Zobrazeno 1 - 6
of 6
pro vyhledávání: '"J. R. Gorospe"'
Autor:
Sakku Bai Naidu, Jeffrey M. Trent, Dietrich A. Stephan, Tommi Kainu, Eric P. Hoffman, J. R. Gorospe, F. Wu, Bhim Singhal
Publikováno v:
Neurology. 62:878-882
Background:A distinct clinical syndrome characterized by megalencephaly, mild to moderate cognitive decline, slowly progressive spasticity, ataxia, occasional seizures, and extensive white matter changes with temporal cysts by imaging studies has bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd6a88b90e739952e0d0ebdfa3ad3f55
https://doi.org/10.1212/01.wnl.0000115106.88813.5b
https://doi.org/10.1212/01.wnl.0000115106.88813.5b
Autor:
Michael Brenner, A. B. Johnson, R. Fernandez, Albee Messing, M. S. van der Knaap, S. D. Jenkins, Gerald V. Raymond, V. Puri, Eric P. Hoffman, D. De Vivo, D. Lewis, R. C. Pedersen, P. Knowles, S. Naidu, J. R. Gorospe
Publikováno v:
Neurology, 58(10), 1494-1500. Lippincott Williams and Wilkins
Gorospe, J R, Naidu, S, Johnson, A B, Puri, V, Raymond, G V, Jenkins, S D, Pedersen, R C, Lewis, D, Knowles, P, Fernandez, R, De Vivo, D, Van der Knaap, M S, Messing, A, Brenner, M & Hoffman, E P 2002, ' Molecular findings in symptomatic and pre-symptomatic Alexander disease patients ', Neurology, vol. 58, no. 10, pp. 1494-1500 . https://doi.org/10.1212/WNL.58.10.1494
Gorospe, J R, Naidu, S, Johnson, A B, Puri, V, Raymond, G V, Jenkins, S D, Pedersen, R C, Lewis, D, Knowles, P, Fernandez, R, De Vivo, D, Van der Knaap, M S, Messing, A, Brenner, M & Hoffman, E P 2002, ' Molecular findings in symptomatic and pre-symptomatic Alexander disease patients ', Neurology, vol. 58, no. 10, pp. 1494-1500 . https://doi.org/10.1212/WNL.58.10.1494
Background and objective Alexander disease is a slowly progressive CNS disorder that most commonly occurs in children. Until recently, the diagnosis could only be established by the histologic finding of Rosenthal fibers in brain specimens. Mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad6224c2f195fcba4001b5fe16cd5d52
https://doi.org/10.1212/wnl.58.10.1494
https://doi.org/10.1212/wnl.58.10.1494
Autor:
Albee Messing, K. Brockman, J. R. Gorospe, Raphael Schiffmann, Elliott H. Sherr, D. Fain, J. Ferreira, Thomas R. Hartka, J. Fleming, Roger L. Albin, A. Reddy, M.T. Dotti, K. Wakabayashi, D. Gill, Adeline Vanderver, Y. Sawaishi, M. Nakagawa, Jichuan Wang, Erynn Gordon, D. Lewis, Heather Gordish-Dressman, Hiroki Morizono, Y. Takiyama, Michael Brenner, M. Schneider, Morgan Prust, H. Amartino, R. Fernandez, Paige Kaplan, M. Griebel, H. Heilstedt, R. C. Pedersen, A. Dinopoulos, A. Sokohl
Publikováno v:
Prust, M; Wang, J; Morizono, H; Messing, A; Brenner, M; Gordon, E; et al.(2011). GFAP mutations, age at onset, and clinical subtypes in Alexander disease. NEUROLOGY, 77(13), 1287-1294. doi: 10.1212/WNL.0b013e3182309f72. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4sz3t27q
Objective: To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c38d411e8275355e7bd596c7a274ae9
http://www.escholarship.org/uc/item/4sz3t27q
http://www.escholarship.org/uc/item/4sz3t27q
Publikováno v:
Journal of thrombosis and haemostasis : JTH. 5(1)
We have reported on a patient with thrombocytopenia, impaired platelet aggregation, secretion, phosphorylation of pleckstrin and myosin light chain (MLC), and GPIIb-IIIa activation, associated with a heterozygous mutation in transcription factor CBFA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb982158c67944f529ac6e5b715e5c7
https://pubmed.ncbi.nlm.nih.gov/17059412
https://pubmed.ncbi.nlm.nih.gov/17059412
Publikováno v:
Journal of the neurological sciences. 122(1)
Dystrophin deficiency has been shown to be the underlying cause of Duchenne muscular dystrophy. Although dystrophin-deficient homologous animal models have been identified (dog, mouse, and cat), the clinical expression of the biochemical defect is sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a99f4699dd9707b84bf0d1372a5503b
https://pubmed.ncbi.nlm.nih.gov/8195802
https://pubmed.ncbi.nlm.nih.gov/8195802
Autor:
J R, Gorospe, E P, Hoffman
Publikováno v:
Current opinion in rheumatology. 4(6)
Advances in the understanding of the genetic basis for Duchenne muscular dystrophy over the past 4 years has led to the quick application of molecular diagnostics. More recently, attention has turned towards acquiring a better understanding of dystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3e00e2040d6ab5530b2d979133981c5
https://pubmed.ncbi.nlm.nih.gov/1457273
https://pubmed.ncbi.nlm.nih.gov/1457273