Cutrupi AN - Search Results

1

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Drew AP, Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Drew AP, et al. Among authors: cutrupi an. Hum Genet. 2016 Nov;135(11):1269-1278. doi: 10.1007/s00439-016-1720-4. Epub 2016 Aug 3. Hum Genet. 2016. PMID: 27487800

2

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Cutrupi AN, et al. Mol Genet Genomic Med. 2018 May;6(3):422-433. doi: 10.1002/mgg3.390. Epub 2018 Mar 23. Mol Genet Genomic Med. 2018. PMID: 29573232 Free PMC article. Review.

3

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.

Perez-Siles G, Cutrupi A, Ellis M, Kuriakose J, La Fontaine S, Mao D, Uesugi M, Takata RI, Speck-Martins CE, Nicholson G, Kennerson ML. Perez-Siles G, et al. Dis Model Mech. 2020 Jan 13;13(2):dmm041541. doi: 10.1242/dmm.041541. Dis Model Mech. 2020. PMID: 31969342 Free PMC article.

4

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.

Perez-Siles G, Cutrupi A, Ellis M, Screnci R, Mao D, Uesugi M, Yiu EM, Ryan MM, Choi BO, Nicholson G, Kennerson ML. Perez-Siles G, et al. Sci Rep. 2020 Jun 5;10(1):9262. doi: 10.1038/s41598-020-66266-5. Sci Rep. 2020. PMID: 32504000 Free PMC article.

5

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Cutrupi AN, Narayanan RK, Perez-Siles G, Grosz BR, Lai K, Boyling A, Ellis M, Lin RCY, Neumann B, Mao D, Uesugi M, Nicholson GA, Vucic S, Saporta MA, Kennerson ML. Cutrupi AN, et al. Brain. 2023 Mar 1;146(3):880-897. doi: 10.1093/brain/awac424. Brain. 2023. PMID: 36380488 Free PMC article.

6

Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms.

Narayanan RK, Panwar A, Butler TJ, Cutrupi AN, Kennerson M, Vucic S, Ashokkumar B, Mangelsdorf M, Wallace RH. Narayanan RK, et al. Among authors: cutrupi an. MicroPubl Biol. 2023 Mar 14;2023:10.17912/micropub.biology.000777. doi: 10.17912/micropub.biology.000777. eCollection 2023. MicroPubl Biol. 2023. PMID: 37008727 Free PMC article.

7

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

Van Lent J, Prior R, Pérez Siles G, Cutrupi AN, Kennerson ML, Vangansewinkel T, Wolfs E, Mukherjee-Clavin B, Nevin Z, Judge L, Conklin B, Tyynismaa H, Clark AJ, Bennett DL, Van Den Bosch L, Saporta M, Timmerman V. Van Lent J, et al. Among authors: cutrupi an. Exp Mol Med. 2024 Jun;56(6):1348-1364. doi: 10.1038/s12276-024-01250-x. Epub 2024 Jun 3. Exp Mol Med. 2024. PMID: 38825644 Free PMC article. Review.

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