Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2018 1
2019 1
2021 0
Text availability
Article attribute
Article type
Publication date

Search Results

2 results
Results by year
Filters applied: . Clear all
Page 1
214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.
Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG; 214th ENMC workshop participants. Donkervoort S, et al. Neuromuscul Disord. 2019 Aug;29(8):644-650. doi: 10.1016/j.nmd.2019.07.002. Epub 2019 Jul 13. Neuromuscul Disord. 2019. PMID: 31400830 No abstract available.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: malfatti e. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660