Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marleen Gijzen"'
Autor:
Sean W. Willemse, Kit C. B. Roes, Philip Van Damme, Orla Hardiman, Caroline Ingre, Monica Povedano, Naomi R. Wray, Marleen Gijzen, Mirjam S. de Pagter, Koen C. Demaegd, Annemarie F. C. Janse, Roel G. Vink, Boudewijn T. H. M. Sleutjes, Adriano Chiò, Philippe Corcia, Evy Reviers, Ammar Al-Chalabi, Matthew C. Kiernan, Leonard H. van den Berg, Michael A. van Es, Ruben P. A. van Eijk
Publikováno v:
Trials, Vol 23, Iss 1, Pp 1-18 (2022)
Abstract Background Given the large genetic heterogeneity in amyotrophic lateral sclerosis (ALS), it seems likely that genetic subgroups may benefit differently from treatment. An exploratory meta-analysis identified that patients homozygous for the
Externí odkaz:
https://doaj.org/article/30fbd5e916074b949d8c09f8b72ea468
Autor:
Gijs H.P. Tazelaar, Paul J. Hop, Meinie Seelen, Joke J.F.A. van Vugt, Wouter van Rheenen, Lindy Kool, Kristel R. van Eijk, Marleen Gijzen, Dennis Dooijes, Matthieu Moisse, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Angelica Nordin, Jesus S. Mora Pardina, John Ravits, Ammar Al-Chalabi, Adriano Chio, Russell L. McLaughlin, Orla Hardiman, Philip Van Damme, Mamede de Carvalho, Christoph Neuwirth, Markus Weber, Peter M Andersen, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es
© 2022 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license.
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases a
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e136e7aceb30a75736cbb9b44899449e
https://hdl.handle.net/10451/55900
https://hdl.handle.net/10451/55900
Autor:
Marloes Stam, Marleen Gijzen, W-Ludo van der Pol, Renske I. Wadman, Dennis Dooijes, Marja A.G.C. Schoenmakers, Camiel A. Wijngaarde, Henny H. Lemmink, Kees P.J. Braun, Leonard H. van den Berg, Irina N. Snoeck
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry, 88(4), 364-367. BMJ PUBLISHING GROUP
Proximal hereditary spinal muscular atrophy (SMA) is caused by homozygous deletion of the survival motor neuron (SMN) 1 gene and has a wide range of severity.1 Onset may occur prenatally up to the fourth decade of life, and motor deficits range from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c446235680dc9ad4c627050eddce41
https://research.rug.nl/en/publications/9e8541c2-763f-4ccc-929a-86ffa5a26b4a
https://research.rug.nl/en/publications/9e8541c2-763f-4ccc-929a-86ffa5a26b4a
Autor:
Edward Blair, Marc C van Tuil, Ariana Kariminejad, Denny Schanze, Hans Kristian Ploos van Amstel, Phillip Cox, Mieke M. van Haelst, Marleen Gijzen, Siavash Ghaderi-Sohi, Martin Zenker, Patrick van Zon, Louise Brueton, Peter J. Scambler, Maartje J Vogel
Publikováno v:
Vogel, M J, van Zon, P, Brueton, L, Gijzen, M, van Tuil, M, Cox, P, Schanze, D, Kariminejad, A, Ghaderi-Sohi, S, Blair, E, Zenker, M, Scambler, P J, Ploos van Amstel, H K & van Haelst, MM 2012, ' Mutations in GRIP1 Cause Fraser Syndrome ', Journal of Medical Genetics, pp. 303-6 .
Journal of Medical Genetics, 303-6. BMJ Publishing Group
STARTPAGE=303;ENDPAGE=6;ISSN=0022-2593;TITLE=Journal of Medical Genetics
Journal of medical genetics, 49(5), 303-306. BMJ Publishing Group
Journal of Medical Genetics, 303-6. BMJ Publishing Group
STARTPAGE=303;ENDPAGE=6;ISSN=0022-2593;TITLE=Journal of Medical Genetics
Journal of medical genetics, 49(5), 303-306. BMJ Publishing Group
Background: Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically heterogeneous condition. Thus far, mutations in FRAS1 and FREM2 have been identif