Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

151 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E. Cardone N, et al. Among authors: malfatti e. Acta Neuropathol Commun. 2023 Mar 21;11(1):48. doi: 10.1186/s40478-023-01539-4. Acta Neuropathol Commun. 2023. PMID: 36945066 Free PMC article.
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.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: malfatti e. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 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
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.
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Valente L, et al. Among authors: malfatti e. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160893 Free PMC article.
151 results