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Am J Med 77:86-92, Press,O.L.W.,et al, 1984
Clinical pathological conference
Von Hippel-Lindau disease, Case Record 1-1978, NEJM 298:95978., , 1978
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JAMA Neurol 81:658-659, Marien,L.,et al, 2024
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Neurol 103:e209844, Dhawan,A.,et al, 2024
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Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
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Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
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Neurol 98:468-469, Zhao, B.,et al, 2022
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NEJM 385:1317-1325, Case 30-2021, 2021
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Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
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Neurol 93:557-561, Urso, D.,et al, 2019
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NEJM 376:972-980, Case 7-2017, 2017
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Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
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Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
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Neurol 85:459-463, Sekine, Y., etal, 2015
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
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MedLink Neurology, July, Comi, A.M., 2013
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
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UpToDate, Feb, Shovlin, C., 2011
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Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
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Medicine 86:1-7, Cottin,V.,et al, 2007
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Medicine 84:129-136, Lok,C.,et al, 2005
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Radiology 214:209-216, Brunereau,L.,et al, 2000
Hereditary Cerebral Cavernous Angiomas:Clinical and Genetic Features in 57 French Families
Lancet 352:1892-1897, Labauge,P.,et al, 1998
Linkiage of Locus for Cerebral Cavernous Hemagiomas to Chromosome 7q in 4 Families of Mexican-American Descent
Neurol 48:752-757, Polymeropoulos,M.H.,et al, 1997
Familial Cerebral Cavernous Angiomas:Clinical and Radiologic Studies
Neurol 45:492-497, Kattapong,V.J.,et al, 1995
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NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
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Am J Med 99:519-524, Haitjema,T.,et al, 1995
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
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JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
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Neurol 42:2220-2221, Richen,P.&Tandan,R., 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
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Neurol 41:41-46, Filling-Katz,M.R.,et al, 1991
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Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
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JNNP 53:644-648, Boughey,A.M.,et al, 1990
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JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Magnetic Resonance Imaging in a Family with Hereditary Cerebral Arteriovenous Malformations
Arch Neurol 46:184-187, Allard,J.C.,et al, 1989
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Medicine 68:1-29, Lamiell,J.M.,et al, 1989
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J Comput Assist Tomogr 13:743-755, Filling-Katz,M.R.,et al, 1989
Cerebral Cavernous Malformations:Incidence and Familial Occurrence
NEJM 319:343-347, Rigamonti,D.,et al, 1988
Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988
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Am J Med 85:718-720, Gelfand,M.S.,et al, 1988
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Neuropediatrics 19:62-71, Voit,T.,et al, 1988
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Ann Neurol 21:578-583, Dobyns,W.B.,et al, 1987
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Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
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Am J Med 82:989-997, Perry,W.H., 1987
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J Pediatr 110:522-530, Reid,C.S.,et al, 1987