Herve Testard
Grenoble, France
Last Updated: 09/26/2026
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Found 9 publications
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant.
Journal: Journal of neuromuscular diseases
Published: June 25, 2025
Neurological manifestations in children with SARS-CoV-2 infection: a French multicentric cohort.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 30, 2024
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.
Journal: Orphanet journal of rare diseases
Published: May 09, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: January 30, 2023
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Journal: Orphanet journal of rare diseases
Published: October 04, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Journal: Neurology
Published: February 22, 2018
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.
Journal: JIMD reports
Published: September 24, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Journal: Clinical genetics
Published: September 13, 2015
7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
Journal: American journal of medical genetics. Part A
Published: January 02, 2014
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Last Updated: 09/26/2026