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Muscular Dystrophies
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A Neonate with Micrognathia and Hypotonia
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A 52-year-old Woman with Progressive Proximal Weakness
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Glycogen-Storage Disease Type II
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Neurologic Crises in Hereditary Tyrosinemia
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Acute Intermittent Porphyria
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Ethanol and the Nervous System
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The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
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Familial Fatal Parkinsonism with Alveolar Hypoventilation & Mental Depression
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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Obstructive Sleep Apnea in Family Members
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Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Wilson Disease
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Huntingtons Disease
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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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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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Non-Progressive Familial Idiopathic Intracranial Calcification:A Family Report
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Migraine:Theories of Pathogenesis
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Familial Parkinsonism, Apathy, Weight Loss & Central Hypoventilation:Successful Long-Term Management
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Rett Syndrome:Natural History and Management
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Genetic Linkage in Neurologic Diseases
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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