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References from Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. Local targets link to admitted publications; unresolved targets remain external evidence.
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci
10.1016/j.jns.2018.04.031 · 2018 · External reference
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis
10.1093/hmg/dds064 · 2012 · External reference
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers
10.1016/j.neurobiolaging.2014.04.016 · 2014 · External reference
10.1080/146608200300079536
10.1080/146608200300079536 · External reference
Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis
2011 · External reference
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans
10.1038/s41467-017-00663-9 · 2017 · External reference
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
10.1212/wnl.0b013e318278b618 · 2012 · External reference
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
10.1016/j.neuron.2011.09.011 · 2011 · External reference
Detection of long repeat expansions from PCR-free whole-genome sequence data
10.1101/gr.225672.117 · 2017 · External reference
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
10.1038/nature09320 · 2010 · External reference
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
10.1093/brain/aws069 · 2012 · External reference
A global reference for human genetic variation
10.1038/nature15393 · 2015 · External reference
Incidence of motor neuron disease/amyotrophic lateral sclerosis in South Africa: a 4‐year prospective study
10.1111/ene.14499 · 2020 · External reference
Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis?
10.1016/j.molmed.2013.09.001 · 2014 · External reference
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
10.1016/j.ajhg.2011.05.015 · 2011 · External reference
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles
10.1038/ejhg.2011.154 · 2012 · External reference
Neurodegeneration: an expansion in ALS genetics
10.1038/4661052a · 2010 · External reference
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis
10.1016/j.neurobiolaging.2017.11.011 · 2018 · External reference
Spinocerebellar ataxia type 36 in the Han Chinese
10.1212/nxg.0000000000000068 · 2016 · External reference
The epidemiology and genetics of amyotrophic lateral sclerosis in China
10.1016/j.brainres.2018.02.035 · 2018 · External reference
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
10.1038/nature18964 · 2016 · External reference
C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis
10.1016/j.jns.2019.04.026 · 2019 · External reference
Using whole genome sequencing in an African subphenotype of myasthenia gravis to generate a pathogenetic hypothesis
10.3389/fgene.2019.00136 · 2019 · External reference
Motor neuron disease in 2012: novel causal genes and disease modifiers
10.1038/nrneurol.2012.276 · 2013 · External reference
A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD
10.1016/j.neuron.2011.09.010 · 2011 · External reference
Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations
10.1136/jnnp-2018-319838 · 2019 · External reference
Inherited polyglutamine spinocerebellar ataxias in South Africa
10.7196/samj.5521 · 2012 · External reference
Decoding ALS: from genes to mechanism
10.1038/nature20413 · 2016 · External reference
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
10.1093/braincomms/fcaa064 · 2020 · External reference
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
10.1016/j.neurobiolaging.2018.09.012 · 2019 · External reference
ALS is a multistep process in South Korean, Japanese, and Australian patients
10.1212/wnl.0000000000009015 · 2020 · External reference
Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS–A systematic review and meta-analysis of observational studies
2014 · External reference
Genome-wide analysis of the Southern African Coloured population in the Western Cape
10.1007/s00439-010-0836-1 · 2010 · External reference
TDP-43 levels in the brain tissue of ALS cases with and without C9ORF72 or ATXN2 gene expansions
10.1212/wnl.0000000000008439 · 2019 · External reference