Fibromuscular Dysplasia and Its Neurologic Manifestations
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Parkinson Disease Subtypes
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Hereditary Hemorrhagic Telangiectasia
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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
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Genetics of Cluster Headache Takes a Leap
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Recurrent Cerebral Ischemia During Pregnancies
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Dopa-Responsive Dystonia Revisited
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Genes Associated With Adult Cerebral Venous Thrombosis
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An unusual cause of stroke and hypoxia
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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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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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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Familiality in Brain Tumors
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Amyotrophic Lateral Sclerosis
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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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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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Collaborative Analysis of a-Synuclein Gene Promotor Variability and Parkinson Disease
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The Tuberous Sclerosis Complex
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Unusual Variants of Alexander's Disease
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Parkinson's Disease
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Myotonic Dystrophy Type 2
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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New Players in the Genetics of Stroke
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Amyotrophic Lateral Sclerosis
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