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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Carlo Minetti

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Italian Journal of Pediatrics|November 17, 2017

Congenital myopathies: clinical phenotypes and new diagnostic toolsDenise Cassandrini, Rosanna Trovato, Anna Rubegni, et al.

Journal of Child Neurology|May 25, 2002

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.

Muscle & Nerve|September 25, 2003

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b geneClaudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.

Experimental & Molecular Medicine|January 30, 2004

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibitionCristina Capanni, Patrizia Sabatelli, Elisabetta Mattioli, et al.

Journal of Child Neurology|November 10, 2006

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.

JIMD Reports|March 2, 2017

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.

Journal of Neurology|April 12, 2006

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal featuresRoberta Biancheri, Federico Zara, Pasquale Striano, et al.

Pediatric Neurology|January 1, 2016

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.

The American Journal of Pathology|January 4, 2007

Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formationWilliam Schubert, Federica Sotgia, Alex W Cohen, et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology|April 1, 2009

Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disordersIsabelle Mercier, Jean-Francois Jasmin, Stephanos Pavlides, et al.

Pageof 19

Search research articles

Showing results (61-70 of 190) with videos related to

Sort By:

Pageof 19

Italian Journal of Pediatrics|November 17, 2017

Congenital myopathies: clinical phenotypes and new diagnostic toolsDenise Cassandrini, Rosanna Trovato, Anna Rubegni, et al.

Journal of Child Neurology|May 25, 2002

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.

Muscle & Nerve|September 25, 2003

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b geneClaudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.

Experimental & Molecular Medicine|January 30, 2004

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibitionCristina Capanni, Patrizia Sabatelli, Elisabetta Mattioli, et al.

Journal of Child Neurology|November 10, 2006

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.

JIMD Reports|March 2, 2017

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.

Journal of Neurology|April 12, 2006

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal featuresRoberta Biancheri, Federico Zara, Pasquale Striano, et al.

Pediatric Neurology|January 1, 2016

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.

The American Journal of Pathology|January 4, 2007

Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formationWilliam Schubert, Federica Sotgia, Alex W Cohen, et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology|April 1, 2009

Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disordersIsabelle Mercier, Jean-Francois Jasmin, Stephanos Pavlides, et al.

Pageof 19