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C Angelini

Showing results (241-250 of 531) with videos related to

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Human Mutation|January 1, 1997
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysisF A Saad, M L Mostacciuolo, C P Trevisan, et al.
European Journal of Neurology|June 11, 2011
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated alleleM Meznaric, L Gonzalez-Quereda, E Gallardo, et al.
Neuro-Degenerative Diseases|June 11, 2011
Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosisV Orsetti, E Pegoraro, V Cima, et al.
Neurology|June 8, 2011
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansionG Sorarù, M Clementi, M Forzan, et al.
Journal of the Neurological Sciences|December 1, 1990
Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trialN Bresolin, C Doriguzzi, C Ponzetto, et al.
Journal of the Neurological Sciences|December 1, 1992
Correlation between clinical and molecular features in two MELAS familiesA Martinuzzi, L Bartolomei, R Carrozzo, et al.
Journal of Neurology|May 20, 1998
Radiological evidence of subclinical dysphagia in motor neuron diseaseC Briani, M Marcon, M Ermani, et al.
Journal of Medical Genetics|July 10, 2008
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsA Botta, F Rinaldi, C Catalli, et al.
Neurology|September 29, 2004
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophyP Prandini, A Berardinelli, M Fanin, et al.
Journal of Neurology|June 1, 1995
Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in spermA Massari, M Gennarelli, E Menegazzo, et al.
Pageof 54

Showing results (241-250 of 531) with videos related to

Sort By:
Pageof 54
Human Mutation|January 1, 1997
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysisF A Saad, M L Mostacciuolo, C P Trevisan, et al.
European Journal of Neurology|June 11, 2011
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated alleleM Meznaric, L Gonzalez-Quereda, E Gallardo, et al.
Neuro-Degenerative Diseases|June 11, 2011
Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosisV Orsetti, E Pegoraro, V Cima, et al.
Neurology|June 8, 2011
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansionG Sorarù, M Clementi, M Forzan, et al.
Journal of the Neurological Sciences|December 1, 1990
Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trialN Bresolin, C Doriguzzi, C Ponzetto, et al.
Journal of the Neurological Sciences|December 1, 1992
Correlation between clinical and molecular features in two MELAS familiesA Martinuzzi, L Bartolomei, R Carrozzo, et al.
Journal of Neurology|May 20, 1998
Radiological evidence of subclinical dysphagia in motor neuron diseaseC Briani, M Marcon, M Ermani, et al.
Journal of Medical Genetics|July 10, 2008
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsA Botta, F Rinaldi, C Catalli, et al.
Neurology|September 29, 2004
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophyP Prandini, A Berardinelli, M Fanin, et al.
Journal of Neurology|June 1, 1995
Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in spermA Massari, M Gennarelli, E Menegazzo, et al.
Pageof 54