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First published 2008-02

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Angela M. Kaindl, Ulf-Peter Guenther, Sabine Rudnik-Schöneborn [...]

Journal of Child Neurology

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Case report

First published 2019-9

Occupation-based hand therapy in a baker with monomelic amyotrophy (distal segmental spinal muscular atrophy or Hirayama disease)

Elien Nijland

Hand Therapy

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Research article

First published 2017-3

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development

Yulin Chen, Yufei Xu, Guoqiang Li [...]

Journal of Child Neurology

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Research article

First published 1992-10

Predictive Value of Electromyography in Diagnosis and Prognosis of the Hypotonic Infant

James W. Russell, Adel K. Afifi, Mark A. Ross

Journal of Child Neurology

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Research article

First published 2014-8

Variations of IGHMBP2 Gene Was Not the Major Cause of Han Chinese Patients With Non-5q-Spinal Muscular Atrophies

Xiang Lin, Qi-Jie Zhang, Jin He [...]

Journal of Child Neurology

Free access

Research article

First published 2008-5

Cerebral palsy masking spinal muscular atrophy

María A. Ocasio-Silva, Alan McBride, Elizabeth Moberg-Wolff

Journal of Pediatric Rehabilitation Medicine

Free access

Case report

First published 2022-03-01

Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report

Danique Beijer, Kiran Polavarapu, Veeramani Preethish-Kumar [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-11

DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy

Byeonghyeon Lee, Seong Tae Cho, Ryul Kim [...]

Journal of Neuromuscular Diseases

Free access

Brief report

First published 2020

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

Marc-Olivier Deguise, Ariane Beauvais, Bernard L. Schneider [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024

Pattern of pareses in 5q-spinal muscular atrophy

Zeljko Uzelac, Beate Schwäble, Johannes Dorst [...]

Therapeutic Advances in Neurological Disorders

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