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Marina Fanin

Showing results (41-50 of 56) with videos related to

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Neuromuscular Disorders : NMD|January 17, 2012
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromesGiulia Ricci, Isabella Scionti, Greta Alì, et al.
Muscle & Nerve|August 6, 2014
Dominant muscular dystrophy with a novel SYNE1 gene mutationMarina Fanin, Marco Savarese, Anna C Nascimbeni, et al.
The Journal of Pathology|March 21, 2012
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscleLuisa Piva, Bruno F Gavassini, Luca Bello, et al.
Journal of Inherited Metabolic Disease|September 11, 2010
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case reportMonica Del Rizzo, Marina Fanin, Alessia Cerutti, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
Neuromuscular Disorders : NMD|September 13, 2016
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcriptAlice Todeschini, Francesca Gualandi, Cecilia Trabanelli, et al.
Genomics|November 1, 2002
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin geneLuisa Toffolatti, Barbara Cardazzo, Carlo Nobile, et al.
The American Journal of Pathology|June 12, 2002
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiologyElena Pegoraro, Fulvio Cepollaro, Paola Prandini, et al.
Human Molecular Genetics|December 10, 2002
Gene expression profiling in dysferlinopathies using a dedicated muscle microarrayStefano Campanaro, Chiara Romualdi, Marina Fanin, et al.
Annals of Neurology|April 1, 2003
Phenotype modulators in myophosphorylase deficiencyAndrea Martinuzzi, Elena Sartori, Marina Fanin, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Neuromuscular Disorders : NMD|January 17, 2012
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromesGiulia Ricci, Isabella Scionti, Greta Alì, et al.
Muscle & Nerve|August 6, 2014
Dominant muscular dystrophy with a novel SYNE1 gene mutationMarina Fanin, Marco Savarese, Anna C Nascimbeni, et al.
The Journal of Pathology|March 21, 2012
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscleLuisa Piva, Bruno F Gavassini, Luca Bello, et al.
Journal of Inherited Metabolic Disease|September 11, 2010
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case reportMonica Del Rizzo, Marina Fanin, Alessia Cerutti, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
Neuromuscular Disorders : NMD|September 13, 2016
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcriptAlice Todeschini, Francesca Gualandi, Cecilia Trabanelli, et al.
Genomics|November 1, 2002
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin geneLuisa Toffolatti, Barbara Cardazzo, Carlo Nobile, et al.
The American Journal of Pathology|June 12, 2002
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiologyElena Pegoraro, Fulvio Cepollaro, Paola Prandini, et al.
Human Molecular Genetics|December 10, 2002
Gene expression profiling in dysferlinopathies using a dedicated muscle microarrayStefano Campanaro, Chiara Romualdi, Marina Fanin, et al.
Annals of Neurology|April 1, 2003
Phenotype modulators in myophosphorylase deficiencyAndrea Martinuzzi, Elena Sartori, Marina Fanin, et al.
Pageof 6