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

292 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 novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: laing ng. Neuromuscul Disord. 2023 Feb;33(2):161-168. doi: 10.1016/j.nmd.2022.12.011. Epub 2022 Dec 22. Neuromuscul Disord. 2023. PMID: 36634413
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: laing ng. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.
Ghaoui R, Ha TT, Kerkhof J, McConkey H, Gao S, Babic M, King R, Ravenscroft G, Koszyca B, Otto S, Laing NG, Scott H, Sadikovic B, Kassahn KS. Ghaoui R, et al. Among authors: laing ng. Neuromuscul Disord. 2023 Jun;33(6):484-489. doi: 10.1016/j.nmd.2023.04.002. Epub 2023 Apr 4. Neuromuscul Disord. 2023. PMID: 37209493
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G, Cabrera-Serrano M. Mavillard F, et al. Among authors: laing ng. Brain. 2023 Dec 1;146(12):5235-5248. doi: 10.1093/brain/awad256. Brain. 2023. PMID: 37503746
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G. Scriba CK, et al. Among authors: laing ng. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: laing ng. Stem Cell Res. 2024 Mar 30;77:103410. doi: 10.1016/j.scr.2024.103410. Online ahead of print. Stem Cell Res. 2024. PMID: 38583293 Free article.
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire MJ, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T; All of Us Long Reads Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: laing ng. bioRxiv [Preprint]. 2023 Jun 30:2023.05.11.540430. doi: 10.1101/2023.05.11.540430. bioRxiv. 2023. PMID: 37425777 Free PMC article. Preprint.
292 results