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UnknownPNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Not available
S-EPMC3891450 | biostudies-literature
UnknownA Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Not available
S-EPMC4667105 | biostudies-literature
UnknownDefects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
Not available
S-EPMC4927383 | biostudies-literature
UnknownGenome sequencing in families with congenital limb malformations.
Not available
S-EPMC8263393 | biostudies-literature
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