Facioscapulohumeral Muscular Dystrophy
Last Posted: Jul 28, 2020
- Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy.
Hamel Johanna et al. Neurologic clinics 2020 38(3) 529-540
- The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
Himeda Charis L et al. Annual review of genomics and human genetics 2019 20265-291
- Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments
K Nguyen, JAMA Network Open, May 1, 2020
- [Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation].
Tian Yang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 2 (2) 150-152
- Living with Muscular Dystrophy
- The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
Guien Céline et al. Orphanet journal of rare diseases 2018 13(1) 218
- Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti Stefania et al. Neurogenetics 2019 Mar
- Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.
Mul Karlien, et al. Clinical genetics 2018 9
- Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Tawil Rabi et al. Neurology 2015 Jul 28. 85(4) 357-64
- New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.
Lin Feng, et al. Chinese medical journal 2015 7 (13) 1707-13
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
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