Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Iris Smouts"'
Autor:
Chris De Jonghe, Patrick Cras, Hugo Vanderstichele, Marc Cruts, Inge Vanderhoeven, Iris Smouts, Eugeen Vanmechelen, Jean-Jaques Martin, Lydia Hendriks, Christine Van Broeckhoven
Publikováno v:
Neurobiology of Disease, Vol 6, Iss 4, Pp 280-287 (1999)
Mutations in the presenilin 1 (PSEN1) gene are an important cause of autosomal dominant Alzheimer's disease (AD). Both in vitro and in vivo experiments showed that PSEN1 mutations increase secretion of amyloid β42 (Aβ42), the longer and more fibril
Externí odkaz:
https://doaj.org/article/a9df08aa30cf41c8a0b798c4539d248b
Autor:
Jean Jacques Martin, Paul M. Parizel, Peter De Jonghe, Jonathan Baets, Christina Jadoul, Elena I. Rugarli, Franco Taroni, Tine Deconinck, Anne Sieben, Robert De Potter, Wim Van Hecke, Shuaiyu Wang, Daniela Di Bella, Iris Smouts, Francine Couvreur, Katrien Smets
Publikováno v:
Neurology
Objective: To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b0bd1d29870f1fb7d8b9d586a00f275
https://doi.org/10.1212/wnl.0000000000000491
https://doi.org/10.1212/wnl.0000000000000491
Autor:
An-Sofie Schoonjans, Katrien Smets, Zaid Afawi, Lieven Lagae, Thierry Grisar, Gunnar Buyse, Berten Ceulemans, Filip Roelens, Katia Hardies, Ilan Blatt, Sarah Weckhuysen, Rik Hendrickx, Zamir Shorer, Anna Jansen, Peter De Jonghe, Arvid Suls, Kristl G. Claeys, Linda De Meirleir, Marian Y. Girgis, Vic Van den Bergh, Ingo Helbig, Iris Smouts, Philip Holmgren, Tine Van Dyck, Wim Van Paesschen, Laila Selim, Tania Djémié
Publikováno v:
Journal of neurology, neurosurgery and psychiatry
Vrije Universiteit Brussel
Vrije Universiteit Brussel
Background Mutations in the proline-rich transmembrane protein 2 ( PRRT2 ) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0e0f85a70dbe27f18692d77f0f611e
https://biblio.vub.ac.be/vubir/prrt2-mutations-exploring-the-phenotypical-boundaries(1d061c24-3f0b-4d98-9871-4aa92b8bc248).html
https://biblio.vub.ac.be/vubir/prrt2-mutations-exploring-the-phenotypical-boundaries(1d061c24-3f0b-4d98-9871-4aa92b8bc248).html
Autor:
Hugo Vanderstichele, L. Hendriks, Eugeen Vanmechelen, Patrick Cras, Inge Vanderhoeven, Iris Smouts, Jean-Jaques Martin, Chris De Jonghe, Christine Van Broeckhoven, Marc Cruts
Publikováno v:
Neurobiology of disease
Neurobiology of Disease, Vol 6, Iss 4, Pp 280-287 (1999)
Neurobiology of Disease, Vol 6, Iss 4, Pp 280-287 (1999)
Mutations in the presenilin 1 ( PSEN1 ) gene are an important cause of autosomal dominant Alzheimer's disease (AD). Both in vitro and in vivo experiments showed that PSEN1 mutations increase secretion of amyloid β42 (Aβ42), the longer and more fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44dd7ec879b0678f09e4fc5486a71ad0
https://doi.org/10.1006/nbdi.1999.0247
https://doi.org/10.1006/nbdi.1999.0247
Autor:
Jan Wauters, Nina Barišić, Kristl Claeys, Gunnar Buyse, Jurgen Del-Favero, Rob van Luijk, Arvid Suls, Peter De Jonghe, Jean-Paul Misson, Lieven Lagae, Iris Smouts, Berten Ceulemans, Sabine Beeckmans, Boris Harding, Dirk Goossens, Dominique Audenaert, L Claes, Stefaan Scheers, Tine Van Dyck, Liesbet Deprez
Publikováno v:
Human mutation
Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel α-subunit gene (SCN1A) have been identified. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00b618b8406f0d8105c57476dfbf4c38
https://pubmed.ncbi.nlm.nih.gov/16865694
https://pubmed.ncbi.nlm.nih.gov/16865694
Autor:
A. Pou-Serradell, J. J. Martin, Alice K. Jacobs, Katrien Coen, Iris Smouts, Kristien Verhoeven, E. De Vriendt, V. Van Gerwen, Vincent Timmerman, P. De Jonghe
Publikováno v:
Neurology. 62:1001-1002
Hereditary sensory neuropathy type I (HSN I) is an autosomal dominant ulceromutilating disorder of the peripheral nervous system characterized by progressive sensory loss. HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824949525603c4e17b2ef0bd2612de70
https://doi.org/10.1212/01.wnl.0000115388.10828.5c
https://doi.org/10.1212/01.wnl.0000115388.10828.5c