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A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
Cardaioli E, Da Pozzo P, Malfatti E, Battisti C, Gallus GN, Gaudiano C, Macucci M, Malandrini A, Margollicci M, Rubegni A, Dotti MT, Federico A. Cardaioli E, et al. Among authors: malfatti e. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver K, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL, Clayton JS. Driver K, et al. Among authors: malfatti e. Stem Cell Res. 2023 Dec;73:103258. doi: 10.1016/j.scr.2023.103258. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38029555 Free article.
Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.
Chitimus DM, Berling E, Garderet L, Venturelli N, Malfatti E, Authier FJ, Nicolas G, Laforêt P, Lefeuvre C. Chitimus DM, et al. Among authors: malfatti e. Eur J Neurol. 2023 Mar;30(3):745-748. doi: 10.1111/ene.15640. Epub 2022 Nov 28. Eur J Neurol. 2023. PMID: 36403110 Free PMC article.
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: malfatti e. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J. Brande LV, et al. Among authors: malfatti e. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: malfatti e. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A. Da Pozzo P, et al. Among authors: malfatti e. Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18. Eur J Hum Genet. 2009. PMID: 19223931 Free PMC article.
136 results