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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Muscular Dystrophies
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Neuroimaging Changes in Menkes Disease, Part 1
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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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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Niemann-Pick Disease Type C: Two Cases and an Update
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Niemann-Pick Disease Type C from Bench to Bedside
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Progressive Multifocal Leukoencephalopathy Complicating Wiskott-Aldrich Syndrome
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Hematologic Disorders and Ischemic Stroke
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Joubert Syndrome:A Clinico-Radiological Study
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Clinicopathological Conference
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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Ataxia Telangiectasia
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Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
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Azorean Disease of the Nervous System
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Niemann-Pick Type C Disease
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
Neonatal Seizures
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Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Ehlers-Danlos Syndromes
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