GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Neuromyelitis Optica Spectrum Disorders
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Spinal Muscular Atrophy
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Recurrent Acroparaesthesia During Febrile Infections
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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
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Alzheimer's Disease and Parkinson's Disease
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Familial Neuromyelitis Optica (Devics Syndrome) with Late Onset in Japan
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CT and MR Findings of Neuroacanthocytosis
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Niemann-Pick Disease Type C from Bench to Bedside
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Periventricular Heterotopia and Epilepsy
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Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Chronic Neurodegenerative Disease Associated with HTLV-II Infection
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Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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The Spectrum of Fragile X Disorders
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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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 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Cavernous Maliformations of the Central Nervous System
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Vascular Malformations of the Central Nervous System
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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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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Thyrotoxic Periodic Paralysis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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