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Neurol 47:821-824, Stern,J.M., 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Angelman Syndrome: Clinical Profile
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Degenerative Diseases of the Nervous System, Cerebellar Degeneration
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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Syndrome of Cerebellar Ataxia and Hypogonadotrophic Hypogonadism:Evidence for Pituitary Gonadotrophin Deficiency
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