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Brain : a Journal of Neurology
|
November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Lein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Frontiers in Genetics
|
March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Marcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Neurology
|
June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
Human Mutation
|
December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Paola S Denora, David Schlesinger, Carlo Casali, et al.
Brain : a Journal of Neurology
|
November 5, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, et al.
Genome Medicine
|
February 26, 2026
A comprehensive framework for the interpretation of TTN missense variants
Maria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.
Brain : a Journal of Neurology
|
September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Jorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
September 9, 2020
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
Eleonora Mauri, Elena Abati, Olimpia Musumeci, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
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Search research articles
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Showing results (271-280 of 280) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 280 results.
Brain : a Journal of Neurology
|
November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Lein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Frontiers in Genetics
|
March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Marcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Neurology
|
June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
Human Mutation
|
December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Paola S Denora, David Schlesinger, Carlo Casali, et al.
Brain : a Journal of Neurology
|
November 5, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, et al.
Genome Medicine
|
February 26, 2026
A comprehensive framework for the interpretation of TTN missense variants
Maria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.
Brain : a Journal of Neurology
|
September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Jorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
September 9, 2020
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
Eleonora Mauri, Elena Abati, Olimpia Musumeci, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Page
of 28