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Orphanet Journal of Rare Diseases
|
November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Katherine Johnson, Ana Töpf, Marta Bertoli, et al.
Acta Neuropathologica
|
January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
Kristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.
BMJ Open
|
January 31, 2023
Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG
Sarah Dewilde, Glenn Philips, Sandra Paci, et al.
Journal of Neurology
|
February 28, 2024
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, et al.
The Journal of Antimicrobial Chemotherapy
|
March 8, 2007
National survey of molecular epidemiology of Staphylococcus aureus colonization in Belgian cystic fibrosis patients
A Vergison, O Denis, A Deplano, et al.
Journal of Neurology
|
March 21, 2016
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry
Judith Altmann, Boriana Büchner, Aleksandra Nadaj-Pakleza, et al.
Neuromuscular Disorders : NMD
|
April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.
Muscle & Nerve
|
May 9, 2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL
Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, et al.
Neuromuscular Disorders : NMD
|
June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
Olga Koop, Anja Schirmacher, Eva Nelis, et al.
Neuropathology and Applied Neurobiology
|
September 24, 2019
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease
M Kulessa, I Weyer-Menkhoff, L Viergutz, et al.
Page
of 24
Search research articles
Search
Showing results (181-190 of 239) with videos related to
Sort By:
Page
of 24
Orphanet Journal of Rare Diseases
|
November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Katherine Johnson, Ana Töpf, Marta Bertoli, et al.
Acta Neuropathologica
|
January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
Kristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.
BMJ Open
|
January 31, 2023
Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG
Sarah Dewilde, Glenn Philips, Sandra Paci, et al.
Journal of Neurology
|
February 28, 2024
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, et al.
The Journal of Antimicrobial Chemotherapy
|
March 8, 2007
National survey of molecular epidemiology of Staphylococcus aureus colonization in Belgian cystic fibrosis patients
A Vergison, O Denis, A Deplano, et al.
Journal of Neurology
|
March 21, 2016
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry
Judith Altmann, Boriana Büchner, Aleksandra Nadaj-Pakleza, et al.
Neuromuscular Disorders : NMD
|
April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.
Muscle & Nerve
|
May 9, 2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL
Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, et al.
Neuromuscular Disorders : NMD
|
June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
Olga Koop, Anja Schirmacher, Eva Nelis, et al.
Neuropathology and Applied Neurobiology
|
September 24, 2019
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease
M Kulessa, I Weyer-Menkhoff, L Viergutz, et al.
Page
of 24