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Items: 1 to 20 of 51

1.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

2.

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.

Catteruccia M, Vuillerot C, Vaugier I, Leclair D, Azzi V, Viollet L, Estournet B, Bertini E, Quijano-Roy S.

J Neuromuscul Dis. 2015 Nov 21;2(4):453-462.

3.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 Aug 31;10(8):e0137370. doi: 10.1371/journal.pone.0137370. eCollection 2015. No abstract available.

4.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137370.

5.

Resistance strength training exercise in children with spinal muscular atrophy.

Lewelt A, Krosschell KJ, Stoddard GJ, Weng C, Xue M, Marcus RL, Gappmaier E, Viollet L, Johnson BA, White AT, Viazzo-Trussell D, Lopes P, Lane RH, Carey JC, Swoboda KJ.

Muscle Nerve. 2015 Oct;52(4):559-67. doi: 10.1002/mus.24568.

6.

Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect.

Flanigan KM, Campbell K, Viollet L, Wang W, Gomez AM, Walker CM, Mendell JR.

Hum Gene Ther. 2013 Sep;24(9):797-806. doi: 10.1089/hum.2013.092.

7.

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
8.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

9.

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.

Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L.

Ann Neurol. 2012 Apr;71(4):509-19. doi: 10.1002/ana.22684.

PMID:
22522442
10.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.

Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P.

J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6.

PMID:
22481384
11.

Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy.

Viollet L, Thrush PT, Flanigan KM, Mendell JR, Allen HD.

Am J Cardiol. 2012 Jul 1;110(1):98-102. doi: 10.1016/j.amjcard.2012.02.064. Epub 2012 Mar 29.

PMID:
22463839
12.

Knee extensor strength exhibits potential to predict function in sporadic inclusion-body myositis.

Lowes LP, Alfano L, Viollet L, Rosales XQ, Sahenk Z, Kaspar BK, Clark KR, Flanigan KM, Mendell JR, McDermott MP.

Muscle Nerve. 2012 Feb;45(2):163-8. doi: 10.1002/mus.22321.

13.

Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

Abbara C, Estournet B, Lacomblez L, Lelièvre B, Ouslimani A, Lehmann B, Viollet L, Barois A, Diquet B.

Br J Clin Pharmacol. 2011 Mar;71(3):403-10. doi: 10.1111/j.1365-2125.2010.03843.x.

14.

Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy.

Malik V, Rodino-Klapac LR, Viollet L, Mendell JR.

Ther Adv Neurol Disord. 2010 Nov;3(6):379-89. doi: 10.1177/1756285610388693.

15.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
16.

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy.

Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, Lewis S, Shilling CJ, Kota J, Serrano-Munuera C, Hayes J, Mahan JD, Campbell KJ, Banwell B, Dasouki M, Watts V, Sivakumar K, Bien-Willner R, Flanigan KM, Sahenk Z, Barohn RJ, Walker CM, Mendell JR.

Ann Neurol. 2010 Jun;67(6):771-80. doi: 10.1002/ana.22024.

PMID:
20517938
17.

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL.

Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291. Review.

18.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B.

J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11.

PMID:
20012313
19.

Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.

Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craenen JM, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Viollet L, Walker CM, Sahenk Z, Clark KR.

Ann Neurol. 2009 Sep;66(3):290-7. doi: 10.1002/ana.21732.

20.

Utility of cystatin C to monitor renal function in Duchenne muscular dystrophy.

Viollet L, Gailey S, Thornton DJ, Friedman NR, Flanigan KM, Mahan JD, Mendell JR.

Muscle Nerve. 2009 Sep;40(3):438-42. doi: 10.1002/mus.21420.

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