Results 31 to 40 of about 98,886 (297)

Mapping gene associations in human mitochondria using clinical disease phenotypes [PDF]

, 2009
Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical ...
A Hamosh, A Spinazzola, AJ Butte, Andrey Rzhetsky, BB Lowell, C Eng, C Perez-Cerda, Curt Scharfe, D Skladal, DC Wallace, E Singer, Edward A. Allen, FW Sabb, G Benard, G Giaever, GM Enns, Gregory M. Enns, Guan-Cheng Li, H Prokisch, H Prokisch, Henry Horng-Shing Lu, HG Brunner, I Feldman, IH Witten, J Lim, JB Potash, JD Storey, JO Sass, Jutta K. Neuenburg, K Lage, KI Goh, L Franke, LG Biesecker, LM Steinmetz, MA Holliday, MA van Driel, MG Rosca, N Darin, N Freimer, O Elpeleg, P Braun, PF Chinnery, PM Nadkarni, R Delsite, R Ensenauer, R Luft, Ronald W. Davis, S Anderson, S Calvo, S DiMauro, SE Calvano, T Hernandez-Boussard, TD Vo, Thomas Klopstock, Tina M. Cowan, TM Dawson, V Tiranti, VK Mootha   +57 more
core   +5 more sources

Optic Nerve Sheath Meningioma in the First Decade of Life: Case Report and Review of the Literature

Case Reports in Ophthalmology, 2012
Background/Aim: Tumors of the optic nerve are mostly either optic nerve gliomas or optic nerve sheath meningiomas (ONSMs). While gliomas occur in children, most meningiomas are slow-growing tumors affecting middle-aged individuals with progressive visual
Mário L.R. Monteiro, Allan Christian P. Gonçalves, Sheila Aparecida C. Siqueira, Eloísa M.M. Gebrim   +3 more
doaj   +1 more source

Rapid progression from trochlear nerve palsy to orbital apex syndrome as an initial presentation of advanced gastric cancer [PDF]

Yeungnam University Journal of Medicine, 2019
The most cases with orbital metastases have been reported in patients with a prior established diagnosis of cancer and widespread systemic involvement.
Eunjung Kong, Sung Ae Koh, Won Jae Kim
doaj   +1 more source

Nasal mucoepidermoid carcinoma after radiotherapy: Case report

Brazilian Neurosurgery, 2022
Introduction Mucoepidermoid carcinoma (MEC) is a tumor originated from the epithelium of the glandular excretory ducts and has highly variable biological potential. It is the most prevalent cancer of the salivary glands.
Breno Nery, Victor Ribeiro Xavier Costa, Glaudir Donato Pinto Júnior, Andrey Maia Silva Diniz, Lucas Ribeiro de Moraes Freitas, Davi Coutinho Marcelino Guerra Leone, José Alencar de Sousa Segundo, Mariana Junqueira Reis Enout, Eduardo Quaggio, Renan Lopez Rivero   +9 more
doaj   +1 more source

Exploring the interdependencies of research funders in the UK [PDF]

, 2014
Investment in medical research is vital to the continuing improvement of the UK's health and wealth. It is through research that we expand our understanding of disease and develop new treatments for patients.
Crane, P, Farrell, C, Garau, M, Grassano, N, Hernandez-Villafuerte, K, Hopkins, M M, Hutton, J, Lang, F, Mawer, A, Pateman, C, Rotolo, D, Shah, K, Sharp, T, Sussex, J   +13 more
core   +1 more source

Gliomas do nervo óptico: estudo de 11 casos Optic nerve gliomas: a study of 11 cases

Arquivos de Neuro-Psiquiatria, 1996
Os gliomas do nervo óptico podem apresentar-se esporadicamente ou como componentes da neurofibromatose. São neoplasias raras, correspondendo a 2 a 5% dos tumores intracranianos e cerca de 6% dos tumores intra-orbitários. No presente estudo, analisamos 11
Luiz Fernando Bleggi Torres, Bruno Carneiro De Medeiros, Lúcia De Noronha, Ari Pedroso, Ricardo Ramina   +4 more
doaj   +1 more source

Current treatment of optic nerve gliomas.

