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

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2018 3
2019 6
2020 3
2021 3
2023 1
2024 3
2025 5
2026 5

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

25 results

Results by year

Filters applied: . Clear all
Page 1
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, van Beek R, Gardeitchik T, Kamsteeg EJ, Medici E, Donker Kaat L, Nemoto J, Komaki H, Okabe T, Kimoto Y, Tokito T, Nakanowatari M, Oya Y, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Genetti CA, Valivullah ZM, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Milic Rasic V, Kovacevic G, Kosac A, Moreno CAM, Gontijo Camelo C, Zanoteli E, Habib C, Fahey MC, Beggs AH, Poulsen NS, Vissing J, Straub V, Savarese M, Tasca G, Voermans NC, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: poulsen ns. Brain. 2026 Feb 12:awag059. doi: 10.1093/brain/awag059. Online ahead of print. Brain. 2026. PMID: 41678358 Free article.
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.
Verdu-Diaz J, Bolano-Díaz C, Gonzalez-Chamorro A, Fitzsimmons S, Warman-Chardon J, Kocak GS, Mucida-Alvim D, Smith IC, Vissing J, Poulsen NS, Luo S, Domínguez-González C, Bermejo-Guerrero L, Gomez-Andres D, Sotoca J, Pichiecchio A, Nicolosi S, Monforte M, Brogna C, Mercuri E, Bevilacqua JA, Díaz-Jara J, Pizarro-Galleguillos B, Krkoska P, Alonso-Pérez J, Olivé M, Niks EH, Kan HE, Lilleker J, Roberts M, Buchignani B, Shin J, Esselin F, Le Bars E, Childs AM, Malfatti E, Sarkozy A, Perry L, Sudhakar S, Zanoteli E, Di Pace FT, Matthews E, Attarian S, Bendahan D, Garibaldi M, Fionda L, Alonso-Jiménez A, Carlier R, Okhovat AA, Nafissi S, Nalini A, Vengalil S, Hollingsworth K, Marini-Bettolo C, Straub V, Tasca G, Bacardit J, Díaz-Manera J; Myo‐Guide Consortium. Verdu-Diaz J, et al. Among authors: poulsen ns. J Cachexia Sarcopenia Muscle. 2025 Jun;16(3):e13815. doi: 10.1002/jcsm.13815. J Cachexia Sarcopenia Muscle. 2025. PMID: 40275674 Free PMC article.
Muscle contractility in spinobulbar muscular atrophy.
Dahlqvist JR, Oestergaard ST, Poulsen NS, Knak KL, Thomsen C, Vissing J. Dahlqvist JR, et al. Among authors: poulsen ns. Sci Rep. 2019 Mar 18;9(1):4680. doi: 10.1038/s41598-019-41240-y. Sci Rep. 2019. PMID: 30886222 Free PMC article.
Muscle Contractility in Hypokalemic Periodic Paralysis.
Holm-Yildiz S, Krag T, Dysgaard T, Pedersen BS, Witting N, Kodal LS, Kannuberg L, Pedersen JJ, Andersen RK, Lyu Z, Aagaard MM, Vissing CR, Dahlqvist J, Løkken N, Poulsen NS, Vissing J. Holm-Yildiz S, et al. Among authors: poulsen ns. Muscle Nerve. 2025 Mar;71(3):360-367. doi: 10.1002/mus.28330. Epub 2024 Dec 24. Muscle Nerve. 2025. PMID: 39719667
Contractile properties are impaired in congenital myopathies.
Eisum AV, Fornander F, Poulsen NS, Andersen AG, Dahlqvist J, Andersen LK, Witting N, Vissing J. Eisum AV, et al. Among authors: poulsen ns. Neuromuscul Disord. 2020 Aug;30(8):649-655. doi: 10.1016/j.nmd.2020.06.007. Epub 2020 Jun 20. Neuromuscul Disord. 2020. PMID: 32675003
25 results