D, Denis CV, Bryckaert M, de Lonlay P, Lavenu-Bombled C, Melki J, Borgel D.

Haematologica. 2018 Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028. Epub 2018 Aug 16. No abstract available.

8.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

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, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network.

JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121.

9.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

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.

Brain. 2018 Apr 1;141(4):979-988. doi: 10.1093/brain/awy020.

PMID:
29444212
10.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

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, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F.

Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18.

11.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

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.

Hum Mol Genet. 2017 Oct 15;26(20):3989-3994. doi: 10.1093/hmg/ddx288.

PMID:
29016857
12.

Using media to impact health policy-making: an integrative systematic review.

Bou-Karroum L, El-Jardali F, Hemadi N, Faraj Y, Ojha U, Shahrour M, Darzi A, Ali M, Doumit C, Langlois EV, Melki J, AbouHaidar GH, Akl EA.

Implement Sci. 2017 Apr 18;12(1):52. doi: 10.1186/s13012-017-0581-0. Review.

13.

The Interest of Performing "On-Demand Chest X-rays" after Lung Resection by Minimally Invasive Surgery.

Haddad L, Bubenheim M, Bernard A, Melki J, Peillon C, Baste JM.

Thorac Cardiovasc Surg. 2017 Oct;65(7):572-580. doi: 10.1055/s-0037-1599793. Epub 2017 Apr 11.

PMID:
28399601
14.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

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, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J.

Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.

15.

[Thymomectomy by minimally invasive surgery. Comparative study videosurgery versus robot-assisted surgery].

Witte Pfister A, Baste JM, Piton N, Bubenheim M, Melki J, Wurtz A, Peillon C.

Rev Mal Respir. 2017 May;34(5):544-552. doi: 10.1016/j.rmr.2017.01.002. Epub 2017 Feb 16. French.

PMID:
28216170
16.

Video-assisted thoracic surgery for left upper lobectomy for complex lesions: how to extend the indication with optimal safety?

Bayard NF, Barnett SA, Rinieri P, Melki J, Peillon C, Baste JM.

Acta Chir Belg. 2016 Aug;116(4):231-233. Epub 2016 Aug 15. Review.

PMID:
27685705
17.

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H, Melki J.

Epileptic Disord. 2016 Sep 1;18(S2):128-134. Review.

PMID:
27647482
18.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.

Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8.

19.

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

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, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J.

Am J Med Genet A. 2017 Jan;173(1):62-71. doi: 10.1002/ajmg.a.37969. Epub 2016 Sep 12.

PMID:
27615324
20.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

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, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J.

JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.

21.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

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, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

22.

Reply: To PMID 25841862.

Baste JM, Haddad L, Melki J, Peillon C.

Ann Thorac Surg. 2015 Nov;100(5):1966. doi: 10.1016/j.athoracsur.2015.05.016. No abstract available.

PMID:
26522553
23.

Mediastinal Bronchogenic Cyst With Acute Cardiac Dysfunction: Two-Stage Surgical Approach.

Smail H, Baste JM, Melki J, Peillon C.

Ann Thorac Surg. 2015 Oct;100(4):e79-80. doi: 10.1016/j.athoracsur.2015.06.059.

PMID:
26434484
24.

Fetal phenotypes in otopalatodigital spectrum disorders.

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, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P.

Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29.

PMID:
26404489
25.

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J.

Am J Hum Genet. 2015 Oct 1;97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10.

26.

[Implementation of a robotic video-assisted thoracic surgical program].

Baste JM, Riviera C, Nouhaud FX, Rinieri P, Melki J, Peillon C.

Rev Mal Respir. 2016 Mar;33(3):207-17. doi: 10.1016/j.rmr.2015.05.004. Epub 2015 Jul 7. French.

PMID:
26163391
27.

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

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, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.

Am J Hum Genet. 2015 Jun 4;96(6):955-61. doi: 10.1016/j.ajhg.2015.04.014. Epub 2015 May 21.

28.

Robot-Assisted Thoracoscopic Surgery versus Video-Assisted Thoracoscopic Surgery for Lung Lobectomy: Can a Robotic Approach Improve Short-Term Outcomes and Operative Safety?

Mahieu J, Rinieri P, Bubenheim M, Calenda E, Melki J, Peillon C, Baste JM.

Thorac Cardiovasc Surg. 2016 Jun;64(4):354-62. doi: 10.1055/s-0035-1548733. Epub 2015 Apr 13.

PMID:
25866978
29.

Anterior subcarinal node dissection on the left side using video thoracoscopy: an easier technique.

Baste JM, Haddad L, Melki J, Peillon C.

