Dermaut B - Search Results

1

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C. Van Goethem G, et al. Among authors: dermaut b. Neuromuscul Disord. 2003 Feb;13(2):133-42. doi: 10.1016/s0960-8966(02)00216-x. Neuromuscul Disord. 2003. PMID: 12565911

2

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Van Goethem G, et al. Among authors: dermaut b. Eur J Hum Genet. 2003 Jul;11(7):547-9. doi: 10.1038/sj.ejhg.5201002. Eur J Hum Genet. 2003. PMID: 12825077

3

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Among authors: dermaut b. Nat Genet. 2001 Jul;28(3):211-2. doi: 10.1038/90034. Nat Genet. 2001. PMID: 11431686

4

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Among authors: dermaut b. Hum Mutat. 2003 Aug;22(2):175-6. doi: 10.1002/humu.10246. Hum Mutat. 2003. PMID: 12872260 No abstract available.

5

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Dermaut B, Kumar-Singh S, De Jonghe C, Cruts M, Löfgren A, Lübke U, Cras P, Dom R, De Deyn PP, Martin JJ, Van Broeckhoven C. Dermaut B, et al. Brain. 2001 Dec;124(Pt 12):2383-92. doi: 10.1093/brain/124.12.2383. Brain. 2001. PMID: 11701593

6

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, De Deyn PP. Dermaut B, et al. Ann Neurol. 2004 May;55(5):617-26. doi: 10.1002/ana.20083. Ann Neurol. 2004. PMID: 15122701

7

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion.

Dermaut B, Cruts M, Backhovens H, Lübke U, Van Everbroeck B, Sciot R, Dom R, Martin JJ, Van Broeckhoven C, Cras P. Dermaut B, et al. J Neurol. 2000 May;247(5):364-8. doi: 10.1007/s004150050603. J Neurol. 2000. PMID: 10896268

8

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B. van der Zee J, et al. Among authors: dermaut b. Brain. 2006 Apr;129(Pt 4):841-52. doi: 10.1093/brain/awl029. Epub 2006 Feb 22. Brain. 2006. PMID: 16495329

9

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family.

Pirici D, Vandenberghe R, Rademakers R, Dermaut B, Cruts M, Vennekens K, Cuijt I, Lübke U, Ceuterick C, Martin JJ, Van Broeckhoven C, Kumar-Singh S. Pirici D, et al. Among authors: dermaut b. J Neuropathol Exp Neurol. 2006 Mar;65(3):289-301. doi: 10.1097/01.jnen.0000205147.39210.c7. J Neuropathol Exp Neurol. 2006. PMID: 16651890

10

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. van der Zee J, et al. Among authors: dermaut b. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484. Hum Mutat. 2007. PMID: 17345602

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