Brain Tumors
NEJM 324:1471-1476, 1555-15641991., Black,P.McL., 1991
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Primary Brain Tumours in Adults
Lancet 361:323-331, Behin,A.,et al, 2003
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
Adams & Victors Principles of Neurology, Chp 31, pg 656, Ropper, A.H.,et al, 2014
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Familiality in Brain Tumors
Neurol 71:1015-1020, Blumenthal,D.T.&Cannon-Albright,L.A., 2008
Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
JNNP 75:1463-1466, Jin,K.,et al, 2004
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
CT and MR Findings of Neuroacanthocytosis
J Comput Assist Tomogr 21:221-222, Okamoto,K.,et al, 1997
Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
neurol 44:1083-1086, Lasser,D.M.,et al, 1994
Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Corticosteroid-Responsive Dominantly Inherited Neuropathy in Childhood
Neurol 41:437-439, Bird,S.J.&Sladky,J.T., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
Am J Med 91:416-422, Jurzrock,R.&Cohen,P.R., 1991
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
Familial Meningioma
Neurol 40:312-314, McDowell,J.R., 1990
Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
Arch Int Med 150:2395-2399, Zoppi,M.,et al, 1990
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
Recurrent Epistaxis in an Adolescent
BMJ 367:I5393, McLaren, O. & Ronan, N., 2019
Clinical Epidemiology of Familial Sarcoidosis
Respir Med 149:36-41, Terwiel, M. & Van Moorsel, C.H.M., 2019
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
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
A Case of Refractory Nocturnal Seizures
Neurol 84:e134-e136, Pavlakis, P.P. & Douglass, L.M., 2015
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
Adams & Victors Principles of Neurology, Chp 33, pg 773, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014