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

129,463 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Among authors: kim j. Brain Pathol. 2009 Oct;19(4):596-611. doi: 10.1111/j.1750-3639.2008.00198.x. Epub 2008 Aug 7. Brain Pathol. 2009. PMID: 18691338 Free PMC article.
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Among authors: kim j. Neuromuscul Disord. 2006 Oct;16(9-10):571-82. doi: 10.1016/j.nmd.2006.07.015. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935502
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.
Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S, Di Santo J, St Guily JL, Muntoni F, Kim J, Philippi S, Spuler S, Levy N, Blumen SC, Voit T, Wright WE, Aamiri A, Butler-Browne G, Mouly V. Mamchaoui K, et al. Among authors: kim j. Skelet Muscle. 2011 Nov 1;1:34. doi: 10.1186/2044-5040-1-34. Skelet Muscle. 2011. PMID: 22040608 Free PMC article.
Whole-genome sequencing and the clinician: a tale of two cities.
Foley AR, Pitceathly RD, He J, Kim J, Pearson NM, Muntoni F, Hanna MG. Foley AR, et al. Among authors: kim j. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1012-5. doi: 10.1136/jnnp-2013-306264. Epub 2014 Apr 4. J Neurol Neurosurg Psychiatry. 2014. PMID: 24706943 Free PMC article.
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.
Kim J, Lana B, Torelli S, Ryan D, Catapano F, Ala P, Luft C, Stevens E, Konstantinidis E, Louzada S, Fu B, Paredes-Redondo A, Chan AE, Yang F, Stemple DL, Liu P, Ketteler R, Selwood DL, Muntoni F, Lin YY. Kim J, et al. EMBO Rep. 2019 Nov 5;20(11):e47967. doi: 10.15252/embr.201947967. Epub 2019 Sep 30. EMBO Rep. 2019. PMID: 31566294 Free PMC article.
CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model.
Morera C, Kim J, Paredes-Redondo A, Nobles M, Rybin D, Moccia R, Kowala A, Meng J, Garren S, Liu P, Morgan JE, Muntoni F, Christoforou N, Owens J, Tinker A, Lin YY. Morera C, et al. Among authors: kim j. Neuromuscul Disord. 2022 Dec;32(11-12):908-922. doi: 10.1016/j.nmd.2022.10.007. Epub 2022 Nov 1. Neuromuscul Disord. 2022. PMID: 36418198 Free article.
129,463 results
You have reached the last available page of results. Please see the User Guide for more information.