Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Clinical and Biomarker Changes in Dominantly Inherited Alzheimers Disease
NEJM 367:795-804,864, Bateman, R.J.,et al, 2012
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Factor V Leiden Mutation is a Risk Factor for Cerebral Venous Thrombosis,A Case-Control Study of 55 Patients
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997
Cerebral Venous Thrombosis:Role of Activated Protein C Resistance and Factor V Gene Mutation
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996
Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Clinical and Genetic Studies of Fatal Familial Insomnia
Neurol 45:1068-1075, Reder,A.T.,et al, 1995
Familial Alzheimer's Disease
Ann Neurol 36:335-336, Bird,T.D., 1994
Real and Imagined Clinicopathological Limits of"Prior Dementia"
Lancet 341:127-129, Brown,P.,et al, 1993
Infectious Prions or Cytotoxic Metabolites?
Lancet 341:159-161, Pablos-Mendez,A.,et al, 1993
Genetic Susceptibility in Familial Multiple Sclerosis not Linked to the Myelin Basic Protein Gene
Lancet 341:1179-1181, Rose,J.,et al, 1993
Choroido-Cerebral Calcification Syndrome with Retardation
Neurol 43:2387-2389, Singh,B.,et al, 1993
Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Protein S Deficiency in Middle-Aged Women with Stroke
Neurol 42:1029-1033, Green,D.,et al, 1992
Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,et al, 1992
Analysis of the Prion Protein Gene in Thalamic Dementia
Neurol 42:1859-1863, Petersen,R.B.,et al, 1992
Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991
The Spongiform Encephalopathies, Editorial
JNNP 54:761-763, Will,R.G., 1991
Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
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Inherited Human Prion Diseases
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Mendelian Etiologies of Stroke
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