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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

EDUCATION

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Marina Fanin

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Plos One|May 14, 2013

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FAnnalaura Torella, Marina Fanin, Margherita Mutarelli, et al.

Human Mutation|January 29, 2003

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiencyZivana Tezak, Paola Prandini, Marco Boscaro, et al.

Neuromuscular Disorders : NMD|June 9, 2018

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.

Genes|October 31, 2018

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.

Orphanet Journal of Rare Diseases|September 28, 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.

Neurology|June 10, 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.

Pageof 6

Search research articles

Showing results (51-60 of 56) with videos related to

Sort By:

Pageof 6

You have reached the last page of results.This site can display upto 56 results.

Plos One|May 14, 2013

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FAnnalaura Torella, Marina Fanin, Margherita Mutarelli, et al.

Human Mutation|January 29, 2003

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiencyZivana Tezak, Paola Prandini, Marco Boscaro, et al.

Neuromuscular Disorders : NMD|June 9, 2018

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.

Genes|October 31, 2018

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.

Orphanet Journal of Rare Diseases|September 28, 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.

Neurology|June 10, 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.

Pageof 6