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Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 3, pp. 247 - 248
Journal Article
Neurobiology of disease, ISSN 0969-9961, 09/2019, Volume 132, p. 104606
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2019, Volume 27, Issue 1, pp. 20 - 21
Journal Article
Medical Journal of Australia, ISSN 0025-729X, 09/2019
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 06/2018, Volume 90, Issue 24, pp. 1087 - 1088
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 669 - 670
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 3, pp. 247 - 248
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
A small heterozygous deletion involving KANK1 was originally reported in 2005 to cause cerebral palsy in one large Israeli family of Jewish Moroccan origin.... 
Cerebral palsy | KANK1 | Intellectual disability | Chromosome abnormality | Chromosomal microarray | Developmental delay | Autism spectrum disorder
Journal Article
F1000Research, ISSN 2046-1402, 2018, Volume 7, p. 736
Short tandem repeats (STRs), also known as microsatellites, are commonly defined as consisting of tandemly repeated nucleotide motifs of 2-6 base pairs in... 
Short tandem repeats | Repeat expansion disorders | Short-read sequencing | Bioinformatics
Journal Article
Journal Article
Journal of Huntington's Disease, ISSN 1879-6397, 01/2018, Volume 7, Issue 4, p. 391
Background: For young people in families with Huntington’s disease (HD) the challenge of having an affected family member (AFM) compounds challenges related to... 
Huntington's disease | Young adults | Questionnaires
Journal Article
Audiology and Neurotology, ISSN 1420-3030, 05/2010, Volume 15, Issue 4, pp. 229 - 240
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 4, pp. 515 - 526
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 11, pp. 1239 - 1244
Journal Article
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