A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Spinal Muscular Atrophy
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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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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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Characyeristic features and progression of abnormalities on MRI for CARASIL
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Neurofibromatosis Type 2
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Neuroimaging Findings in Human Prion Disease
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Hereditary Spastic Paraplegia
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Prader-Willi and Angelman Syndromes
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Significance of Fetal Choroid Plexus Cysts
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Fucosidosis Revisited:A Review of 77 Patients
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Neurological Manifestations of Fabry Disease in Female Carriers
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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