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European Journal of Pediatrics|July 1, 1995
Early-onset fatal encephalomyopathy associated with severe mtDNA depletionV Paquis-Flucklinger, J F Pellissier, J Camboulives, et al.
Biochemical and Biophysical Research Communications|November 4, 2000
Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndromeD Perucca-Lostanlen, H Narbonne, J B Hernandez, et al.
Presse Medicale (Paris, France : 1983)|January 8, 1994
[Relationships between rhizomelic pseudo-polyarthritis and mitochondrial myopathy. 24 cases]J R Harlé, P Disdier, G Bolla, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutationsE Plassart, J Reboul, C S Rime, et al.
Archives of Neurology|May 1, 1995
Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia. Results of a double-blind drug-placebo cooperative studyP Trouillas, G Serratrice, D Laplane, et al.
European Journal of Human Genetics : EJHG|June 15, 2000
Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletionsR Paul, C Desnuelle, J Pouget, et al.
Revue Neurologique|September 21, 2023
French National Protocol for genetic of amyotrophic lateral sclerosisP Corcia, P Vourc'h, E Bernard, et al.
Annals of Physical and Rehabilitation Medicine|April 6, 2012
Pain assessment in Charcot-Marie-Tooth (CMT) diseaseC Ribiere, M Bernardin, S Sacconi, et al.
Gene Therapy|June 24, 2005
Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patientsJ-T Vilquin, J-P Marolleau, S Sacconi, et al.
Journal of the Neurological Sciences|March 1, 1991
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular studyL A Bindoff, C Desnuelle, M A Birch-Machin, et al.
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