Publications by authors named "Herve Testard"

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Expanding the spectrum of variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant.
Anthony Maino, Marie Chevallier, Diane Giovannini, Mandy Leger, Anne-Laure Coston, Hervé Testard

J Neuromuscul Dis· November 2025

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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Isabelle Desguerre, Rémi Barrois, Frédérique Audic, Christine Barnerias, Brigitte Chabrol, Hervé Testard

Orphanet J Rare Dis· September 2024

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Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Frédérique Audic, Sonia M Dubois, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Hervé Testard

Arch Pediatr· February 2024

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Herve O Testard

Neurology· January 2024

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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Hervé Testard

Orphanet J Rare Dis· June 2020

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Emmanuelle Lagrue, Céline Dogan, Marie De Antonio, Frédérique Audic, Nathalie Bach, Hervé Testard

Neurology· February 2019

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7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
John Rendu, Véronique Satre, Hervé Testard, Francoise Devillard, Gaëlle Vieville

Am J Med Genet A· August 2014

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Phenotypic variability of episodic ataxia type 2 mutations: a family study.
Julien Jung, Hervé Testard, Elisabeth Tournier-Lasserve, Florence Riant, Anne-Evelyne Vallet

Eur Neurol· November 2010

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Ring 14 chromosome presenting as early-onset isolated partial epilepsy.
Dorothée Ville, Julitta DE Bellescize, Marie Ange Nguyen, Hervé Testard, Agnès Gautier

Dev Med Child Neurol· November 2009

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CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Martin Krahn, Adolfo Lopez de Munain, Nathalie Streichenberger, Rafaëlle Bernard, Christophe Pécheux, Hervé Testard

Ann Neurol· June 2006

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