Current Opinion in Ophthalmology, 2019
PURPOSE OF REVIEW Optic pathway gliomas are low-grade neoplasms that affect the precortical visual pathway of children and adolescents. They can affect the optic nerve, optic chiasm, optic tracts and radiations and can either be sporadic or associated ...
Marybeth K. Farazdaghi, W. Katowitz, R. Avery   +2 more
semanticscholar   +1 more source

Clinical course of compressive optic neuropathy in skull-base tumors

Journal of Ophthalmology, 2020
Background: Skull-base tumors (SBTs) of the middle and anterior fossae typically cause mass effect on the optic nerve/chiasm complex. The most common of these neoplasms are pituitary adenomas, meningiomas and craniopharyngiomas.
K.S. Iegorova, L.V. Zadoianyi, M.O. Guk, A.A. Chukov, O.V. Ukrainets, L.O. Danevych, A.O. Mumliev   +6 more
doaj   +1 more source

Spectrum of Neurologic Complications in Chronic Lymphocytic Leukemia [PDF]

, 2012
Neurologic disease is believed to be an unusual complication during the course of chronic lymphocytic leukemia. Nevertheless, it has already been proven in autopsy series that the incidence of occult nervous system infiltration is much higher than was ...
Lopes Silva, R
core   +1 more source

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]

, 2018
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena), Barnett, C.P. (Christopher P.), Becker, T.A. (Troy A.), Ben-Shachar, S. (Shay), Bertola, D.R. (Débora Romeo), Blakeley, J.O. (Jaishri O.), Burkitt-Wright, E.M.M. (Emma M.M.), Callaway, A. (Alison), Callens, T. (Tom), Chen, Y. (Yunjia), Chen, Z. (Zhenbin), Claes, K. (Kathleen), Crenshaw, M. (Melissa), Cunha, K.S. (Karin S.), Cunningham, M. (Mitch), D'Agostino, M.D. (Maria Daniela), Dahan, K. (Karin), De Luca, A. (Alessandro), Destrée, A. (Anne), Dhamija, R. (Radhika), Eoli, M. (Marica), Evans, D.G.R. (D. Gareth R.), Galvin-Parton, P. (Patricia), George-Abraham, J.K. (Jaya K.), Gomes, A. (Alicia), Gripp, K.W. (Karen), Guevara-Campos, J. (Jose), Hanchard, N.A. (Neil A.), Hernández-Chico, C. (Concepcion), Hsiao, M.-C. (Meng-Chang), Immken, L. (LaDonna), Janssens, S. (Sandra), Johnson, S. (Sherrell), Jones, K.J. (Kristi), Keena, B.A. (Beth A.), Kochhar, A. (Aaina), Koczkowska, M. (Magdalena), Korf, B. (Bruce), Legius, E. (Eric), Liebelt, J. (Jan), Mahoney, M.J. (Maurice J.), Martin, Y. (Yolanda), Martir-Negron, A. (Arelis), Maystadt, I. (Isabelle), McDougall, C. (Carey), McEntagart, M. (Meriel), Mendelsohn, N.J., Messiaen, L.M. (Ludwine), Miller, D.T. (David T.), Mortier, G. (Geert), Morton, J. (Jenny), Pappas, J. (John), Plotkin, S.R. (Scott R.), Pond, D. (Dinel), Rosenbaum, K. (Kenneth), Rubin, K. (Karol), Russell, L. (Laura), Rutledge, L.S. (Lane S.), Saletti, V. (Veronica), Schonberg, R. (Rhonda), Schreiber, A. (Allison), Seidel, M. (Meredith), Sharp, A. (Angela), Siqveland, E. (Elizabeth), Stockton, D.W. (David), Thornton, A.S. (Andrew), Trevisson, E. (Eva), Ullrich, N.J. (Nicole J.), Upadhyaya, M. (Meena), Verhelst, H. (H.), Wallace, M.R. (Margaret), Yap, Y.-S. (Yoon-Sim), Zackai, E. (Elaine), Zonana, J. (Jonathan), Zurcher, V. (Vickie)   +74 more
core   +1 more source