L. Viollet

发表

Identification and characterization of a spinal muscular atrophy-determining gene

J. Weissenbach, D. Paslier, A. Munnich, 1995, Cell.

Allele-Specific Amplification for the Diagnosis of Autosomal Recessive Spinal Muscular Atrophy

L. Viollet, Claire Ravard-Goulvestre, C. Boucly, 1999, Clinical chemistry and laboratory medicine.

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

N. Romero, L. Viollet, J. Leroy, 2003, Brain : a journal of neurology.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

David B. Goldstein, Bertrand Fontaine, Stephany C. Koelewijn, 2012, Nature Genetics.

Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

L. Viollet, B. Estournet, A. Barois, 2011, British journal of clinical pharmacology.

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

R. Carlier, L. Viollet, B. Estournet, 2006, Brain and Development.

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

S. Blumen, R. Carasso, N. Blumen, 2012, Annals of neurology.

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

A. Mégarbané, L. Viollet, C. Maurage, 2001, American journal of medical genetics.

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

A. Munnich, J. Melki, A. Verloes, 1996, The Journal of clinical investigation.

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

A. Munnich, J. Melki, C. Cruaud, 1996, Genomics.

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

A. Munnich, J. Melki, J. Guénet, 1997, Genomics.

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

A. Munnich, S. Lefebvre, P. Burlet, 2002, Human molecular genetics.

Spinal muscular atrophies.

J. Melki, L. Viollet, 2013, Handbook of clinical neurology.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

A. Munnich, J. Melki, L. Viollet, 2004, Human mutation.

Allelic Heterogeneity of SMARD1 at the IGHMBP2

A. Munnich, J. Melki, L. Viollet, 2004 .

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

I. Nelson, A. Toutain, J. Deleuze, 2020, European journal of medical genetics.

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

E. Bertini, L. Viollet, B. Estournet, 2015, Journal of neuromuscular diseases.

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

J. Melki, A. Toutain, T. Frebourg, 2007, European Journal of Human Genetics.

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

A. Munnich, A. Mamoune, S. Rahman, 2012, Journal of Inherited Metabolic Disease.

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

P. Bergh, N. Romero, L. Viollet, 2008 .

New POMT2 mutations causing congenital muscular dystrophy

N. Romero, F. Leturcq, L. Viollet, 2007, Neurology.

Evoked Potentials in Spinal Muscular Atrophy

L. Viollet, A. Barois, A. Urtizberea, 2003, Journal of child neurology.

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency

J. Casanova, L. Abel, S. Lyonnet, 2010, American journal of medical genetics. Part A.

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

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

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

N. Romero, J. Chiras, L. Viollet, 2006, Neurology.

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

A. Munnich, J. Melki, S. Lefebvre, 1996, Journal of medical genetics.

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

S. Lefebvre, L. Viollet, M. Gendron, 2006, Journal of Cell Science.

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

A. Munnich, P. Vannuffel, L. Viollet, 2007, American journal of human genetics.

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

A. Munnich, K. Bushby, R. Adams, 2002, Annals of neurology.

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

Matthew T. Sweney, J. Roach, D. Galas, 2015, PLoS ONE.

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

Jared C. Roach, Gustavo Glusman, Fengfeng Zhou, 2015, PloS one.

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

Frederick Andermann, Masayuki Sasaki, Allison Brashear, 2017, Neurology: Genetics.

Resistance strength training exercise in children with spinal muscular atrophy

J. Carey, L. Viollet, K. Swoboda, 2015, Muscle & nerve.

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

S. Lefebvre, P. Burlet, L. Viollet, 2009, Human molecular genetics.

Werdnig-Hoffmann disease

A. Munnich, J. Melki, S. Lefebvre, 2004 .

Baseline characteristics from TANGO: Phase 2 study to evaluate gosuranemab (BIIB092) in patients with early Alzheimer’s disease

D. Walsh, L. Viollet, J. O’Gorman, 2020, Alzheimer's & Dementia.

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

A. Munnich, F. Renault, S. Lefebvre, 2006, Neurology.

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

Matthew T. Sweney, J. Roach, D. Galas, 2015, PloS one.

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

A. Munnich, D. Bonneau, L. Viollet, 2004, European Journal of Human Genetics.

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

N. Romero, L. Viollet, P. Laforêt, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.