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
- 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
- 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
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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
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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