A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Ehlers-Danlos Syndromes
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Spinal Muscular Atrophy
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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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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
von Hippel-Lindau Disease
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The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Clinical and Genetic Aspects of Distal Myopathies
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Hereditary Spastic Paraparesis: A Review of New Developments
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Hereditary Hemorrhagic Telangiectasia
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Genetice of Cerebrovascular Disease
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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
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Clinical Genetics and Genetic Counseling in Alzheimer Disease
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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The Spectrum of Fragile X Disorders
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Multivessel Cerebral Occlusion in Noonan Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Cavernous Maliformations of the Central Nervous System
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Vascular Malformations of the Central Nervous System
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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