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The Tuberous Sclerosis Complex
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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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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von Hippel-Lindau Disease
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Molecular Genetics in Neurology
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Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
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
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Intracranial Neoplasms and Paraneoplastic Disorders
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The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy A Timely Review
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Neurofibromatosis Type 2
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Spinal Muscular Atrophy
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Sickle Cell Disease: The Neurological Complications
Ann Neurol 51:543-552, Prengler,M.,et al, 2002
Gliomatosis Cerebri: Molecular Pathology and Clinical Course
Ann Neurol 52:390-399,389, Herrlinger,U.,et al, 2002
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Gene Therapy for Neurologic Disease
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Wilson Disease
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Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
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More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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