Niemann-Pick Disease Type C: Two Cases and an Update
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
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 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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Nystagmus of Pelizaeus-Merzbacher Disease
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Clinicopath Conf
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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
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Familial Periodic Ataxia
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Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Juvenile Diabetes Mellitus & Optic Atrophy
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