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New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth
JMD. 2021;14(1):70-74.   Published online 2020 October 31    DOI: https://doi.org/10.14802/jmd.20082

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New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
Journal of Movement Disorders. 2021;14(1):70-74   Crossref logo
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Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore
Clinical Genetics. 2002;62(6):478-481   Crossref logo
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Gene mutations causing autosomal dominant cerebellar ataxia in Japan
Neuroscience Research. 2010;68:e311   Crossref logo
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A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA)
Neuroscience Research. 2007;58:S17   Crossref logo
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Autosomal dominant cerebellar ataxia with progressive pigmentary macular dystrophy
The Cerebellum and its Disorders. 2001;459-468   Crossref logo
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Autosomal dominant cerebellar ataxia
Neurodegenerative Diseases. 2005;709-718   Crossref logo
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A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia
neurogenetics. 2015;16(3):233-236   Crossref logo
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Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
PLoS ONE. 2013;8(2):e56362   Crossref logo
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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2
Case Reports in Neurological Medicine. 2018;2018:1-3   Crossref logo
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Identification of a Novel MICU1 Nonsense Variant Causes Myopathy with Extrapyramidal Signs in an Iranian Consanguineous Family
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