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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Neurological Management of Von Hippel-Lindau Disease
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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The Tuberous Sclerosis Complex
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Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
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Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Causal Heterogeneity in Isolated Lissencephaly
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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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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Ehlers-Danlos Syndromes
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Molybdenum Cofactor Deficiency
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Autism
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Epilepsy in Pregnancy
BMJ 335:769-774, Tomson,T. &Hiilesmaa,V., 2007
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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