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Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss
Cerebellar ataxia has been described as being associated with hypogonadism for almost 100 years. In the majority of cases, hypogonadism is hypogonadotropic. The association of cerebellar ataxia withExpand
PAW32 ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description of a novel kindred
An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description of a novel kindred. Spinocerebellar ataxia (SCA) 15/16 is an autosomal dominantlyExpand
Linkage analysis on the SCA11 locus
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