MR/V037838/1/MRC_/Medical Research Council/United Kingdom[Grants and Funding] - Search Results

Year	Number of Results
2021	1
2022	8
2023	3
2025	0

1

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A, Feng T, Brünger T, Perez-Palma E, Heyne H, Matthews E, Semsarian C, Symonds JD, Zuberi SM, Lal D, Schorge S. Brunklaus A, et al. Brain. 2022 Dec 19;145(12):4275-4286. doi: 10.1093/brain/awac006. Brain. 2022. PMID: 35037686 Free PMC article.

2

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R. Suetterlin K, et al. Brain. 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. Brain. 2022. PMID: 34529042 Free PMC article.

3

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, van Zuydam N, Walker SM, Woods CG, Bennett DLH. Themistocleous AC, et al. Brain Commun. 2023 Feb 20;5(2):fcad037. doi: 10.1093/braincomms/fcad037. eCollection 2023. Brain Commun. 2023. PMID: 36895957 Free PMC article.

4

Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy.

Silksmith B, Munot P, Starling L, Pujar S, Matthews E. Silksmith B, et al. Lancet Child Adolesc Health. 2022 Jul;6(7):495-508. doi: 10.1016/S2352-4642(22)00091-8. Epub 2022 May 5. Lancet Child Adolesc Health. 2022. PMID: 35525254 Review.

5

Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies.

Matthews E, Palace J, Ramdas S, Sansone V, Tristani-Firouzi M, Vicart S, Willis T. Matthews E, et al. Pediatr Neurol. 2023 Aug;145:102-111. doi: 10.1016/j.pediatrneurol.2023.05.012. Epub 2023 May 19. Pediatr Neurol. 2023. PMID: 37315339 Free article. Review.

6

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E. Vivekanandam V, et al. Brain. 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. Brain. 2022. PMID: 34919635

7

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.

Vivekanandam V, Suetterlin K, Matthews E, Thornton J, Jayaseelan D, Shah S, Morrow JM, Yousry T, Hanna MG. Vivekanandam V, et al. Muscle Nerve. 2023 Oct;68(4):439-450. doi: 10.1002/mus.27947. Epub 2023 Jul 28. Muscle Nerve. 2023. PMID: 37515374

8

Refocusing SIDS research: Is butylcholinesterase a predictive biomarker?

Matthews E. Matthews E. EBioMedicine. 2022 Jul;81:104104. doi: 10.1016/j.ebiom.2022.104104. Epub 2022 Jun 18. EBioMedicine. 2022. PMID: 35728487 Free PMC article. No abstract available.

9

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. Bugiardini E, et al. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494. Epub 2022 Nov 29. J Am Heart Assoc. 2022. PMID: 36444867 Free PMC article.

10

Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.

Suetterlin KJ, Männikkö R, Matthews E, Greensmith L, Hanna MG, Bostock H, Tan SV. Suetterlin KJ, et al. Neuromuscul Disord. 2022 Apr;32(4):347-357. doi: 10.1016/j.nmd.2022.02.011. Epub 2022 Feb 26. Neuromuscul Disord. 2022. PMID: 35339342 Free PMC article.

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