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Hereditary Hemorrhagic Telangiectasia
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Brain Tumors
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Neuroimaging Features of Biotinidase Deficiency
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
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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Wilson Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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An unusual cause of stroke and hypoxia
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Diagnosis and New Treatments in Muscular Dystrophies
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
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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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The Tuberous Sclerosis Complex
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Wilson Disease
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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