Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Complex Ataxia
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Neurological Management of Von Hippel-Lindau Disease
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Niemann-Pick Disease Type C: Two Cases and an Update
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Nystagmus of Pelizaeus-Merzbacher Disease
Arch Neurol 48:87-91, Trobe,J.D.,et al, 1991
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Clinicopathological Conference
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Primary Position Vertical Nystagmus & Cerebellar Ataxia
Arch Neurol 40:310-314, Kattah,J.C.,et al, 1983
Progressive Supranuclear Palsy & Hyperkalemic Periodic Paralysis
Arch Neurol 37:461-462, Foster,N.L.,et al, 1980
Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
Arch Neurol 36:95-99, Neil,J.F.,et al, 1979
Congenital Ocular Motor Apraxia
Arch Neurol 36:29-31, Orrison,W.W.,et al, 1979
Familial Periodic Ataxia
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Azorean Disease of the Nervous System
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Juvenile Diabetes Mellitus & Optic Atrophy
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