Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Chantal Ceuterick-de Groote"'
Autor:
Stephan Storch, Brecht Guillemyn, Bart P. Leroy, Miriam Bauwens, Rudy Van Coster, Elfride De Baere, Frauke Coppieters, Nicole Weisschuh, Sarah De Jaegere, Chantal Ceuterick-de Groote, Riet De Rycke
Publikováno v:
CLINICAL GENETICS
Clinical genetics
Clinical Genetics
Clinical genetics
Clinical Genetics
Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. Here, we fun
Autor:
Chantal Ceuterick-de Groote, Martin Lammens, D. Van Melkebeke, C Coomans, Anne Sieben, Ingeborg Goethals, C Vandenbroecke, Dimitri Hemelsoet
Publikováno v:
Acta neurologica Belgica
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases
Autor:
Chantal Ceuterick-de Groote, Anne Sieben, Samuel F. Berkovic, Helena Hůlková, Radoslav Matej, Christine Van Broeckhoven, Patrick Santens, Bart Dermaut, Anna Pristoupilova, Sara Van Mossevelde, Stanislav Kmoch, Jelle van den Ameele, Alfred Meurs, Ivana Jedličková
Publikováno v:
Neurology
BackgroundThe progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a9961715aec7434c9a4ea72d7d4bc4
https://hdl.handle.net/20.500.14017/ed55d44c-b96b-4da8-9d65-0b9e465285b4
https://hdl.handle.net/20.500.14017/ed55d44c-b96b-4da8-9d65-0b9e465285b4
Autor:
Tino Hochepied, Delphine Bouhy, Bob Asselbergh, Vicky De Winter, Anne Holmgren, Chantal Ceuterick-de Groote, Claude Libert, Joachim Weis, Steven Goossens, Joy Irobi, Vincent Timmerman, Jody J. Haigh, Manisha Juneja, Istvan Katona
Publikováno v:
Acta neuropathologica 135(1), 131-148 (2018). doi:10.1007/s00401-017-1756-0
Acta neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica
Acta neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica
Acta neuropathologica 135(1), 131-148 (2018). doi:10.1007/s00401-017-1756-0
Published by Springer, Berlin ; Heidelberg
Published by Springer, Berlin ; Heidelberg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056f9002986f762c4aa0d5c82aa0a9bf
Autor:
Jelle, van den Ameele, Ivana, Jedlickova, Anna, Pristoupilova, Anne, Sieben, Sara, Van Mossevelde, Chantal, Ceuterick-de Groote, Helena, Hůlková, Radoslav, Matej, Alfred, Meurs, Christine, Van Broeckhoven, Samuel F, Berkovic, Patrick, Santens, Stanislav, Kmoch, Bart, Dermaut
Publikováno v:
Neurology. 90(8)
The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation.To identify the causative mutation in a Belgian family where the
Autor:
Hans Wils, Samir Kumar-Singh, Chantal Ceuterick-de Groote, Geert Joris, Ivy Cuijt, Jonathan Janssens, Gernot Kleinberger, Christine Van Broeckhoven
Publikováno v:
Molecular Neurobiology
Molecular neurobiology
Molecular neurobiology
Mutations in TAR DNA-binding protein 43 (TDP-43) are associated with familial forms of amyotrophic lateral sclerosis (ALS), while wild-type TDP-43 is a pathological hallmark of patients with sporadic ALS and frontotemporal lobar degeneration (FTLD).
Autor:
Chantal Ceuterick-de Groote, Hans W.M. Niessen, Marianna Bugiani, Hannah S. Bakels, Saskia A J Lesnik Oberstein, Marjo S. van der Knaap, Sietske H. Kevelam, Quinten Waisfisz, Truus E.M. Abbink
Publikováno v:
Neurology, 87(17), 1777-1786. Lippincott Williams and Wilkins
Neurology
Bugiani, M, Kevelam, S H, Bakels, H S, Waisfisz, Q, Ceuterick-de Groote, C, Niessen, H W M, Abbink, T E M, Oberstein, S A M J L & van der Knaap, M S 2016, ' Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) ', Neurology, vol. 87, no. 17, pp. 1777-1786 . https://doi.org/10.1212/WNL.0000000000003251
Neurology
Bugiani, M, Kevelam, S H, Bakels, H S, Waisfisz, Q, Ceuterick-de Groote, C, Niessen, H W M, Abbink, T E M, Oberstein, S A M J L & van der Knaap, M S 2016, ' Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) ', Neurology, vol. 87, no. 17, pp. 1777-1786 . https://doi.org/10.1212/WNL.0000000000003251
OBJECTIVE: To characterize the clinical and MRI features of 2 families with adult-onset dominant leukoencephalopathy and strokes and identify the underlying genetic cause.METHODS: We applied MRI pattern recognition, whole-exome sequencing, and neurop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f287f88cd971fdbb1ca01fff9bdc01d3
https://research.vumc.nl/en/publications/343f8486-aae1-47cc-86c7-d0c5d67ac15c
https://research.vumc.nl/en/publications/343f8486-aae1-47cc-86c7-d0c5d67ac15c
Autor:
Chantal Ceuterick-de Groote, Laura Muiño Mosquera, Arnaud Vanlander, Jonathan Baets, Joél Smet, Sara Seneca, Liesbeth Ferdinande, Tine Deconinck, Joseph Panzer, Jo Van Dorpe, Peter De Jonghe, Rudy Van Coster
Publikováno v:
Mitochondrion
Megaconial congenital muscular dystrophy is a disease caused by pathogenic mutations in the gene encoding choline kinase beta (CHKB). Microscopically, the disease is hallmarked by the presence of enlarged mitochondria at the periphery of skeletal mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70eeeb5ce010d47b09e0bea2ea1795b
https://doi.org/10.1016/j.mito.2016.02.001
https://doi.org/10.1016/j.mito.2016.02.001
Autor:
Khalid Hamid El Hachimi, Tine Deconinck, Alessandro Malandrini, Jean Jacques Martin, Giovanni Stevanin, Anne Sieben, Alexis Brice, Michael Gonzales, Federica Zolfanelli, Stephan Züchner, Peter De Jonghe, Carlo Casali, Frédéric Darios, Chantal Ceuterick-de Groote, Filippo M. Santorelli, Paola S. Denora, Dirk Peeters, Katrien Smets
Publikováno v:
Brain
The most common autosomal recessive spastic paraplegia is caused by mutations in SPG11. Denora et al. report the first postmortem neuropathological analysis of two unrelated patients with SPG11, and demonstrate clinical and pathological overlap betwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b428b958b294b1b21cd6136d4fa79bbc
http://hdl.handle.net/11365/998591
http://hdl.handle.net/11365/998591
Autor:
Peter De Jonghe, Bob Asselbergh, Rudy Van Coster, Vincent Timmerman, Dirk Adriaensen, Joy Irobi, Chantal Ceuterick-de Groote, Vicky De Winter, Anne Holmgren, Jan Gettemans
Publikováno v:
Neuromuscular disorders
Missense mutations in the small heat shock protein HSPB8 cause distal hereditary motor neuropathy (dHMN) and axonal Charcot-Marie-Tooth disease (CMT2L). We previously demonstrated that, despite the ubiquitous expression of HSPB8, motor neurons appear