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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 02, 2024
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Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study.
Jade Howard et al. Health Expect 2024 27(2) e14024
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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
Connolly G Steigerwald et al. J Genet Couns 2024
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The implications of DNA methylation for amyotrophic lateral sclerosis.
Adriana Helena DE Oliveira Reis et al. An Acad Bras Cienc 2023 95(suppl 2) e20230277
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Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.
Chelsea Chambers et al. Neurol Clin Pract 2023 13(5) e200201
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Evidence-based consensus guidelines for ALS genetic testing and counseling.
Jennifer Roggenbuck et al. Ann Clin Transl Neurol 2023
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Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome
JP Ross et al, Genetics in Medicine, August 25, 2023
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Thomas P Spargo et al. Amyotroph Lateral Scler Frontotemporal Degener 2023 1-10
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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
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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
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Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Delia Gagliardi et al. Front Neurol 2023 141169689
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Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic.
Jakub Scaber et al. Eur J Neurol 2023
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Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations.
Maximilian Wiesenfarth et al. Brain communications 2023 5(2) fcad087
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Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Fulya Akçimen et al. Nature reviews. Genetics 2023
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Clinical testing panels for ALS: global distribution, consistency, and challenges.
Allison A Dilliott et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-16
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Harnessing Transcriptomic Signals for Amyotrophic Lateral Sclerosis to Identify Novel Drugs and Enhance Risk Prediction.
Oliver Pain et al. medRxiv : the preprint server for health sciences 2023
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Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat Salim et al. Nature communications 2023 14(1) 342
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The Nuclear Envelope in Ageing and Progeria.
Fragoso-Luna Adrián et al. Sub-cellular biochemistry 2023 10253-75
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Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4
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Calculating variant penetrance from family history of disease and average family size in population-scale data.
Spargo Thomas P et al. Genome medicine 2022 14(1) 141
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Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.
Sung Wonjae et al. Brain communications 2022 4(6) fcac299
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A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning.
De Oliveira Hugo M et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2022 1-9
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Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022
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The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
Mehta Puja R et al. Brain : a journal of neurology 2022
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ALS therapy hits molecular mark but misses clinical one
K O'Leary, Nature Medicine, October 3, 2022
Biomarker data prove critical for ALS drug evaluation at FDA.
Carvalho Thiago et al. Nature medicine 2022
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Translation of gene therapy strategies for amyotrophic lateral sclerosis.
Demarest Tyler G et al. Trends in molecular medicine 2022
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Systematic evaluation of genetic mutations in ALS: a population-based study.
Grassano Maurizio et al. Journal of neurology, neurosurgery, and psychiatry 2022
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Gene Therapy in Amyotrophic Lateral Sclerosis.
Fang Ton et al. Cells 2022 11(13)
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Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Kirola Laxmi et al. Molecular neurobiology 2022
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Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.
Crook Ashley et al. Journal of genetic counseling 2022
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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