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Page 1
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, Carducci C, van den Heuvel LP, Pizzi S, Bruselles A, Niceta M, Martinelli S, Rodenburg RJ, Tartaglia M, Leuzzi V. Galosi S, et al. Mov Disord. 2024 Apr 30. doi: 10.1002/mds.29795. Online ahead of print. Mov Disord. 2024. PMID: 38685873
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Galosi S, Novelli M, Di Rocco M, Flex E, Messina E, Pollini L, Parrini E, Pisani F, Guerrini R, Leuzzi V, Martinelli S. Galosi S, et al. Mov Disord. 2023 Dec;38(12):2313-2314. doi: 10.1002/mds.29585. Epub 2023 Aug 26. Mov Disord. 2023. PMID: 37632268 No abstract available.
Experimental pharmacology: Targeting metabolic pathways.
Leuzzi V, Galosi S. Leuzzi V, et al. Among authors: galosi s. Int Rev Neurobiol. 2023;169:259-315. doi: 10.1016/bs.irn.2023.05.005. Epub 2023 Jul 11. Int Rev Neurobiol. 2023. PMID: 37482395 Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
Pannone L, Muto V, Nardecchia F, Di Rocco M, Marchei E, Tosato F, Petrini S, Onorato G, Lanza E, Bertuccini L, Manti F, Folli V, Galosi S, Di Schiavi E, Leuzzi V, Tartaglia M, Martinelli S. Pannone L, et al. Among authors: galosi s. Front Mol Neurosci. 2023 May 31;16:1170061. doi: 10.3389/fnmol.2023.1170061. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37324589 Free PMC article.
44 results