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Page 1
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: udd b. 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.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J. Lehtonen J, et al. Among authors: udd b. Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4. Sci Rep. 2024. PMID: 38383731 Free PMC article.
Correction to: 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: udd b. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: udd b. medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671. medRxiv. 2024. PMID: 38293186 Free PMC article. Preprint.
Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva.
Marcello M, Cetrangolo V, Morotti I, Squarci C, Caremani M, Reconditi M, Savarese M, Bianco P, Piazzesi G, Lombardi V, Udd B, Conte I, Nigro V, Linari M. Marcello M, et al. Among authors: udd b. Am J Physiol Cell Physiol. 2024 Feb 1;326(2):C632-C644. doi: 10.1152/ajpcell.00530.2023. Epub 2023 Dec 25. Am J Physiol Cell Physiol. 2024. PMID: 38145303
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: udd b. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. Neuromuscul Disord. 2024. PMID: 38142473 Free article.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: udd b. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
310 results