Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Metabolic Disease and Stroke: MELAS
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Cerebrovascular Complications of Fabry's Disease
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
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Transient Tic Disorder and the Spectrum of Tourette's Syndrome
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Clinicopathological Conference
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Neonatal Seizures
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"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Restricted Diffusion in Vanishing White Matter
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The Floppy Infant: Evaluation of Hypotonia
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Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
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Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Hypertrophic Cardiomyopathy A Systematic Review
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Ion Channel Diseases:Episodic Disorders of the Nervous System
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Paroxysmal Cerebellar Ataxia
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Hereditary Paroxysmal Ataxia:Response to Acetazolamide
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Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Alzheimers Disease
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Duchenne Muscular Dystrophy
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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