The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopath Conf
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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
NEJM 388:1692-1700, Ropper.A.H., 2023
Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Molybdenum Cofactor Deficiency
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Red Papules on the Tongue of a Patient with Hemiparesis
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Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Dystonia
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Parkinsons Disease and Genetics
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Complete Genomic Screen in Parkinson Disease
JAMA 286:2239-2244, Scott,W.K.,et al, 2001
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
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Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
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Hereditary Form of Parkinsonism-Dementia
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Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Preclinical Detection of Parkinson's Disease
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Acute Intermittent Porphyria
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
Neurol 35:227-234, Jankovic,J.,et al, 1985
Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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Neurological Manifestations of Fabry Disease in Female Carriers
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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