A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
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A 10-year-old boy with Bilateral Vision Loss
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Neuromyelitis Optica Spectrum Disorders
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
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Familial Neuromyelitis Optica
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Hereditary Motor and Sensory Neuropathies
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Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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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
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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
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Bilateral Opercular Polymicrogyria
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Friedreich Ataxia
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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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
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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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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 53-year-old Woman with Lower Extremity Paresthesias
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Complex Ataxia
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Recurrent Cerebral Ischemia During Pregnancies
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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A 60-year-old man with arm weakness and numbness
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Clinical Reasoning: A Teenager with Left Arm Weakness
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A Young Man with Progressive Vision and Hearing Loss
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Extending the KCNQ2 encephalopathy Spectrum
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