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Journal of Neurology
|
August 16, 2025
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
Priya S Kishnani, Jordi Díaz-Manera, Sergey Illarioshkin, et al.
Orphanet Journal of Rare Diseases
|
July 24, 2023
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Walaa Karazi, Renata S Scalco, Mads G Stemmerik, et al.
Neuromuscular Disorders : NMD
|
June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Marco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
Neurology
|
May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology
|
December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
European Journal of Neurology
|
June 14, 2024
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, et al.
Advances in Therapy
|
March 18, 2019
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group
Massimiliano Filosto, Stefano Cotti Piccinelli, Sabrina Ravaglia, et al.
Current Issues in Molecular Biology
|
May 15, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, et al.
Muscle & Nerve
|
May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Francesca Magri, Vincenzo Nigro, Corrado Angelini, et al.
Stroke (Hoboken, N.J.)
|
March 12, 2026
Head Down Tilt 15° to Increase Collateral Flow in Acute Ischemic Stroke: Rationale and Study Protocol of a Multicenter, Randomized, Proof-of-Concept, Phase 2a/b Trial in Patients Treated With Mechanical Thrombectomy (DOWN-SUITE)
Francesco Andrea Pedrazzini, Lorenzo Piergallini, Susanna Diamanti, et al.
Page
of 23
Search research articles
Search
Showing results (191-200 of 223) with videos related to
Sort By:
Page
of 23
Journal of Neurology
|
August 16, 2025
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
Priya S Kishnani, Jordi Díaz-Manera, Sergey Illarioshkin, et al.
Orphanet Journal of Rare Diseases
|
July 24, 2023
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Walaa Karazi, Renata S Scalco, Mads G Stemmerik, et al.
Neuromuscular Disorders : NMD
|
June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Marco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
Neurology
|
May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology
|
December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
European Journal of Neurology
|
June 14, 2024
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, et al.
Advances in Therapy
|
March 18, 2019
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group
Massimiliano Filosto, Stefano Cotti Piccinelli, Sabrina Ravaglia, et al.
Current Issues in Molecular Biology
|
May 15, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, et al.
Muscle & Nerve
|
May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Francesca Magri, Vincenzo Nigro, Corrado Angelini, et al.
Stroke (Hoboken, N.J.)
|
March 12, 2026
Head Down Tilt 15° to Increase Collateral Flow in Acute Ischemic Stroke: Rationale and Study Protocol of a Multicenter, Randomized, Proof-of-Concept, Phase 2a/b Trial in Patients Treated With Mechanical Thrombectomy (DOWN-SUITE)
Francesco Andrea Pedrazzini, Lorenzo Piergallini, Susanna Diamanti, et al.
Page
of 23