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

Text availability

Article attribute

Article type

Publication date

Search Results

162 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. Donkervoort S, et al. Among authors: foley ar. EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. EMBO Mol Med. 2021. PMID: 34779586 Free PMC article.
Autosomal recessive inheritance of classic Bethlem myopathy.
Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG. Foley AR, et al. Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1. Neuromuscul Disord. 2009. PMID: 19884007 Free PMC article.
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG. Butterfield RJ, et al. Among authors: foley ar. Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429. Hum Mutat. 2013. PMID: 24038877 Free PMC article.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG. Donkervoort S, et al. Among authors: foley ar. Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691. Hum Mutat. 2015. PMID: 25204870 Free PMC article.
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG. Meilleur KG, et al. Among authors: foley ar. Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25307854 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. Among authors: foley ar. 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.
The Role of PIEZO2 in Human Mechanosensation.
Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG. Chesler AT, et al. Among authors: foley ar. N Engl J Med. 2016 Oct 6;375(14):1355-1364. doi: 10.1056/NEJMoa1602812. Epub 2016 Sep 21. N Engl J Med. 2016. PMID: 27653382 Free PMC article.
162 results