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M Fardeau

Showing results (201-210 of 289) with videos related to

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Journal of the Neurological Sciences|October 1, 1991
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)P Seibel, F Degoul, G Bonne, et al.
Annals of Neurology|May 1, 1997
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA geneR Navon, R Khosravi, J Melki, et al.
Archives Francaises De Pediatrie|October 1, 1987
[Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology]A Lombes, F Hervé, H Ogier, et al.
Journal of the Neurological Sciences|February 1, 1991
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studiesF Degoul, I Nelson, P Lestienne, et al.
Neurology|May 5, 1998
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetranceE Plassart-Schiess, A Gervais, B Eymard, et al.
American Journal of Human Genetics|June 19, 1998
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36B Moghadaszadeh, I Desguerre, H Topaloglu, et al.
Circulation|November 1, 1988
Effect of latissimus dorsi dynamic cardiomyoplasty on ventricular functionJ C Chachques, P Grandjean, K Schwartz, et al.
Revue Neurologique|April 1, 2000
[Miyoshi distal myopathy: specific signs and incidence]B Eymard, P Laforêt, F M Tomé, et al.
The Journal of Experimental Medicine|August 1, 1995
Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparingT S Khurana, R A Prendergast, H S Alameddine, et al.
Human Genetics|March 1, 1988
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasiaJ Chelly, F Marlhens, B Dutrillaux, et al.
Pageof 29

Showing results (201-210 of 289) with videos related to

Sort By:
Pageof 29
Journal of the Neurological Sciences|October 1, 1991
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)P Seibel, F Degoul, G Bonne, et al.
Annals of Neurology|May 1, 1997
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA geneR Navon, R Khosravi, J Melki, et al.
Archives Francaises De Pediatrie|October 1, 1987
[Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology]A Lombes, F Hervé, H Ogier, et al.
Journal of the Neurological Sciences|February 1, 1991
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studiesF Degoul, I Nelson, P Lestienne, et al.
Neurology|May 5, 1998
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetranceE Plassart-Schiess, A Gervais, B Eymard, et al.
American Journal of Human Genetics|June 19, 1998
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36B Moghadaszadeh, I Desguerre, H Topaloglu, et al.
Circulation|November 1, 1988
Effect of latissimus dorsi dynamic cardiomyoplasty on ventricular functionJ C Chachques, P Grandjean, K Schwartz, et al.
Revue Neurologique|April 1, 2000
[Miyoshi distal myopathy: specific signs and incidence]B Eymard, P Laforêt, F M Tomé, et al.
The Journal of Experimental Medicine|August 1, 1995
Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparingT S Khurana, R A Prendergast, H S Alameddine, et al.
Human Genetics|March 1, 1988
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasiaJ Chelly, F Marlhens, B Dutrillaux, et al.
Pageof 29