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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

953 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H. Cullup T, et al. Among authors: muntoni f. Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10. Neuromuscul Disord. 2012. PMID: 22784669
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG. Davis MR, et al. Among authors: muntoni f. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H. Dlamini N, et al. Among authors: muntoni f. Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28. Neuromuscul Disord. 2013. PMID: 23628358
953 results