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Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
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Alzheimers Disease
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Duchenne Muscular Dystrophy
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Autism
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Sturge-Weber Syndrome
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Sturge-Weber Syndrome
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Diagnosis and New Treatments in Muscular Dystrophies
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Neurofibromatosis Type 2
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Neurologic Manifestations of von Hippel-Lindau Disease
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Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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Amyotrophic Lateral Sclerosis
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Metabolic Disease and Stroke: MELAS
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Glycogen-Storage Disease Type II
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
von Hippel-Lindau Disease
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Hypertrophic Cardiomyopathy A Systematic Review
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Diagnosis and Treatment of Wilson's Disease
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
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Cerebrovascular Complications of Fabry's Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Myotonic Dystrophy
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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Fucosidosis Revisited:A Review of 77 Patients
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Retinitis Pigmentosa
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Neuroimaging Changes in Menkes Disease, Part 1
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Hydrocephalus in Children
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