Ann Thorac Surg. 2015 Apr;99(4):e99-e101. doi: 10.1016/j.athoracsur.2014.12.078.

PMID:
25841862
30.

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Haliloglu G, Maluenda J, Sayinbatur B, Aumont C, Temucin C, Tavil B, Cetin M, Oguz KK, Gut I, Picard V, Melki J, Topaloglu H.

Neurology. 2015 Mar 24;84(12):1220-4. doi: 10.1212/WNL.0000000000001391. Epub 2015 Feb 25.

PMID:
25716358
31.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

32.

An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.

Steichen C, Maluenda J, Tosca L, Luce E, Pineau D, Dianat N, Hannoun Z, Tachdjian G, Melki J, Dubart-Kupperschmitt A.

Stem Cells Transl Med. 2015 Mar;4(3):224-9. doi: 10.5966/sctm.2014-0186. Epub 2015 Feb 3.

33.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

34.

Media exposure, mediated social comparison to idealized images of muscularity, and anabolic steroid use.

Melki JP, Hitti EA, Oghia MJ, Mufarrij AA.

Health Commun. 2015;30(5):473-84. doi: 10.1080/10410236.2013.867007. Epub 2014 Jun 27.

PMID:
24972038
35.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH Jr, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH.

Ann Neurol. 2014 Jul;76(1):120-33. doi: 10.1002/ana.24198. Epub 2014 Jun 27.

36.

[Pulmonary resection using video-assisted thoracoscopic surgery--20 years experience].

Baste JM, Orsini B, Rinieri P, Melki J, Peillon C.

Rev Mal Respir. 2014 Apr;31(4):323-35. doi: 10.1016/j.rmr.2013.10.650. Epub 2014 Jan 30. French.

PMID:
24750952
37.

Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.

Steichen C, Luce E, Maluenda J, Tosca L, Moreno-Gimeno I, Desterke C, Dianat N, Goulinet-Mainot S, Awan-Toor S, Burks D, Marie J, Weber A, Tachdjian G, Melki J, Dubart-Kupperschmitt A.

Stem Cells Transl Med. 2014 Jun;3(6):686-91. doi: 10.5966/sctm.2013-0158. Epub 2014 Apr 15.

38.

National review of use of extracorporeal membrane oxygenation as respiratory support in thoracic surgery excluding lung transplantation.

Rinieri P, Peillon C, Bessou JP, Veber B, Falcoz PE, Melki J, Baste JM.

Eur J Cardiothorac Surg. 2015 Jan;47(1):87-94. doi: 10.1093/ejcts/ezu127. Epub 2014 Mar 21.

PMID:
24659317
39.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

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, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

PMID:
24319099
40.

Improved detection of gastrointestinal pathogens using generalised sample processing and amplification panels.

Siah SP, Merif J, Kaur K, Nair J, Huntington PG, Karagiannis T, Stark D, Rawlinson W, Olma T, Thomas L, Melki JR, Millar DS.

Pathology. 2014 Jan;46(1):53-9. doi: 10.1097/PAT.0000000000000022.

PMID:
24300711
41.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

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, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

42.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ; International Multiple Sclerosis Genetics Consortium, van Es M; Australia and New Zealand MS Genetics Consortium, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chiò A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI.

Hum Mol Genet. 2014 Apr 1;23(7):1916-22. doi: 10.1093/hmg/ddt574. Epub 2013 Nov 13.

43.

Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome.

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, Lombès M, Tost J, Criswell LA, Mariette X.

Blood. 2013 Dec 12;122(25):4068-76. doi: 10.1182/blood-2013-05-503383. Epub 2013 Oct 24.

44.

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Tiziano FD, Melki J, Simard LR.

Am J Med Genet A. 2013 Nov;161A(11):2836-45. doi: 10.1002/ajmg.a.36251. Epub 2013 Oct 3. Review.

PMID:
24124019
45.

Spinal muscular atrophies.

Viollet L, Melki J.

Handb Clin Neurol. 2013;113:1395-411. doi: 10.1016/B978-0-444-59565-2.00010-1. Review.

PMID:
23622363
46.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

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, Estournet B, Jouk PS, Melki J, Lunardi J.

Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11.

PMID:
23236030
47.

Challenging posterior mediastinal mass resection via a minimally invasive approach with neurological monitoring.

Smail H, Baste JM, Melki J, Peillon C.

Eur J Cardiothorac Surg. 2013 Feb;43(2):e44-6. doi: 10.1093/ejcts/ezs592. Epub 2012 Nov 28.

PMID:
23190618
48.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium.

Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5.

49.

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.

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