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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M, Meijer RPP, Gerrits M, Janssen J, Pfundt R, de Leeuw N, Gilissen C, Gardeitchik T, Schouten M, Voermans N, van de Warrenburg B, Kamsteeg EJ. Pennings M, et al. Among authors: gerrits m. Eur J Hum Genet. 2023 Jun;31(6):654-662. doi: 10.1038/s41431-023-01312-0. Epub 2023 Feb 13. Eur J Hum Genet. 2023. PMID: 36781956 Free PMC article.
Genetic aspects of sodium channelopathy in small fiber neuropathy.
Hoeijmakers JG, Merkies IS, Gerrits MM, Waxman SG, Faber CG. Hoeijmakers JG, et al. Among authors: gerrits mm. Clin Genet. 2012 Oct;82(4):351-8. doi: 10.1111/j.1399-0004.2012.01937.x. Epub 2012 Aug 7. Clin Genet. 2012. PMID: 22803682 Review.
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Almomani R, Sopacua M, Marchi M, Ślęczkowska M, Lindsey P, de Greef BTA, Hoeijmakers JGJ, Salvi E, Merkies ISJ, Ferdousi M, Malik RA, Ziegler D, Derks KWJ, Boenhof G, Martinelli-Boneschi F, Cazzato D, Lombardi R, Dib-Hajj S, Waxman SG, Smeets HJM, Gerrits MM, Faber CG, Lauria G, On Behalf Of The Propane Study Group. Almomani R, et al. Among authors: gerrits mm. Int J Mol Sci. 2023 May 5;24(9):8278. doi: 10.3390/ijms24098278. Int J Mol Sci. 2023. PMID: 37175987 Free PMC article.
Ion Channel Genes in Painful Neuropathies.
Ślęczkowska M, Misra K, Santoro S, Gerrits MM, Hoeijmakers JGJ; PainNet Study Group. Ślęczkowska M, et al. Among authors: gerrits mm. Biomedicines. 2023 Sep 29;11(10):2680. doi: 10.3390/biomedicines11102680. Biomedicines. 2023. PMID: 37893054 Free PMC article. Review.
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
de Greef BT, Hoeijmakers JG, Wolters EE, Smeets HJ, van den Wijngaard A, Merkies IS, Faber CG, Gerrits MM. de Greef BT, et al. Among authors: gerrits mm. PLoS One. 2016 Feb 11;11(2):e0148316. doi: 10.1371/journal.pone.0148316. eCollection 2016. PLoS One. 2016. PMID: 26866599 Free PMC article.
Painful neuropathies: the emerging role of sodium channelopathies.
Brouwer BA, Merkies IS, Gerrits MM, Waxman SG, Hoeijmakers JG, Faber CG. Brouwer BA, et al. Among authors: gerrits mm. J Peripher Nerv Syst. 2014 Jun;19(2):53-65. doi: 10.1111/jns5.12071. J Peripher Nerv Syst. 2014. PMID: 25250524 Review.
COL6A5 variants in familial neuropathic chronic itch.
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network; Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. Martinelli-Boneschi F, et al. Among authors: gerrits mm. Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343. Brain. 2017. PMID: 28073787
175 results