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746 results

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: martin jj. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C. Brouwers N, et al. Among authors: martin jj. Neurology. 2008 Aug 26;71(9):656-64. doi: 10.1212/01.wnl.0000319688.89790.7a. Epub 2008 Jun 18. Neurology. 2008. PMID: 18565828
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C. van der Zee J, et al. Among authors: martin jj. Neurology. 2009 Aug 25;73(8):626-32. doi: 10.1212/WNL.0b013e3181b389d9. Neurology. 2009. PMID: 19704082 Clinical Trial.
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: martin jj. Mol Psychiatry. 2016 Aug;21(8):1112-24. doi: 10.1038/mp.2015.159. Epub 2015 Oct 20. Mol Psychiatry. 2016. PMID: 26481318 Free PMC article.
Charcot joint in idiopathic sensorimotor neuropathy.
Chappel R, Willems J, Martin JJ. Chappel R, et al. Among authors: martin jj. Clin Rheumatol. 2000;19(2):153-5. doi: 10.1007/s100670050036. Clin Rheumatol. 2000. PMID: 10791630
Phosphorylated tau in cerebrospinal fluid as a marker for Creutzfeldt-Jakob disease.
Van Everbroeck B, Green AJ, Vanmechelen E, Vanderstichele H, Pals P, Sanchez-Valle R, Corrales NC, Martin JJ, Cras P. Van Everbroeck B, et al. Among authors: martin jj. J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):79-81. doi: 10.1136/jnnp.73.1.79. J Neurol Neurosurg Psychiatry. 2002. PMID: 12082054 Free PMC article.
746 results