Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia
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Familial Cavernous Malformations of the Central Nervous System & Retina
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
AJNR 41:1126-1130, Mabray, M.C.,et al, 2020
Recurrent Cerebral Ischemia During Pregnancies
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Cranial Cavernous Malformations
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Familial Versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype
AJNR 31:377-382, Petersen,T.A.,et al, 2010
Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
Neurosurg Focus 29:E7, Washington,C.W.,et al, 2010
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Value of Gradient-Echo Magnetic REsonance Imaging in the Diagnosis of Familial Cerebral Cavernous Malformation
Arch Neurol 62:653-658, Lehnhardt,F-G.,et al, 2005
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
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von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Prospective Follow-up of 33 Asymptomatic Patients with Familial Cerebral Cavernous Malformations
Neurol 57:1825-1828, Labauge,P.,et al, 2001
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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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
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Screening Family Members of Patients with Hereditary Hemorrhagic Telangiectasia
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Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
Neurol 40:1359-1363, Coppeto,J.R.&Lessel,S., 1990
Magnetic Resonance Imaging in a Family with Hereditary Cerebral Arteriovenous Malformations
Arch Neurol 46:184-187, Allard,J.C.,et al, 1989
Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
Ann Neurol 26:699-708, Hold,I.J.,et al, 1989
Cerebral Cavernous Malformations:Incidence and Familial Occurrence
NEJM 319:343-347, Rigamonti,D.,et al, 1988
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Familial Arteriovenous Malformation of the Brain
Neurol 31:184-186, Aberfeld,D.C.,et al, 1981
Familial Arteriovenous Malformation
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Familial Vascular Malformation or Chance Occurrence
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Familial Cavernous Angiomas
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