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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Alzheimers Disease
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Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Ehlers-Danlos Syndromes
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
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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Autism
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Sturge-Weber Syndrome
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The Limbic-Girdle Muscular Dystrophies
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Sturge-Weber Syndrome
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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Autism
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Neurofibromatosis
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Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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The Tuberous Sclerosis Complex
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Glycogen-Storage Disease Type II
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
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Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Diagnosis and Treatment of Wilson's Disease
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Tourette Syndrome:Update and Review of the Literature
The Neurologist 4:188-195, Feigin,A.&Clarke,H., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Inclusion Body Myositis and Myopathies
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Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Myotonic Dystrophy
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Wilson Disease
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Wilson's Disease:Current Status
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