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Neurologia (Barcelona, Spain)
|
May 20, 2004
[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]
A Pou Serradell, J Lloreta Trull, J M Corominas Torres, et al.
Brain : a Journal of Neurology
|
September 30, 2006
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
J Jarry, M F Rioux, V Bolduc, et al.
Neurology
|
August 26, 2009
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
S C Blumen, J-P Bouchard, B Brais, et al.
Brain : a Journal of Neurology
|
June 9, 2006
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21
M Tétreault, A Duquette, I Thiffault, et al.
Genomics
|
October 23, 1998
Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13
Y G Xie, D Rochefort, B Brais, et al.
Human Molecular Genetics
|
March 1, 1995
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
B Brais, Y G Xie, M Sanson, et al.
Neuropathology and Applied Neurobiology
|
May 11, 2017
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy
A Vihola, H Luque, M Savarese, et al.
American Journal of Human Genetics
|
December 5, 1998
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31
H Feit, A Silbergleit, L B Schneider, et al.
Neurologia
|
April 27, 2026
Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion
E Muñoz, M De la Cruz-Puebla, D Pellerin, et al.
Annals of Neurology
|
July 13, 1999
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
S C Blumen, B Brais, A D Korczyn, et al.
Page
of 4
Search research articles
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Showing results (21-30 of 38) with videos related to
Sort By:
Page
of 4
Neurologia (Barcelona, Spain)
|
May 20, 2004
[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]
A Pou Serradell, J Lloreta Trull, J M Corominas Torres, et al.
Brain : a Journal of Neurology
|
September 30, 2006
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
J Jarry, M F Rioux, V Bolduc, et al.
Neurology
|
August 26, 2009
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
S C Blumen, J-P Bouchard, B Brais, et al.
Brain : a Journal of Neurology
|
June 9, 2006
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21
M Tétreault, A Duquette, I Thiffault, et al.
Genomics
|
October 23, 1998
Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13
Y G Xie, D Rochefort, B Brais, et al.
Human Molecular Genetics
|
March 1, 1995
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
B Brais, Y G Xie, M Sanson, et al.
Neuropathology and Applied Neurobiology
|
May 11, 2017
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy
A Vihola, H Luque, M Savarese, et al.
American Journal of Human Genetics
|
December 5, 1998
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31
H Feit, A Silbergleit, L B Schneider, et al.
Neurologia
|
April 27, 2026
Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion
E Muñoz, M De la Cruz-Puebla, D Pellerin, et al.
Annals of Neurology
|
July 13, 1999
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
S C Blumen, B Brais, A D Korczyn, et al.
Page
of 4