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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Sturge-Weber Syndrome
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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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
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Amyotrophic Lateral Sclerosis
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The Muscular Dystrophies
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Acid Maltase Deficiency
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Cavernous Maliformations of the Central Nervous System
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
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Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
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
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Parkinson Disease Subtypes
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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
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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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
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., 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
A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
Neurol 73:16-24,11, Wills,A.-M.,et al, 2009
Aicardi-Gouti�res Syndrome
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