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Marina Mora

Showing results (111-120 of 122) with videos related to

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Elife|September 20, 2021
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samplesEmanuela Abiusi, Paola Infante, Cinzia Cagnoli, et al.
Journal of Clinical Lipidology|February 13, 2026
Heterogeneous nature of severe hypertriglyceridemia in childhoodMaría José Ariza, José Rioja, Verónica Adriana Seidel, 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.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, 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.
European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.
Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.
JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Pageof 13

Showing results (111-120 of 122) with videos related to

Sort By:
Pageof 13
Elife|September 20, 2021
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samplesEmanuela Abiusi, Paola Infante, Cinzia Cagnoli, et al.
Journal of Clinical Lipidology|February 13, 2026
Heterogeneous nature of severe hypertriglyceridemia in childhoodMaría José Ariza, José Rioja, Verónica Adriana Seidel, 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.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, 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.
European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.
Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.
JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Pageof 13