Brigitte Estournet-Mathiaud
Garches, France
Last Updated: 09/26/2026
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Found 20 publications
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Journal: Neurology
Published: December 09, 2019
Diaphragmatic dysfunction in SEPN1-related myopathy.
Journal: Neuromuscular disorders : NMD
Published: December 15, 2016
Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.
Journal: Pediatric neurology
Published: December 09, 2016
Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.
Journal: Journal of neuromuscular diseases
Published: November 19, 2016
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Journal: Neuromuscular disorders : NMD
Published: May 10, 2014
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Journal: Acta neuropathologica communications
Published: March 18, 2014
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Journal: Human molecular genetics
Published: December 10, 2013
What a tracheostomy changes in a child with a neuromuscular disease
Journal: Recherche en soins infirmiers
Published: November 19, 2013
Diaphragmatic dysfunction in Collagen VI myopathies.
Journal: Neuromuscular disorders : NMD
Published: July 25, 2013
Respiratory care in neuromuscular disorders.
Journal: Handbook of clinical neurology
Published: April 30, 2013
Last Updated: 09/26/2026