Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sanda Giurgea"'
Autor:
Gabrielle Rudolf, Patrick Van Bogaert, Anne-Sophie Tilmant, Sanda Giurgea, Claudine Sculier, Philippe Paquier, Gaetan Lesca, Xavier De Tiège
Publikováno v:
Epileptic disorders
Epileptic Disorders
Epileptic Disorders, 2017, 19 (3), pp.345-350. ⟨10.1684/epd.2017.0931⟩
Epileptic disorders, 19 (3
Epileptic Disorders
Epileptic Disorders, 2017, 19 (3), pp.345-350. ⟨10.1684/epd.2017.0931⟩
Epileptic disorders, 19 (3
Epileptic encephalopathies with continuous spike-and-waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08493d5299ef9b35c4308f7608d40c86
https://hdl.handle.net/10067/1450900151162165141
https://hdl.handle.net/10067/1450900151162165141
Autor:
Elisa Leão-Teles, Memnune Yuksel-Apak, M. Foulon, Jaak Jaeken, Stefan Mundlos, L. Van Maldergem, Marie T. Greally, William B. Dobyns, Jacqueline Vigneron, Lina Basel-Vanagaite, Sanda Giurgea, E. Seemanova, Hülya Kayserili
Publikováno v:
Neurology. 71:1602-1608
To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through an international collaboration effort.Careful clinical assessment of patients from birth to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d7f653944e1003e3cad0d2d54044ce
https://doi.org/10.1212/01.wnl.0000327822.52212.c7
https://doi.org/10.1212/01.wnl.0000327822.52212.c7
Autor:
Uwe Kornak, Wahid Agab, Marie T. Greally, Kasim Ardati, Sanda Giurgea, Lionel Van Maldergem, Neale N. Kalis
Publikováno v:
American journal of medical genetics. Part A. (5)
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic ski
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e74969b7d9a37a0e2169324f6f3bf196
https://pubmed.ncbi.nlm.nih.gov/24478233
https://pubmed.ncbi.nlm.nih.gov/24478233
Autor:
Patrick Van Bogaert, Corinne Liesnard, Sanda Giurgea, Denis Verheulpen, Philippe David, Pascale Ribaı̈, Georges Rodesch
Publikováno v:
European Journal of Paediatric Neurology. 7:73-75
We report the case of an 18-month-old boy who presented aphasia and right hemiplegia of acute onset. The neurological deficit completely resolved after a few hours, but identical transient neurological deficits and seizures occurred during the follow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9626939169706516b97f73524afc5ea
https://doi.org/10.1016/s1090-3798(03)00016-3
https://doi.org/10.1016/s1090-3798(03)00016-3
Autor:
E. Reynders, Dirk Lefeber, Birgit Budde, Marie T. Greally, Anna Rajab, Eva Seemanova, Memmune Yuksel-Apak, Gert Matthijs, Elisa Leão-Teles, Eva Morava, Laura Vilarinho, William B. Dobyns, Lina Basel-Vanagaite, Jeroen van Reeuwijk, Arti Nanda, Marc Larregue, Lionel Van Maldergem, Zsolt Urban, Ron A. Wevers, Jacqueline Vigneron, Han G. Brunner, Dulce Quelhas, Hans van Bokhoven, Sanda Giurgea, Wim Annaert, Martina Simandlova, Stefan Mundlos, Peter Nürnberg, Aikaterini Dimopoulou, Mustafa A. Salih, François Foulquier, Hülya Kayserili, Bjoern Fischer, Stephanie Gruenewald, Uwe Kornak
Publikováno v:
Nature Genetics, 40, 1, pp. 32-4
Nature Genetics, 40, 32-4
Nature Genetics, 40, 32-4
Contains fulltext : 69837.pdf (Publisher’s version ) (Closed access) We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0984520a74a1ec60520952e911f0a51
https://hdl.handle.net/2066/69837
https://hdl.handle.net/2066/69837
