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Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: Feb 02, 2023. (Total: 52432 Documents since 2012)
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Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat Salim et al. Nature communications 2023 14(1) 342
The Nuclear Envelope in Ageing and Progeria.
Fragoso-Luna Adrián et al. Sub-cellular biochemistry 2023 10253-75
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
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
Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.
Sung Wonjae et al. Brain communications 2022 4(6) fcac299
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
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
Mehta Puja R et al. Brain : a journal of neurology 2022
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
Translation of gene therapy strategies for amyotrophic lateral sclerosis.
Demarest Tyler G et al. Trends in molecular medicine 2022
Systematic evaluation of genetic mutations in ALS: a population-based study.
Grassano Maurizio et al. Journal of neurology, neurosurgery, and psychiatry 2022
Gene Therapy in Amyotrophic Lateral Sclerosis.
Fang Ton et al. Cells 2022 11(13)
Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Kirola Laxmi et al. Molecular neurobiology 2022
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
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis.
Nona R J et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2022 1-9
The expression discrepancy and characteristics of long non-coding RNAs in peripheral blood leukocytes from amyotrophic lateral sclerosis patients.
Yu Yujiao et al. Molecular neurobiology 2022
Predictive genetic testing for Motor neuron disease: time for a guideline?
A McNeil et al, EJHG, April 5, 2022
Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis.
Lu Ying-Qian et al. Frontiers in molecular neuroscience 2022 15691534
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.
Laaksovirta Hannu et al. Neurology. Genetics 2022 8(2) e665
Amyotrophic lateral sclerosis - insight into susceptibility.
Todd Tiffany W et al. Nature reviews. Neurology 2022
New antisense oligonucleotide therapies reach first base in ALS
A Lopez, Nature Medicine, January 24, 2022
Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.
Liu Chang-Yun et al. Journal of clinical neurology (Seoul, Korea) 2022 18(1) 41-47
Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first
A Crook et al, EJHG, January 5, 2022
Translating amyotrophic lateral sclerosis genes into drug development leads
S Sahdeo et al, Nature Genetics, December 10, 2021
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W van Rheenen et al, Nature Genetics, December 6, 2021
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley Jonathan et al. eLife 2021 10
Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices.
Salmon Kristiana et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 1-8
Contribution of rare variant associations to neurodegenerative disease presentation.
Dilliott Allison A et al. NPJ genomic medicine 2021 6(1) 80
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen Yong-Ping et al. Journal of medical genetics 2021
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