Hypomelanosis of Ito
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Neurologic Complications in Long-Standing Nephropathic Cystinosis
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Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
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Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Ehlers-Danlos Syndromes
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Mystery Case: A Young Boy with Myoclonic Jerks
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Sturge-Weber Syndrome
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Huntingtons Disease
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Neurofibromatosis Type 2
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Autism
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
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