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2023 8
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Page 1
Current advance on distal myopathy genetics.
Ranta-Aho J, Johari M, Udd B. Ranta-Aho J, et al. Curr Opin Neurol. 2024 Oct 1;37(5):515-522. doi: 10.1097/WCO.0000000000001299. Epub 2024 Jul 16. Curr Opin Neurol. 2024. PMID: 39017652 Free PMC article. Review.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Bortolani S, et al. Neurology. 2024 Aug 27;103(4):e209697. doi: 10.1212/WNL.0000000000209697. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102614
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, Emerit A, Errazuriz-Cerda E, Michel-Calemard L, Menassa R, Coudert L, Wiessner M, Stucka R, Klopstock T, Simonetti F, Hutten S, Nonaka T, Hasegawa M, Strom TM, Bernard E, Ollagnon E, Urtizberea A, Dormann D, Petiot P, Schaeffer L, Senderek J, Leblanc P. Zibold J, et al. Brain. 2024 May 3;147(5):1768-1783. doi: 10.1093/brain/awad410. Brain. 2024. PMID: 38079474 Free PMC article.
Modeling and analyzing self-resistance of connected automated vehicular platoons under different cyberattack injection modes.
Luo D, Wang J, Wang Y, Dong J. Luo D, et al. Accid Anal Prev. 2024 Apr;198:107494. doi: 10.1016/j.aap.2024.107494. Epub 2024 Feb 8. Accid Anal Prev. 2024. PMID: 38330548 Review.
The proposed models, labeled the vulnerable cooperative intelligent driver model (VCIDM), the vulnerable cooperative optimal velocity model (VCOVM), and the vulnerable cooperative platoon dynamics model (VCPDM), incorporate the CGFM model and assorted cyberattack injection …
The proposed models, labeled the vulnerable cooperative intelligent driver model (VCIDM), the vulnerable cooperative optimal velocity model …
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. Genet Med. 2025 Jun;27(6):101399. doi: 10.1016/j.gim.2025.101399. Epub 2025 Feb 26. Genet Med. 2025. PMID: 40023774 Free article.
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N, Carretero-Vilarroig L, Martí P, Azorín I, Frasquet M, Poyatos-García J, Portela S, Martínez-Vicente L, Argente-Escrig H, Sivera R, Vázquez-Costa JF, Tárrega M, Más-Estellés F, Vílchez R, Bataller L, Aller E, Diago L, Fores-Toribio L, Sevilla T, Vilchez JJ. Muelas N, et al. J Neurol. 2025 Jan 7;272(1):97. doi: 10.1007/s00415-024-12821-3. J Neurol. 2025. PMID: 39775307
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL. Sagath L, et al. Eur J Hum Genet. 2025 Sep;33(9):1153-1162. doi: 10.1038/s41431-025-01891-0. Epub 2025 Jun 14. Eur J Hum Genet. 2025. PMID: 40517164 Free PMC article. Review.
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