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Recurrent Cerebral Ischemia During Pregnancies
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Muscular Dystrophies
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Degenerative Diseases of the Nervous System, Parkinson Disease
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An unusual cause of stroke and hypoxia
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Alzheimers Disease
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Ehlers-Danlos Syndromes
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014
Parkin Disease
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Dopa-Responsive Dystonia Revisited
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Neurofibromatosis
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Tuberous Sclerosis
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Amyotrophic Lateral Sclerosis
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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The Tuberous Sclerosis Complex
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Genetics of Parkinsons Disease and Parkinsonism
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Unusual Variants of Alexander's Disease
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Parkinson's Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Myotonic Dystrophy Type 2
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Amyotrophic Lateral Sclerosis
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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The Muscular Dystrophies
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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