Sage Journals: Discover world-class research

Retricted access

Other

First published 2011-6

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

Manuel Castro-Gago, Carmen Gómez-Lado, Laura Pérez-Gay [...]

Journal of Child Neurology

Free access

Case report

First published 2020

Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review

Tomoya Taminato, Madoka Mori-Yoshimura, Jun Miki [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025

CACNA1S -associated triadopathy presenting with myalgia,muscle weakness,and asymptomatic hyperCKemia

Si Luo, Min Zhu, Dandan Tan [...]

Therapeutic Advances in Neurological Disorders

Retricted access

Research article

First published 1987-10

Zebra Body Myopathy: A Second Case of Ultrastructurally Distinct Congenital Myopathy

Marc G. Reyes, Hilda Goldbarg, Kimi Fresco [...]

Journal of Child Neurology

Retricted access

Other

First published 2007-04

X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation

Tibor Hortobágyi, Hajnalka Szabó, Krisztián S. Kovács [...]

Journal of Child Neurology

Open access

Review article

First published 2017

Sarcomere Dysfunction in Nemaline Myopathy

Josine M. de Winter, Coen A.C. Ottenheijm

Journal of Neuromuscular Diseases

Free access

Research article

First published 2000-2

Congenital Myasthenic Syndrome: A Rare,Potentially Treatable Cause of Respiratory Failure in a “Floppy” Infant

P. P. McConkey, A. J. Mullens

Anaesthesia and Intensive Care

Retricted access

Review article

First published 2015-4

Nemaline Myopathy Type 2 (NEM2)

Anna Gajda, Emese Horváth, Tibor Hortobágyi [...]

Journal of Child Neurology

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 2013-1

Peripheral Nerve Involvement in Fukuyama Congenital Muscular Dystrophy

Dae-Hyun Jang, In Young Sung, Tae Sung Ko

Journal of Child Neurology

Search results