Benign Sexual Headach within a Family
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Spinal Muscular Atrophy
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Ehlers-Danlos Syndromes
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A 10-year-old boy with Bilateral Vision Loss
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Niemann-Pick Disease Type C from Bench to Bedside
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Hereditary Hemorrhagic Telangiectasia
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Myotonic Dystrophy
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
The Spectrum of Fragile X Disorders
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A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Multivessel Cerebral Occlusion in Noonan Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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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
NEJM 388:1692-1700, Ropper.A.H., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Thyrotoxic Periodic Paralysis
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A 6-Year-Old Girl with Progressive Toe Walking
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Amyotrophic Lateral Sclerosis
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Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021