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Human Molecular Genetics
|
November 1, 1995
A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient
G P Comi, E Ciafaloni, H A de Silva, et al.
Neurology
|
March 10, 2004
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
M Gironi, C Lamperti, R Nemni, et al.
Journal of the Neurological Sciences
|
September 23, 2008
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion
S Lucchiari, S Pagliarani, S Corti, et al.
Neurology
|
April 10, 2003
A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness
M Crimi, S Galbiati, M P Perini, et al.
Neurology
|
March 15, 2006
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
R Del Bo, F Locatelli, S Corti, et al.
Neurology
|
January 5, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
L Napoli, A Bordoni, M Zeviani, et al.
Neuromuscular Disorders : NMD
|
December 7, 2002
Two dystrophin proteins and transcripts in a mild dystrophinopathic patient
R Cagliani, A Bardoni, M Sironi, et al.
Journal of Neurology
|
June 1, 1997
An atypical case of partial merosin deficiency congenital muscular dystrophy
A Prelle, G P Comi, C Rigoletto, et al.
Neurology
|
April 26, 2001
Lack of apoptosis in mitochondrial encephalomyopathies
M Sciacco, G Fagiolari, C Lamperti, et al.
Clinical Neuropathology
|
February 13, 1999
Critically ill patients: immunological evidence of inflammation in muscle biopsy
P Bazzi, M Moggio, A Prelle, et al.
Page
of 13
Search research articles
Search
Showing results (81-90 of 121) with videos related to
Sort By:
Page
of 13
Human Molecular Genetics
|
November 1, 1995
A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient
G P Comi, E Ciafaloni, H A de Silva, et al.
Neurology
|
March 10, 2004
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
M Gironi, C Lamperti, R Nemni, et al.
Journal of the Neurological Sciences
|
September 23, 2008
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion
S Lucchiari, S Pagliarani, S Corti, et al.
Neurology
|
April 10, 2003
A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness
M Crimi, S Galbiati, M P Perini, et al.
Neurology
|
March 15, 2006
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
R Del Bo, F Locatelli, S Corti, et al.
Neurology
|
January 5, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
L Napoli, A Bordoni, M Zeviani, et al.
Neuromuscular Disorders : NMD
|
December 7, 2002
Two dystrophin proteins and transcripts in a mild dystrophinopathic patient
R Cagliani, A Bardoni, M Sironi, et al.
Journal of Neurology
|
June 1, 1997
An atypical case of partial merosin deficiency congenital muscular dystrophy
A Prelle, G P Comi, C Rigoletto, et al.
Neurology
|
April 26, 2001
Lack of apoptosis in mitochondrial encephalomyopathies
M Sciacco, G Fagiolari, C Lamperti, et al.
Clinical Neuropathology
|
February 13, 1999
Critically ill patients: immunological evidence of inflammation in muscle biopsy
P Bazzi, M Moggio, A Prelle, et al.
Page
of 13