Van Coster R - Search Results

1

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.

Irobi J, Holmgren A, De Winter V, Asselbergh B, Gettemans J, Adriaensen D, Ceuterick-de Groote C, Van Coster R, De Jonghe P, Timmerman V. Irobi J, et al. Among authors: van coster r. Neuromuscul Disord. 2012 Aug;22(8):699-711. doi: 10.1016/j.nmd.2012.04.005. Epub 2012 May 15. Neuromuscul Disord. 2012. PMID: 22595202

2

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Vanlander AV, Muiño Mosquera L, Panzer J, Deconinck T, Smet J, Seneca S, Van Dorpe J, Ferdinande L, Ceuterick-de Groote C, De Jonghe P, Van Coster R, Baets J. Vanlander AV, et al. Among authors: van dorpe j, van coster r. Mitochondrion. 2016 Mar;27:32-8. doi: 10.1016/j.mito.2016.02.001. Epub 2016 Feb 23. Mitochondrion. 2016. PMID: 26855408

3

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: van coster r, van hul m, van den bergh p. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318

4

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.

Buysse K, Vergult S, Mussche S, Ceuterick-de Groote C, Speleman F, Menten B, Lissens W, Van Coster R. Buysse K, et al. Among authors: van coster r. Am J Med Genet A. 2010 Nov;152A(11):2802-4. doi: 10.1002/ajmg.a.33508. Am J Med Genet A. 2010. PMID: 20949505

5

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Guillemyn B, De Jaegere S, Coppieters F, Van Coster R, Leroy BP, De Baere E. Bauwens M, et al. Among authors: van coster r. Clin Genet. 2020 Mar;97(3):426-436. doi: 10.1111/cge.13673. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31721179 Free PMC article.

6

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Weckhuysen S, et al. Among authors: van coster r. Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. Neurology. 2013. PMID: 24107868 Free PMC article.

7

Morphological spectrum and clinical features of myopathies with tubular aggregates.

Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG. Funk F, et al. Among authors: van coster r, van maldergem l. Histol Histopathol. 2013 Aug;28(8):1041-54. doi: 10.14670/HH-28.1041. Epub 2013 Mar 12. Histol Histopathol. 2013. PMID: 23479431

8

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P. Deprez L, et al. Among authors: van dyck t, van coster r. Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf. Neurology. 2010. PMID: 20876469

9

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.

Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P. Dermaut B, et al. Among authors: van paesschen w, van coster r. J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3. doi: 10.1136/jnnp.2008.157354. J Neurol Neurosurg Psychiatry. 2010. PMID: 20019223

10

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote C, Lissens W, Van Coster R. Seneca S, et al. Among authors: van coster r. Arch Neurol. 2001 Jul;58(7):1113-8. doi: 10.1001/archneur.58.7.1113. Arch Neurol. 2001. PMID: 11448301 Review.

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