Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 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.

21.

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.

Renvoisé B, Colasse S, Burlet P, Viollet L, Meier UT, Lefebvre S.

Hum Mol Genet. 2009 Apr 1;18(7):1181-9. doi: 10.1093/hmg/ddp009. Epub 2009 Jan 7.

22.

Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy.

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

Am J Cardiol. 2009 Jan 15;103(2):262-5. doi: 10.1016/j.amjcard.2008.08.064. Epub 2008 Oct 30.

PMID:
19121448
23.

Early divergence in lymphoid tissue apoptosis between pathogenic and nonpathogenic simian immunodeficiency virus infections of nonhuman primates.

Cumont MC, Diop O, Vaslin B, Elbim C, Viollet L, Monceaux V, Lay S, Silvestri G, Le Grand R, Müller-Trutwin M, Hurtrel B, Estaquier J.

J Virol. 2008 Feb;82(3):1175-84. Epub 2007 Nov 21.

24.

CD4+ CCR5+ T-cell dynamics during simian immunodeficiency virus infection of Chinese rhesus macaques.

Monceaux V, Viollet L, Petit F, Cumont MC, Kaufmann GR, Aubertin AM, Hurtrel B, Silvestri G, Estaquier J.

J Virol. 2007 Dec;81(24):13865-75. Epub 2007 Sep 26.

25.

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.

Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.

PMID:
17634419
26.
27.

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

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.

Eur J Hum Genet. 2007 Oct;15(10):1054-62. Epub 2007 Jul 4.

28.

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C.

Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16.

29.

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.

Fischer D, Herasse M, Ferreiro A, Barragán-Campos HM, Chiras J, Viollet L, Maugenre S, Leroy JP, Monnier N, Lunardi J, Guicheney P, Fardeau M, Romero NB.

Neurology. 2006 Dec 26;67(12):2217-20.

PMID:
17190947
30.

Death of CD4+ T cells from lymph nodes during primary SIVmac251 infection predicts the rate of AIDS progression.

Viollet L, Monceaux V, Petit F, Ho Tsong Fang R, Cumont MC, Hurtrel B, Estaquier J.

J Immunol. 2006 Nov 15;177(10):6685-94.

31.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L.

Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25.

PMID:
16728649
32.

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

Romero NB, Herasse M, Monnier N, Leroy JP, Fischer D, Ferreiro A, Viollet L, Eymard B, Laforêt P, Monges S, Lubieniecki F, Taratuto AL, Guicheney P, Lunardi J, Fardeau M.

Acta Myol. 2005 Oct;24(2):70-3. Review.

PMID:
16550918
33.

Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells.

Renvoisé B, Khoobarry K, Gendron MC, Cibert C, Viollet L, Lefebvre S.

J Cell Sci. 2006 Feb 15;119(Pt 4):680-92. Epub 2006 Jan 31.

34.

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Quijano-Roy S, Martí-Carrera I, Makri S, Mayer M, Maugenre S, Richard P, Berard C, Viollet L, Leheup B, Guicheney P, Pinard JM, Estournet B, Carlier RY.

Brain Dev. 2006 May;28(4):232-42. Epub 2005 Dec 20.

PMID:
16368217
35.

HIV-1 triggers mitochondrion death.

Arnoult D, Viollet L, Petit F, Lelièvre JD, Estaquier J.

Mitochondrion. 2004 Jul;4(2-3):255-69.

PMID:
16120390
36.

CD8+ T cell dynamics during primary simian immunodeficiency virus infection in macaques: relationship of effector cell differentiation with the extent of viral replication.

Monceaux V, Viollet L, Petit F, Ho Tsong Fang R, Cumont MC, Zaunders J, Hurtrel B, Estaquier J.

J Immunol. 2005 Jun 1;174(11):6898-908.

37.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.

Hum Mutat. 2004 May;23(5):525-6.

PMID:
15108294
38.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A.

Eur J Hum Genet. 2004 Jun;12(6):483-8.

39.

Intrinsic and extrinsic pathways signaling during HIV-1 mediated cell death.

Petit F, Arnoult D, Viollet L, Estaquier J.

Biochimie. 2003 Aug;85(8):795-811. Review.

PMID:
14585547
40.

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M.

Brain. 2003 Nov;126(Pt 11):2341-9. Epub 2003 Aug 22.

PMID:
12937085
41.

Evoked potentials in spinal muscular atrophy.

Cheliout-Heraut F, Barois A, Urtizberea A, Viollet L, Estournet-Mathiaud B.

J Child Neurol. 2003 Jun;18(6):383-90.

PMID:
12886971
42.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S.

Ann Neurol. 2002 May;51(5):585-92.

PMID:
12112104
43.

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

Lefebvre S, Burlet P, Viollet L, Bertrandy S, Huber C, Belser C, Munnich A.

Hum Mol Genet. 2002 May 1;11(9):1017-27.

PMID:
11978761
44.

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

Mégarbané A, Delague V, Ruchoux MM, Rizkallah E, Maurage CA, Viollet L, Rouaix-Emery N, Urtizberea A.

Am J Med Genet. 2001 Jun 15;101(2):135-41.

PMID:
11391656
45.

Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy.

Ravard-Goulvestre C, Boucly C, Mathieu B, Van Amerongen G, Viollet L, Estournet B, Barois A, de Mazancourt P.

Clin Chem Lab Med. 1999 Feb;37(2):133-5.

PMID:
10219501
46.

[Basedow's disease in an adolescent with histiocytosis X].

Viollet L, Commare-Nordmann MC, Langlais J, Polak M, Donadieu J.

Arch Pediatr. 1997 Jul;4(7):656-8. French.

PMID:
9295905
47.

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

Viollet L, Bertrandy S, Bueno Brunialti AL, Lefebvre S, Burlet P, Clermont O, Cruaud C, Guénet JL, Munnich A, Melki J.

Genomics. 1997 Feb 15;40(1):185-8.

PMID:
9070939
48.

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J.

J Clin Invest. 1996 Sep 1;98(5):1130-2.

49.

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J.

J Med Genet. 1996 Apr;33(4):281-3.

50.

Structure and organization of the human survival motor neurone (SMN) gene.

Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J.

Genomics. 1996 Mar 15;32(3):479-82.

PMID:
8838816

Supplemental Content

Loading ...
Support Center