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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A. Guergueltcheva V, et al. Among authors: martin jj. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Smets K, Deconinck T, Baets J, Sieben A, Martin JJ, Smouts I, Wang S, Taroni F, Di Bella D, Van Hecke W, Parizel PM, Jadoul C, De Potter R, Couvreur F, Rugarli E, De Jonghe P. Smets K, et al. Among authors: martin jj. Neurology. 2014 Jun 10;82(23):2092-100. doi: 10.1212/WNL.0000000000000491. Epub 2014 May 9. Neurology. 2014. PMID: 24814845
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P. Verhoeven K, et al. Among authors: martin jj. Neurology. 2004 Mar 23;62(6):1001-2. doi: 10.1212/01.wnl.0000115388.10828.5c. Neurology. 2004. PMID: 15037712
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Philtjens S, Heeman B, Engelborghs S, Vandenbulcke M, De Baets G, Bäumer V, Cuijt I, Van den Broeck M, Peeters K, Mattheijssens M, Rousseau F, Vandenberghe R, De Jonghe P, Cras P, De Deyn PP, Martin JJ, Cruts M, Van Broeckhoven C; BELNEU Consortium. Gijselinck I, et al. Among authors: martin jj. Neurology. 2015 Dec 15;85(24):2116-25. doi: 10.1212/WNL.0000000000002220. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581300 Free PMC article.
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.
Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, Vandenberghe R, De Jonghe P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology consortium. Van Mossevelde S, et al. Among authors: martin jj. Brain. 2016 Feb;139(Pt 2):452-67. doi: 10.1093/brain/awv358. Epub 2015 Dec 15. Brain. 2016. PMID: 26674655 Free PMC article.
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.
Van Mossevelde S, van der Zee J, Gijselinck I, Sleegers K, De Bleecker J, Sieben A, Vandenberghe R, Van Langenhove T, Baets J, Deryck O, Santens P, Ivanoiu A, Willems C, Bäumer V, Van den Broeck M, Peeters K, Mattheijssens M, De Jonghe P, Cras P, Martin JJ, Cruts M, De Deyn PP, Engelborghs S, Van Broeckhoven C; Belgian Neurology (BELNEU) Consortium. Van Mossevelde S, et al. Among authors: martin jj. JAMA Neurol. 2017 Apr 1;74(4):445-452. doi: 10.1001/jamaneurol.2016.4847. JAMA Neurol. 2017. PMID: 28192553
743 results