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The Tuberous Sclerosis Complex
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Chromosome 19 Single-Locus & Multilocus Haplotype Assoc with MS, Evid of New Suscept Locus in Caucasian & Chinese Pts
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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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Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
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Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Zika Virus Associated with Microcephaly
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Spinal Muscular Atrophy A Timely Review
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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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
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Whipples Disease
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Fragile X Premutation With Atypical Symptoms at Onset
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Unusual Variants of Alexander's Disease
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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von Hippel-Lindau Disease
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Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
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CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Molecular Basis of the Neurodegenerative Disorders
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PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
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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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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Mitochondrial DNA and Disease
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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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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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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