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Retricted access

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

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Research article

First published 2014-6

One Novel and One Recurrent Mutation in IGHMBP2 Gene,Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth

Ivan Litvinenko, Andrey Ventsislavov Kirov, Ralitsa Georgieva [...]

Journal of Child Neurology

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Other

First published 2010-6

Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1: A Case Report

Abdulaziz AlSaman, Hoda Tomoum

Journal of Child Neurology

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Other

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 2013-6

Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy

Cyril Gitiaux, Jean Bergounioux, Maryse Magen [...]

Journal of Child Neurology

Open access

Research article

First published 2025-1

Genetic landscape of Charcot–Marie–Tooth disease in Vietnam: A prospective multicenter study

Hoang Tien Trong Nghia, Thirugnanam Umapathi, Nguyen Minh Duc [...]

Journal of Neuromuscular Diseases

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Research article

First published 2008-03

Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel

Lina Basel-Vanagaite, Ellen Taub, Valerie Drasinover [...]

Genetic Testing and Molecular Biomarkers

Search results

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

One Novel and One Recurrent Mutation in IGHMBP2 Gene,Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth

Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1: A Case Report

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy

Genetic landscape of Charcot–Marie–Tooth disease in Vietnam: A prospective multicenter study

Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel