A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Young Man with Progressive Vision and Hearing Loss
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Neurological Management of Von Hippel-Lindau Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mucolipidosis Type IV; Characteristic MRI Findings
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Cockayne Syndrome: Review of 140 Cases
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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MR Imaging of a Group I Case of Hallervorden-Spatz Disease
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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A Family with Hereditary Ataxia:HLA Typing
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Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978
A 60-Year-Old Man with Weakness and Gait Dysfunction
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Metabolic Disease and Stroke: MELAS
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
Parkinson's Disease
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Endolymphatic Sac Tumors, A Source of Morbid Hearing Loss in von Hippel-Lindau Disease
JAMA 277:1461-1466, Manski,T.J.,et al, 1997
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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