Publicaties in de kijker

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Bauwens Miriam   Storch Stephan   Weisschuh Nicole   Ceuterick-de Groote Chantal   De Rycke Riet   Guillemyn Brecht   De Jaegere Sarah   Coppieters Frauke   Van Coster Rudy   Leroy Bart P.   De Baere Elfride  
Clinical genetics - ISSN 0009-9163-
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A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
Bouhy Delphine   Juneja Manisha   Katona Istvan   Holmgren Anne   Asselbergh Bob   De Winter Vicky   Hochepied Tino   Goossens Steven   Haigh Jody J.   Libert Claude   Ceuterick-de Groote Chantal   Irobi Joy   Weis Joachim   Timmerman Vincent  
Acta neuropathologica - ISSN 0001-6322-135:1 (2018) p. 131-148
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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
van den Ameele Jelle   Jedlickova Ivana   Pristoupilova Anna   Sieben Anne   Van Mossevelde Sara   Ceuterick-de Groote Chantal   Hulkova Helena   Matej Radoslav   Meurs Alfred   Van Broeckhoven Christine   Berkovic Samuel F.   Santens Patrick   Kmoch Stanislav   Dermaut Bart  
Neurology - ISSN 0028-3878-90:8 (2018) p. E658-E663
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Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease
Coomans C.   Sieben Anne   Lammens Martin   Ceuterick-de Groote Chantal   Vandenbroecke C.   Goethals I.   Van Melkebeke D.   Hemelsoet D.  
Acta neurologica Belgica - ISSN 0300-9009-118:4 (2018) p. 607-615
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
Vanlander Arnaud V.   Mosquera Laura Muino   Panzer Joseph   Deconinck Tine   Smet Joel   Seneca Sara   Van Dorpe Jo   Ferdinande Liesbeth   Ceuterick-de Groote Chantal   De Jonghe Peter   Van Coster Rudy   Baets Jonathan  
Mitochondrion - ISSN 1567-7249-27 (2016) p. 32-38
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