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C Minetti

Showing results (81-90 of 114) with videos related to

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Scandinavian Journal of Rheumatology|January 19, 2017
Inflammatory myopathy in a patient with collagen VI mutationsR Papa, C Fiorillo, C Malattia, et al.
Neurology|April 1, 1994
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorderM Hirano, G Silvestri, D M Blake, et al.
Neurogenetics|September 20, 2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla diseaseR Biancheri, A Rossi, H A Verbeek, et al.
American Journal of Human Genetics|December 5, 1998
Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophyJ A Engelman, X Zhang, F Galbiati, et al.
Biochemical and Biophysical Research Communications|August 12, 1999
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophyS Repetto, M Bado, P Broda, et al.
Neurology|October 13, 2006
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancyF Madia, P Striano, E Gennaro, et al.
Neuromuscular Disorders : NMD|November 2, 1999
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathyC Bruno, M DiRocco, L D Lamba, et al.
Neurology|April 4, 2000
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemiaI Carbone, C Bruno, F Sotgia, et al.
The Journal of Biological Chemistry|September 16, 2000
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family membersF Sotgia, J K Lee, K Das, et al.
Clinical Genetics|September 15, 2011
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiencyM Fanin, A Anichini, D Cassandrini, et al.
Pageof 12

Showing results (81-90 of 114) with videos related to

Sort By:
Pageof 12
Scandinavian Journal of Rheumatology|January 19, 2017
Inflammatory myopathy in a patient with collagen VI mutationsR Papa, C Fiorillo, C Malattia, et al.
Neurology|April 1, 1994
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorderM Hirano, G Silvestri, D M Blake, et al.
Neurogenetics|September 20, 2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla diseaseR Biancheri, A Rossi, H A Verbeek, et al.
American Journal of Human Genetics|December 5, 1998
Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophyJ A Engelman, X Zhang, F Galbiati, et al.
Biochemical and Biophysical Research Communications|August 12, 1999
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophyS Repetto, M Bado, P Broda, et al.
Neurology|October 13, 2006
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancyF Madia, P Striano, E Gennaro, et al.
Neuromuscular Disorders : NMD|November 2, 1999
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathyC Bruno, M DiRocco, L D Lamba, et al.
Neurology|April 4, 2000
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemiaI Carbone, C Bruno, F Sotgia, et al.
The Journal of Biological Chemistry|September 16, 2000
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family membersF Sotgia, J K Lee, K Das, et al.
Clinical Genetics|September 15, 2011
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiencyM Fanin, A Anichini, D Cassandrini, et al.
Pageof 12