Sage Journals: Discover world-class research

Retricted access

Research article

First published 2022-1

Inferior oblique recession associated to partial temporal inferior rectus recession in unilateral congenital superior oblique palsy

Barbara Burgos-Blasco, Elena Hernandez-Garcia, Carlos Llorente-La-Orden [...]

European Journal of Ophthalmology

Retricted access

Other

First published 2005-04

Long-Term Prognosis of Epilepsies and Related Seizure Disorders in Fukuyama-Type Congenital Muscular Dystrophy

Mieko Yoshioka, Yoshihisa Higuchi

Journal of Child Neurology

Retricted access

Other

First published 2004-03

Long-Term Prognosis of Epilepsies and Related Seizure Disorders in Fukuyama-Type Congenital Muscular Dystrophy

Mieko Yoshioka, Yoshihisa Higuchi

Journal of Child Neurology

Free access

Review article

First published

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Pascale Richard, Capucine Trollet, Teresa Gidaro [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2025

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants

Azita Tavasoli, Shayan Eghdami, Maryam Kachuei [...]

Sage Open Medical Case Reports

Open access

Review article

First published 2025

Tofersen and other antisense oligonucleotides in ALS

Albert Ludolph, Maximilian Wiesenfarth

Therapeutic Advances in Neurological Disorders

Free access

Other

First published 2009-05

Progress in enzyme replacement therapy in glycogen storage disease type II

Corrado Angelini, Claudio Semplicini, Paola Tonin [...]

Therapeutic Advances in Neurological Disorders

Retricted access

Research article

First published 2011-09

Accuracy of Marker Analysis,Quantitative Real-Time Polymerase Chain Reaction,and Multiple Ligation-Dependent Probe Amplification to Determine SMN2 Copy Number in Patients with Spinal Muscular Atrophy

Laura Alías, Sara Bernal, Maria J. Barceló [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2023-05-02

Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases

Nicole J. Lake, Joel Phua, Wei Liu [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2017

Analysis of Azithromycin Monohydrate as a Single or a Combinatorial Therapy in a Mouse Model of Severe Spinal Muscular Atrophy

Erkan Y. Osman, Charles W. Washington, Madeline E. Simon [...]

Journal of Neuromuscular Diseases

Search results