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A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
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
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
Neuromyelitis Optica Spectrum Disorders
UpToDate, May, Glisson,C.C., 2016
Familial Neuromyelitis Optica
Neurol 75:310-315, Matiello,M., et al, 2010
Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002
Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Familial Idiopathic Intracranial Hypertension with Spinal and Radicular Pain
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
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Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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An unusual cause of stroke and hypoxia
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Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Genetic Aspects of Alzheimer Disease
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Leukodystrophies: Classification, Diagnosis, and Treatment
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Familial Dementia With Lewy Bodies
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Adult-Onset MELAS Presenting as Herpes Encephalitis
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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A Clinical Study of Noonan Syndrome
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Myasthenic Abduction Nystagmus in a Patient with Hyperthyroidism
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Vascular Malformations of the Central Nervous System
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Amyotrophic Lateral Sclerosis
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