Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy-Reference-Cited by-同舟云学术

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Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy

Published:1995 Issue:S13 Volume:18 Page:S103-S109
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Lunt Peter W.,Jardine Philip E.,Koch Manuela,Maynard Julia,Osborn Micheal,Williams Margaret,Harper Peter S.,Upadhyaya Meena

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference23 articles.

1. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

2. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

3. De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

4. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length;2024-03-19

2. An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases;Biomolecules;2021-11-04

3. Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases;Frontiers in Physiology;2021-06-17

4. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis;Scientific Reports;2020-12

5. Therapeutic Strategies Targeting DUX4 in FSHD;Journal of Clinical Medicine;2020-09-07

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