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mitra forouzan[Author]
(1 results)?
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021.
Brain Commun. 2021.
PMID: 34909687
Free PMC article.
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
Forouhan M, Lim WF, Zanetti-Domingues LC, Tynan CJ, Roberts TC, Malik B, Manzano R, Speciale AA, Ellerington R, Garcia-Guerra A, Fratta P, Sorarú G, Greensmith L, Pennuto M, Wood MJA, Rinaldi C.
Forouhan M, et al.
Acta Neuropathol. 2022 Jun;143(6):713-731. doi: 10.1007/s00401-022-02428-1. Epub 2022 May 6.
Acta Neuropathol. 2022.
PMID: 35522298
Free PMC article.
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Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C.
Lim WF, et al. Among authors: forouhan m.
Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. Print 2021 Aug.
Sci Adv. 2021.
PMID: 34417184
Free PMC article.
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Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.
Mullan LA, Mularczyk EJ, Kung LH, Forouhan M, Wragg JM, Goodacre R, Bateman JF, Swanton E, Briggs MD, Boot-Handford RP.
Mullan LA, et al. Among authors: forouhan m.
J Clin Invest. 2017 Oct 2;127(10):3861-3865. doi: 10.1172/JCI93094. Epub 2017 Sep 18.
J Clin Invest. 2017.
PMID: 28920921
Free PMC article.
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Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
Forouhan M, Sonntag S, Boot-Handford RP.
Forouhan M, et al.
Hum Mol Genet. 2018 Nov 15;27(22):3840-3853. doi: 10.1093/hmg/ddy253.
Hum Mol Genet. 2018.
PMID: 30010889
Free PMC article.
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Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM.
Antony D, et al. Among authors: forouhan m.
Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11.
Hum Mutat. 2013.
PMID: 23255504
Free PMC article.
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