Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Iron-Binding Proteins/genetics"'
Autor:
Brice Marty, Vincent Wens, Xavier De Tiège, Mathieu Bourguignon, Serge Goldman, Massimo Pandolfo, Riitta Hari, William Gaetz, David A. Lynch, Veikko Jousmäki, Gilles Naeije
Publikováno v:
Neurology
To assess with magnetoencephalography the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA).
info:eu-repo/semantics/published
info:eu-repo/semantics/published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ea7d5c8c3500726c2fb75852593939
https://aaltodoc.aalto.fi/handle/123456789/40088
https://aaltodoc.aalto.fi/handle/123456789/40088
Autor:
Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Nicholas, A K, Serra, E G, Cangul, H, Alyaarubi, S, Ullah, I, Schoenmakers, E, Deeb, A, Habeb, A M, Almaghamsi, M, Peters, C, Nathwani, N, Aycan, Z, Saglam, H, Bober, E, Dattani, M, Shenoy, S, Murray, P G, Babiker, A, Willemsen, R, Thankamony, A, Lyons, G, Irwin, R, Padidela, R, Tharian, K, Davies, J H, Puthi, V, Park, S-M, Massoud, A F, Gregory, J W, Albanese, A, Pease-Gevers, E, Martin, H, Brugger, K, Maher, E R, Chatterjee, V K K, Anderson, C A & Schoenmakers, N 2016, ' Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ ', The Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4521-4531 . https://doi.org/10.1210/jc.2016-1879
Nicholas, A K, Serra, E G, Cangul, H, Alyaarubi, S, Ullah, I, Schoenmakers, E, Deeb, A, Habeb, A M, Almaghamsi, M, Peters, C, Nathwani, N, Aycan, Z, Saglam, H, Bober, E, Dattani, M, Shenoy, S, Murray, P G, Babiker, A, Willemsen, R, Thankamony, A, Lyons, G, Irwin, R, Padidela, R, Tharian, K, Davies, J H, Puthi, V, Park, S-M, Massoud, A F, Gregory, J W, Albanese, A, Pease-Gevers, E, Martin, H, Brugger, K, Maher, E R, Chatterjee, V K K, Anderson, C A & Schoenmakers, N 2016, ' Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ ', The Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4521-4531 . https://doi.org/10.1210/jc.2016-1879
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0db38b423aebd37dd442bfb2eec37222
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oai
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oai
Publikováno v:
Virology. 405(2):524-529
Epstein–Barr virus (EBV) is widely spread in the human population. EBV nuclear antigen 1 (EBNA1) is a transcription factor that activates viral genes and is necessary for viral replication and partitioning, which binds the EBV genome cooperatively.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a22d089d7f8dbe687303635e879b83
Autor:
Ryan Burnett, David Herman, Giovanni Coppola, Massimo Pandolfo, Elisabetta Soragni, Kai Jenssen, Joel M. Gottesfeld, Myriam Rai, Daniel H. Geschwind
Publikováno v:
PLoS ONE, Vol 3, Iss 4, p e1958 (2008)
PloS one, 3 (4
PLoS ONE
PloS one, vol 3, iss 4
PloS one, 3 (4
PLoS ONE
PloS one, vol 3, iss 4
BACKGROUND: Friedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein. All Friedreich ataxia patients carry a GAATTC repeat expansion in the fir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2639936437f263297affea492f673127
http://europepmc.org/articles/PMC2373517?pdf=render
http://europepmc.org/articles/PMC2373517?pdf=render