A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
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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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Dopa-Responsive Dystonia Revisited
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Amyotrophic Lateral Sclerosis
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The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
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
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Natural History in Proximal Spinal Muscular Atrophy
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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