Amyotrophic lateral sclerosis
Last Posted: Sep 21, 2023
- Evidence-based consensus guidelines for ALS genetic testing and counseling.
Jennifer Roggenbuck et al. Ann Clin Transl Neurol 2023
- Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome
JP Ross et al, Genetics in Medicine, August 25, 2023
- At-home wearables and machine learning sensitively capture disease progression in amyotrophic lateral sclerosis
AS Gupta et al, Nature Comm. August 21, 2023
- PROSA-a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD.
Johannes Tröger et al. Amyotroph Lateral Scler Frontotemporal Degener 2023 1-10
- Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
Martin Paucar et al. J Neurol Sci 2023 451120707
- Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis.
Michael Wainberg et al. Alzheimers Res Ther 2023 15(1) 113
- Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Delia Gagliardi et al. Front Neurol 2023 141169689
- Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic.
Jakub Scaber et al. Eur J Neurol 2023
- Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations.
Maximilian Wiesenfarth et al. Brain communications 2023 5(2) fcad087
- Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Fulya Akçimen et al. Nature reviews. Genetics 2023 4
Neurological Disorders (ND) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to neurological disorders....more
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