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Neuromuscular Disorders : NMD
|
November 2, 1999
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome
B Moghadaszadeh, H Topaloglu, L Merlini, et al.
Anales Espanoles De Pediatria
|
November 1, 1989
[Respiratory chain diseases in infancy. Clinical presentation and diagnosis]
M T García Silva, J P Bonnefont, A Rotig, et al.
American Journal of Human Genetics
|
October 3, 1998
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)
C Donger, E Krejci, A P Serradell, et al.
American Journal of Human Genetics
|
August 1, 1993
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin
K Matsumura, I Nonaka, F M Tomé, et al.
Revue Neurologique
|
March 6, 2003
[Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry]
P Laforêt, C Wary, S Duteil, et al.
The American Journal of Pathology
|
October 20, 1998
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
L V Anderson, K Davison, J A Moss, et al.
Nucleic Acids Research
|
October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome
I Nelson, F Degoul, B Obermaier-Kusser, et al.
American Journal of Human Genetics
|
May 1, 1995
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
N Dahl, L J Hu, M Chery, et al.
Circulation
|
September 1, 1996
Blunted coronary reserve in myotonic dystrophy. An early and gene-related phenomenon
D Annane, P Merlet, H Radvanyi, et al.
Revue Neurologique
|
March 5, 2013
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]
B Eymard, T Stojkovic, D Sternberg, et al.
Page
of 29
Search research articles
Search
Showing results (221-230 of 289) with videos related to
Sort By:
Page
of 29
Neuromuscular Disorders : NMD
|
November 2, 1999
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome
B Moghadaszadeh, H Topaloglu, L Merlini, et al.
Anales Espanoles De Pediatria
|
November 1, 1989
[Respiratory chain diseases in infancy. Clinical presentation and diagnosis]
M T García Silva, J P Bonnefont, A Rotig, et al.
American Journal of Human Genetics
|
October 3, 1998
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)
C Donger, E Krejci, A P Serradell, et al.
American Journal of Human Genetics
|
August 1, 1993
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin
K Matsumura, I Nonaka, F M Tomé, et al.
Revue Neurologique
|
March 6, 2003
[Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry]
P Laforêt, C Wary, S Duteil, et al.
The American Journal of Pathology
|
October 20, 1998
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
L V Anderson, K Davison, J A Moss, et al.
Nucleic Acids Research
|
October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome
I Nelson, F Degoul, B Obermaier-Kusser, et al.
American Journal of Human Genetics
|
May 1, 1995
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
N Dahl, L J Hu, M Chery, et al.
Circulation
|
September 1, 1996
Blunted coronary reserve in myotonic dystrophy. An early and gene-related phenomenon
D Annane, P Merlet, H Radvanyi, et al.
Revue Neurologique
|
March 5, 2013
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]
B Eymard, T Stojkovic, D Sternberg, et al.
Page
of 29