Sage Journals: Discover world-class research

Retricted access

Research article

First published 2014-2

Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease

Madalina Raducu, Rocío P. Cotarelo, Rogelio Simón [...]

Journal of Child Neurology

Retricted access

Case report

First published 2026-1

Spontaneous retinal reattachment and novel vitreoretinal phenotype in muscle eye brain disease determined by fundus multimodal imaging

Evita Evangelia Christou, Ravi Purohit, Alice Di Domenico [...]

European Journal of Ophthalmology

Retricted access

Research article

First published 2002

Clinical,Genetic and Histopathologic Findings in Two Siblings with Muscle-Eye-Brain Disease

A. Zervos, K.E. Hunt, H.-Q. Tong [...]

European Journal of Ophthalmology

Retricted access

Other

First published 1998-06

Congenital Muscular Dystrophy With Complete Laminin-α2-Deficiency,Cortical Dysplasia,and Cerebral White-Matter Changes in Children

Chang-Yong Tsao, Jerry R. Mendell, Jerome Rusin [...]

Journal of Child Neurology

Retricted access

Other

First published 1999-11

Broader Clinical Spectrum of Fukuyama-Type Congenital Muscular Dystrophy Manifested by Haplotype Analysis

Mieko Yoshioka, Tatsushi Toda, Shigekazu Kuroki [...]

Journal of Child Neurology

Retricted access

Research article

First published 2014-3

Elevated Serum Creatine Kinase and Small Cerebellum Prompt Diagnosis of Congenital Muscular Dystrophy due to FKRP Mutations

Rosanna Trovato, Guja Astrea, Laura Bartalena [...]

Journal of Child Neurology

Free access

Case report

First published 2020

Muscular,Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy

Rocío N. Villar-Quiles, Marta Gomez-Garcia de la Banda, Annie Barois [...]

Journal of Neuromuscular Diseases

Retricted access

Case report

First published 2015-8

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan

Alexandra Drought, Ruwan Wimalasundera, Susan Holder

Ultrasound

Retricted access

Announcement

First published 2006

High Myopia and Congenital Myopathy with Partial Pachygyria in Cutis Laxa Syndrome

E. Morava, M.A. Willemsen, S. Wopereis [...]

European Journal of Ophthalmology

Retricted access

Research article

First published 1995-11

Otorhinolaryngological Complications of Progressive Facial Hemiatrophy (Romberg's Disease)

Christoph Matthias, Klaus Terstegge, Hartmut Siemes

Annals of Otology,Rhinology & Laryngology

Search results