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Year | Number of Results |
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2020 | 2 |
2021 | 4 |
2023 | 1 |
2024 | 1 |
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Page 1
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.
Gene. 2024 Mar 20;899:148119. doi: 10.1016/j.gene.2023.148119. Epub 2023 Dec 29.
Gene. 2024.
PMID: 38160741
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y.
Tremblay-Laganière C, et al. Among authors: christoforou m.
Genet Med. 2021 Oct;23(10):1873-1881. doi: 10.1038/s41436-021-01215-9. Epub 2021 Jun 10.
Genet Med. 2021.
PMID: 34113002
Free PMC article.
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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, Zaki MS, Gleeson JG, Campeau PM, Russell BE, Houlden H.
Efthymiou S, et al. Among authors: christoforou m.
Epilepsia. 2021 Feb;62(2):e35-e41. doi: 10.1111/epi.16801. Epub 2021 Jan 7.
Epilepsia. 2021.
PMID: 33410539
Free PMC article.
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Systems level profiling of chemotherapy-induced stress resolution in cancer cells reveals druggable trade-offs.
Saavedra-García P, Roman-Trufero M, Al-Sadah HA, Blighe K, López-Jiménez E, Christoforou M, Penfold L, Capece D, Xiong X, Miao Y, Parzych K, Caputo VS, Siskos AP, Encheva V, Liu Z, Thiel D, Kaiser MF, Piazza P, Chaidos A, Karadimitris A, Franzoso G, Snijders AP, Keun HC, Oyarzún DA, Barahona M, Auner HW.
Saavedra-García P, et al. Among authors: christoforou m.
Proc Natl Acad Sci U S A. 2021 Apr 27;118(17):e2018229118. doi: 10.1073/pnas.2018229118.
Proc Natl Acad Sci U S A. 2021.
PMID: 33883278
Free PMC article.
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Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A; SYNAPS Study Group; Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A.
De Nittis P, et al. Among authors: christoforou m.
J Med Genet. 2021 Dec;58(12):815-831. doi: 10.1136/jmedgenet-2020-107015. Epub 2020 Nov 10.
J Med Genet. 2021.
PMID: 33172956
Free PMC article.
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Energetic, antioxidant, inflammatory and cell death responses in the red muscle of thermally stressed Sparus aurata.
Feidantsis K, Georgoulis I, Zachariou A, Campaz B, Christoforou M, Pörtner HO, Michaelidis B.
Feidantsis K, et al. Among authors: christoforou m.
J Comp Physiol B. 2020 Jul;190(4):403-418. doi: 10.1007/s00360-020-01278-1. Epub 2020 Apr 25.
J Comp Physiol B. 2020.
PMID: 32335741
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