Human Prion Diseases
Ann Neurol 35:385-395, Prusiner,S.B.&Hsiao,K.K., 1994
Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
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Prion Dementia Without Characteristic Pathology
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Inherited Human Prion Diseases
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Pediatric Leigh Syndrome
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
The Genetics of Alzheimer Disease, Current Status and Future Prospects
Arch Neurol 55:294-296, Blacker,D.&Tanzi,R.E., 1998
Exploring the Etiology of Alzheimer Disease Using Molecular Genetics
JAMA 277:825-831, Lendon,C.L.,et al, 1997
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,et al, 1993
The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
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The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Diagnosis and New Treatment in Muscle Channelopathies
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Neurofibromatosis Type 2
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Unusual Variants of Alexander's Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 2004
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
Alzheimer Disease
JAMA 287:2335-2338, Cummings,J.L. &Cole,G., 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002