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 NCBI Filters

Results by year

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

Year Number of Results
2006 2
2007 1
2008 3
2009 1
2010 3
2011 1
2012 6
2013 4
2014 4
2015 1
2016 6
2017 11
2018 7
2019 10
2020 10
2021 5
2022 6
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

77 results

Results by year

Filters applied: . Clear all
Page 1
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders.
Stinissen L, Bouma S, Böhm J, van Tienen J, Fischer H, Hughes Z, Lennox A, Ward E, Wood M, Foley AR, Oortwijn W, Jungbluth H, Voermans NC. Stinissen L, et al. Among authors: bohm j. Neuromuscul Disord. 2023 Dec 23;38:1-7. doi: 10.1016/j.nmd.2023.12.014. Online ahead of print. Neuromuscul Disord. 2023. PMID: 38290938 Free article. Review.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. Among authors: bohm j. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 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: bohm j. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
O'Connor TN, van den Bersselaar LR, Chen YS, Nicolau S, Simon B, Huseth A, Todd JJ, Van Petegem F, Sarkozy A, Goldberg MF, Voermans NC, Dirksen RT; RYR1 Myopathy Consortium. O'Connor TN, et al. J Neuromuscul Dis. 2023;10(1):135-154. doi: 10.3233/JND-221609. J Neuromuscul Dis. 2023. PMID: 36404556 Free PMC article. No abstract available.
Mutation update for the ACTN2 gene.
Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: bohm j. Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27. Hum Mutat. 2022. PMID: 36116040 Free PMC article. Review.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Among authors: bohm j. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.
77 results