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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: barresi r. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: barresi r. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: barresi r. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406
Prospective Role of PAK6 and 14-3-3γ as Biomarkers for Parkinson's Disease.
Giusto E, Maistrello L, Iannotta L, Giusti V, Iovino L, Bandopadhyay R, Antonini A, Bubacco L, Barresi R, Plotegher N, Greggio E, Civiero L. Giusto E, et al. Among authors: barresi r. J Parkinsons Dis. 2024;14(3):495-506. doi: 10.3233/JPD-230402. J Parkinsons Dis. 2024. PMID: 38640169
Prediction of rehabilitation induced motor recovery after stroke using a multi-dimensional and multi-modal approach.
Salvalaggio S, Turolla A, Andò M, Barresi R, Burgio F, Busan P, Cortese AM, D'Imperio D, Danesin L, Ferrazzi G, Maistrello L, Mascotto E, Parrotta I, Pezzetta R, Rigon E, Vedovato A, Zago S, Zorzi M, Arcara G, Mantini D, Filippini N. Salvalaggio S, et al. Among authors: barresi r. Front Aging Neurosci. 2023 Jul 4;15:1205063. doi: 10.3389/fnagi.2023.1205063. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37469951 Free PMC article.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G. Folland C, et al. Among authors: barresi r. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12846. doi: 10.1111/nan.12846. Epub 2022 Aug 20. Neuropathol Appl Neurobiol. 2022. PMID: 35962550
STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.
Riva B, Pessolano E, Quaglia E, Cordero-Sanchez C, Bhela IP, Topf A, Serafini M, Cox D, Harris E, Garibaldi M, Barresi R, Pirali T, Genazzani AA. Riva B, et al. Among authors: barresi r. Cell Calcium. 2022 Jul;105:102605. doi: 10.1016/j.ceca.2022.102605. Epub 2022 May 18. Cell Calcium. 2022. PMID: 35636153 Free article.
125 results