Publications by authors named "Louis Viollet"

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TANGO: a placebo-controlled randomized phase 2 study of efficacy and safety of the anti-tau monoclonal antibody gosuranemab in early Alzheimer's disease.
Melanie Shulman, Jessica Kong, John O'Gorman, Elena Ratti, Rajasimhan Rajagovindan, Louis Viollet

Nat Aging· December 2023

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A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Louis M Viollet, Kathryn J Swoboda, Rong Mao, Hunter Best, Youna Ha

Eur J Med Genet· December 2020

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Research conference summary from the 2014 International Task Force on -Related Disorders.
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Louis Viollet

Neurol Genet· April 2017

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna

PLoS One· February 2016

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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna

PLoS One· November 2015

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Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.
Michela Catteruccia, Carole Vuillerot, Isabelle Vaugier, Danielle Leclair, Viviane Azzi, Louis Viollet

J Neuromuscul Dis· November 2015

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Resistance strength training exercise in children with spinal muscular atrophy.
Aga Lewelt, Kristin J Krosschell, Gregory J Stoddard, Cindy Weng, Mei Xue, Louis Viollet

Muscle Nerve· October 2015

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Spinal muscular atrophies.
Louis Viollet, Judith Melki

Handb Clin Neurol· March 2014

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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Caroline Michot, Laurence Hubert, Norma B Romero, Amr Gouda, Asmaa Mamoune, Louis Viollet

J Inherit Metab Dis· November 2012

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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Erin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Louis Viollet

Nat Genet· September 2012

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A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
Sergiu C Blumen, Stéphanie Astord, Valérie Robin, Ludivine Vignaud, Nawel Toumi, Louis Viollet

Ann Neurol· April 2012

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Riluzole pharmacokinetics in young patients with spinal muscular atrophy.
Chadi Abbara, Brigitte Estournet, Lucette Lacomblez, Benedicte Lelièvre, Amal Ouslimani, Louis Viollet

Br J Clin Pharmacol· March 2011

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Early onset collagen VI myopathies: Genetic and clinical correlations.
Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Louis Viollet

Ann Neurol· October 2010

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Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, Xiao-Fei Kong, Jacinta Bustamante, Louis Viollet

Am J Med Genet A· March 2010

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The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.
Benoît Renvoisé, Sabrina Colasse, Philippe Burlet, Louis Viollet, U Thomas Meier

Hum Mol Genet· April 2009

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A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Myriam Vezain, Pascale Saugier-Veber, Judith Melki, Annick Toutain, Eric Bieth, Louis Viollet

Eur J Hum Genet· October 2007

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The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Isabelle Maystadt, René Rezsöhazy, Martine Barkats, Sandra Duque, Pascal Vannuffel, Louis Viollet

Am J Hum Genet· July 2007

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Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, Michèle Mayer, Svetlana Maugenre, Louis Viollet

Brain Dev· May 2006

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Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells.
Benoît Renvoisé, Kevinee Khoobarry, Marie-Claude Gendron, Christian Cibert, Louis Viollet

J Cell Sci· February 2006

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Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Louis Viollet, Mohammed Zarhrate, Isabelle Maystadt, Brigitte Estournet-Mathiaut, Annie Barois

Eur J Hum Genet· June 2004

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
Norma Beatriz Romero, Nicole Monnier, Louis Viollet, Anne Cortey, Martine Chevallay

Brain· November 2003

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Evoked potentials in spinal muscular atrophy.
Fawzia Cheliout-Heraut, Annie Barois, Andoni Urtizberea, Louis Viollet, Brigitte Estournet-Mathiaud

J Child Neurol· June 2003

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A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.
Suzie Lefebvre, Philippe Burlet, Louis Viollet, Solange Bertrandy, Céline Huber

Hum Mol Genet· May 2002

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Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
Louis Viollet, Annie Barois, Jean G Rebeiz, Ziad Rifai, Philippe Burlet

Ann Neurol· May 2002

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