Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994
Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Hematologic Disorders and Ischemic Stroke
Stroke 21:1111-1121, Hart,R.G.&Kanter,M.C., 1990
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
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
Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
neurol 44:1083-1086, Lasser,D.M.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Central Nervous System Involvement in Von Hippel-Lindau Disease
Neurol 41:41-46, Filling-Katz,M.R.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990
Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
JNNP 53:644-648, Boughey,A.M.,et al, 1990
Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
J Comput Assist Tomogr 13:743-755, Filling-Katz,M.R.,et al, 1989
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
Wertelecki. W. , et al, NEJM 319:276-2838., , 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Inherited Multiple Meningiomas:A Clinical, Pathological & Cytogenetic Study of an Affected Family
JNNP 49:362-368, Battersby,R.D.E.,et al, 1986
Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
Am J Med 77:86-92, Press,O.L.W.,et al, 1984
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
Ann Neurol 11:372-376, Murphy,M.J.,et al, 1982
Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
A Family Affected with Intestinal Polyposis & Gliomas
Ann Neurol 10:390-392, Todd,D.W.,et al, 1981
Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
Neurol 29:1402, Book,R.H.,et al, 1979
Meningiomas in Five Members of a Family Over Two Generations, in One Member Simultaneously with Acoustic Neurinomas
Neurol 28:567, Delleman,J.W.,et al, 1978
Ataxia Telangiectasia
Arch Neurol 35:553-554, Teplitz,R.L., 1978
Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
Ann Neurol 4:130-144, Roman,G.,et al, 1978
Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
Arch Neurol 34:101, Adams,H.P.,et al, 1977
Neuroectodermal Tumors in the Cerebellum in Two Sisters
JNNP 40:886, Thomas,M.,et al, 1977
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022