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Orphanet Journal of Rare Diseases
|
November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Amel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases
|
June 14, 2012
The empowerment of translational research: lessons from laminopathies
Sara Benedetti, Pia Bernasconi, Enrico Bertini, et al.
Journal of Clinical Medicine
|
June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
Chiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
Orphanet Journal of Rare Diseases
|
February 14, 2024
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, 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.
Neurology
|
August 5, 2024
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
Sara Bortolani, Marco Savarese, Gaetano Vattemi, 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.
Frontiers in Neurology
|
December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore, Alessandra Tessa, Carlo Casali, 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.
Page
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Search research articles
Search
Showing results (211-220 of 223) with videos related to
Sort By:
Page
of 23
Orphanet Journal of Rare Diseases
|
November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Amel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases
|
June 14, 2012
The empowerment of translational research: lessons from laminopathies
Sara Benedetti, Pia Bernasconi, Enrico Bertini, et al.
Journal of Clinical Medicine
|
June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
Chiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
Orphanet Journal of Rare Diseases
|
February 14, 2024
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, 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.
Neurology
|
August 5, 2024
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
Sara Bortolani, Marco Savarese, Gaetano Vattemi, 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.
Frontiers in Neurology
|
December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore, Alessandra Tessa, Carlo Casali, 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.
Page
of 23