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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: marchi m. Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343. Brain. 2017. PMID: 28073787
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM. Eijkenboom I, et al. Among authors: marchi m. J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):342-352. doi: 10.1136/jnnp-2018-319042. Epub 2018 Dec 15. J Neurol Neurosurg Psychiatry. 2019. PMID: 30554136 Free article.
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.
Marchi M, Salvi E, Andelic M, Mehmeti E, D'Amato I, Cazzato D, Chiappori F, Lombardi R, Cartelli D, Devigili G, Dalla Bella E, Gerrits M, Almomani R, Malik RA, Ślęczkowska M, Mazzeo A, Gentile L, Dib-Hajj S, Waxman SG, Faber CG, Vecchio E, de Tommaso M, Lauria G. Marchi M, et al. Pain. 2023 Sep 1;164(9):2048-2059. doi: 10.1097/j.pain.0000000000002905. Epub 2023 Apr 19. Pain. 2023. PMID: 37079850 Free PMC article.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: marchi m. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
816 results