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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Causal Heterogeneity in Isolated Lissencephaly
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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