Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2015 | 1 |
2016 | 3 |
2017 | 2 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.
J Med Genet. 2017.
PMID: 27389779
Free PMC article.
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG.
Donkervoort S, et al.
Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13.
Ann Neurol. 2015.
PMID: 26418456
Free PMC article.
Item in Clipboard
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M.
Punetha J, et al.
Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.
Muscle Nerve. 2017.
PMID: 27348394
Free PMC article.
Item in Clipboard
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG.
Foley AR, et al.
Ann Neurol. 2011 Jan;69(1):206-11. doi: 10.1002/ana.22283.
Ann Neurol. 2011.
PMID: 21280092
Free PMC article.
Item in Clipboard
212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.
Saunier M, Bönnemann CG, Durbeej M, Allamand V; CMD Animal Model Consortium.
Saunier M, et al.
Neuromuscul Disord. 2016 Mar;26(3):252-9. doi: 10.1016/j.nmd.2016.02.002. Epub 2016 Feb 15.
Neuromuscul Disord. 2016.
PMID: 26948708
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite