Amyotrophic Lateral Sclerosis
Last Posted: Oct 21, 2019
- NIH's All of Us Partners with HudsonAlpha on Long-Read Sequencing Project
Clinical Omics, October 18, 2019
- Characterization of Parkinson's disease using blood-based biomarkers: A multicohort proteomic analysis.
Posavi Marijan et al. PLoS medicine 2019 Oct 16(10) e1002931
- The ALS Registry: Hope for Patients, Resources for Research
- Insights into Amyotrophic Lateral Sclerosis from a Machine Learning Perspective.
Gordon Jonathan et al. Journal of clinical medicine 2019 Oct 8(10)
- Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.
Goldman Jill S et al. Cold Spring Harbor perspectives in medicine 2019 Sep
- [Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital].
Tanaka Keiko et al. Rinsho shinkeigaku = Clinical neurology 2013 53(3) 196-204
- ALS gene may be a hitchhiker?s guide to the neuron
NIH, September 19, 2019
- Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation
JO Johnson et al, BioRXIV, September 19, 2019
- Genetic testing in fetuses with isolated agenesis of the corpus callosum.
She Qin et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Aug 1-201
- Update on amyotrophic lateral sclerosis genetics.
Brenner David et al. Current opinion in neurology 2019 Jul
- Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis.
Ryan Marie et al. JAMA neurology 2019 Jul
- The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.
van der Spek Rick A A et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Aug 20(5-6) 432-440
- Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Kim Hyerim, et al. Human molecular genetics 2019 0 0. (14) 2309-2318
- Adjusted Cost Analysis of Video Televisits for the Care of People with ALS.
Paganoni Sabrina et al. Muscle & nerve 2019 May
- Nutritional counseling with or without mobile health technology: a randomized open-label standard-of-care-controlled trial in ALS.
Wills Anne Marie et al. BMC neurology 2019 May 19(1) 104
- CDC Information (13)
- NIH Information (14)
- CDC Publications (5)
- Human Genome Epidemiologic Studies (648)
- GWAS Studies (23)
- Human Genomics Translation/Implementation Studies (36)
- Genomic Tests Evidence Synthesis (4)
- Genomic Tests Guidelines (1)
- Non-Genomics Precision Health (5)
- Pathogen Advanced Molecular Detection (3)
- Reviews/Commentaries (53)
- Tools/Methods (1)
- Ethical/Legal and Social Issues (ELSI) (1)
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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