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European Journal of Neurology
|
March 7, 2023
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function
Marika Pane, Giorgia Coratti, Valeria A Sansone, et al.
Orphanet Journal of Rare Diseases
|
July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.
Biomolecules
|
October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Fernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
Journal of Neuromuscular Diseases
|
February 16, 2024
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
Luca Bello, Daniele Sabbatini, Aurora Fusto, et al.
Annals of Clinical and Translational Neurology
|
April 29, 2020
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Luca Bello, Grazia D'Angelo, Matteo Villa, et al.
Neuromuscular Disorders : NMD
|
January 21, 2014
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
Marika Pane, Elena S Mazzone, Lavinia Fanelli, et al.
Drugs in R&D
|
May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy
Luca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Plos Currents
|
February 3, 2015
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys
Marika Pane, Elena Stacy Mazzone, Serena Sivo, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
February 16, 2023
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report
Fabrizio Racca, Valeria A Sansone, Federica Ricci, 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.
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Search research articles
Search
Showing results (61-70 of 71) with videos related to
Sort By:
Page
of 8
European Journal of Neurology
|
March 7, 2023
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function
Marika Pane, Giorgia Coratti, Valeria A Sansone, et al.
Orphanet Journal of Rare Diseases
|
July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.
Biomolecules
|
October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Fernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
Journal of Neuromuscular Diseases
|
February 16, 2024
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
Luca Bello, Daniele Sabbatini, Aurora Fusto, et al.
Annals of Clinical and Translational Neurology
|
April 29, 2020
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Luca Bello, Grazia D'Angelo, Matteo Villa, et al.
Neuromuscular Disorders : NMD
|
January 21, 2014
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
Marika Pane, Elena S Mazzone, Lavinia Fanelli, et al.
Drugs in R&D
|
May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy
Luca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Plos Currents
|
February 3, 2015
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys
Marika Pane, Elena Stacy Mazzone, Serena Sivo, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
February 16, 2023
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report
Fabrizio Racca, Valeria A Sansone, Federica Ricci, 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.
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of 8