Ceuterick-de Groote C - Search Results

1

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. 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

2

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. Arch Neurol. 2001 Jul;58(7):1113-8. doi: 10.1001/archneur.58.7.1113. Arch Neurol. 2001. PMID: 11448301 Review.

3

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: ceuterick de groote c. 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.

4

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. 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

5

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: ceuterick de groote c. Mitochondrion. 2016 Mar;27:32-8. doi: 10.1016/j.mito.2016.02.001. Epub 2016 Feb 23. Mitochondrion. 2016. PMID: 26855408

6

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: 10.1016/j.nmd.2007.02.015. Epub 2007 Apr 16. Neuromuscul Disord. 2007. PMID: 17434307

7

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.

Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ. Ceuterick-de Groote C, et al. Pathol Res Pract. 2001;197(3):193-8. doi: 10.1078/0344-0338-00033. Pathol Res Pract. 2001. PMID: 11314784

8

Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

Scalais E, Connerotte AC, Despontin K, Biver A, Ceuterick-de Groote C, Alders M, Kolivras A, Hachem JP, De Meirleir L. Scalais E, et al. Among authors: ceuterick de groote c. Am J Med Genet A. 2016 Jul;170(7):1799-805. doi: 10.1002/ajmg.a.37673. Epub 2016 Apr 29. Am J Med Genet A. 2016. PMID: 27127007

9

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. Histol Histopathol. 2013 Aug;28(8):1041-54. doi: 10.14670/HH-28.1041. Epub 2013 Mar 12. Histol Histopathol. 2013. PMID: 23479431

10

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Verpoorten N, et al. Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373086

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