Niemann-Pick Type C Disease
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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 Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Amyotrophic Lateral Sclerosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Huntingtons Disease
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Prader-Willi and Angelman Syndromes
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Molecular Genetics in Neurology
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Progressive Language Disorder Due to Lobar Atrophy
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Analysis of the Prion Protein Gene in Thalamic Dementia
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Angelman Syndrome: Clinical Profile
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Ethanol and the Nervous System
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Central Core Disease, Clinical Features in 13 Patients
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Epidemiology of Motor-Neuron Diseases
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Dominant Juvenile Optic Atrophy
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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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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Neonatal Seizures
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
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