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Page 1
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: nibbeling e. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. Cliffe ST, et al. Among authors: nibbeling e. Hum Mol Genet. 2009 Jun 15;18(12):2257-65. doi: 10.1093/hmg/ddp161. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336477
Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V.
Forkink M, Manjeri GR, Liemburg-Apers DC, Nibbeling E, Blanchard M, Wojtala A, Smeitink JA, Wieckowski MR, Willems PH, Koopman WJ. Forkink M, et al. Among authors: nibbeling e. Biochim Biophys Acta. 2014 Aug;1837(8):1247-56. doi: 10.1016/j.bbabio.2014.04.008. Epub 2014 Apr 24. Biochim Biophys Acta. 2014. PMID: 24769419 Free article.
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS. Nibbeling EAR, et al. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Duarri A, et al. Among authors: nibbeling ea. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. PLoS One. 2015. PMID: 25756792 Free PMC article.
Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Huang M, Nibbeling EAR, Lagrand TJ, Souza IA, Groen JL, Gandini MA, Zhang FX, Koelman JHTM, Adir N, Sinke RJ, Zamponi GW, Tijssen MAJ, Verbeek DS. Huang M, et al. Among authors: nibbeling ear. Mol Brain. 2021 Jan 21;14(1):18. doi: 10.1186/s13041-021-00736-3. Mol Brain. 2021. PMID: 33478561 Free PMC article.
Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA, Hoffer MJV, Nibbeling EAR, Bijlsma EK, Toirkens MJP, Adama-Scheltema PN, Verweij EJ, Veenhof MB, Santen GWE, Peeters-Scholte CMPCD. de Koning MA, et al. Among authors: nibbeling ear. Clin Genet. 2022 Jan;101(1):65-77. doi: 10.1111/cge.14070. Epub 2021 Oct 19. Clin Genet. 2022. PMID: 34611884 Free PMC article.
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