PMC Articles for MedGen (Select 906793) - PMC

Links from MedGen

Items: 1 to 20 of 26

<< First< Prev

Page of 2

Select item 52458911.

Weak Genetic Structure in Northern African Dromedary Camels Reflects Their Unique Evolutionary History

Youcef Amine Cherifi, Suheil Bechir Semir Gaouar, Rosangela Guastamacchia, Khalid Ahmed El-Bahrawy, Asmaa Mohammed Aly Abushady, Abdoallah Aboelnasr Sharaf, Derradji Harek, Giovanni Michele Lacalandra, Nadhira Saïdi-Mehtar, Elena Ciani

PLoS One. 2017; 12(1): e0168672. Published online 2017 Jan 19. doi: 10.1371/journal.pone.0168672

PMCID:: PMC5245891

Article PDF–1.2M

Select item 101877232.

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

Xin‐Ming Shen, Tomohiko Nakata, Seiji Mizuno, Issei Imoto, Duygu Selcen, Kinji Ohno, Andrew G. Engel

Ann Clin Transl Neurol. 2023 May; 10(5): 732–743. Published online 2023 Mar 9. doi: 10.1002/acn3.51756

PMCID:: PMC10187723

Article PDF–917K

Select item 99610563.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Kinji Ohno, Bisei Ohkawara, Xin-Ming Shen, Duygu Selcen, Andrew G. Engel

Int J Mol Sci. 2023 Feb; 24(4): 3730. Published online 2023 Feb 13. doi: 10.3390/ijms24043730

PMCID:: PMC9961056

Article PDF–3.3M

Select item 98085584.

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

Hayley M. Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E. Boyden, Pinar Bayrak-Toydemir, Thomas J. Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua L. Bonkowsky, Brian J. Shayota, Sabrina Malone Jenkins

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006242. doi: 10.1101/mcs.a006242

PMCID:: PMC9808558

Article PDF–5.4M

Select item 88427575.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Article PDF–779K

Select item 80494326.

A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function

Timothy Chaya, Shrey Patel, Erin M Smith, Andy Lam, Elaine N Miller, Michael Clupper, Kirsten Kervin, Jessica E Tanis

G3 (Bethesda) 2021 Apr; 11(4): jkab047. Published online 2021 Mar 13. doi: 10.1093/g3journal/jkab047

PMCID:: PMC8049432

Article PDF–676K

Select item 80459087.

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Yawen Zhao, Ying Li, Yang Bian, Sheng Yao, Penju Liu, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan

Ann Clin Transl Neurol. 2021 Apr; 8(4): 898–907. Published online 2021 Mar 23. doi: 10.1002/acn3.51346

PMCID:: PMC8045908

Article PDF–1.0M

Select item 79563828.

Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia

Denis Kudryavtsev, Anastasia Isaeva, Daria Barkova, Ekaterina Spirova, Renata Mukhutdinova, Igor Kasheverov, Victor Tsetlin

Molecules. 2021 Mar; 26(5): 1278. Published online 2021 Feb 26. doi: 10.3390/molecules26051278

PMCID:: PMC7956382

Article PDF–5.0M

Select item 77347259.

Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

Li Di, Hai Chen, Yan Lu, Duygu Selcen, Andrew G. Engel, Yuwei Da, Xin-Ming Shen

Neurology. 2020 Nov 17; 95(20): e2781–e2793. doi: 10.1212/WNL.0000000000010734

PMCID:: PMC7734725

Article PDF–419K

Select item 705709410.

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

Ping Zhang, Bingbing Wu, Yulan Lu, Qi Ni, Renchao Liu, Wenhao Zhou, Huijun Wang

Mol Genet Genomic Med. 2020 Mar; 8(3): e1144. Published online 2020 Jan 27. doi: 10.1002/mgg3.1144

PMCID:: PMC7057094

Article PDF–889K

Select item 580097711.

The unfolding landscape of the congenital myasthenic syndromes

Andrew G. Engel, Xin-Ming Shen, Duygu Selcen

Ann N Y Acad Sci. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Ann N Y Acad Sci. 2018 Feb; 1413(1): 25–34. Published online 2018 Jan 21. doi: 10.1111/nyas.13539

PMCID:: PMC5800977

Article PDF–1.1M

Select item 576061312.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller

J Neurol. 2018; 265(1): 194–203. Published online 2017 Nov 30. doi: 10.1007/s00415-017-8689-3

PMCID:: PMC5760613

Article PDF–1.1M

Select item 543627013.

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H. Beggs, Haluk Topaloglu

J Clin Neuromuscul Dis. Author manuscript; available in PMC 2017 May 18.

Published in final edited form as: J Clin Neuromuscul Dis. 2017 Mar; 18(3): 147–151. doi: 10.1097/CND.0000000000000132

PMCID:: PMC5436270

Article PDF–165K

Select item 535280414.

A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure

Farah A. Falix, Carlien A.M. Bennebroek, Bert van der Zwaag, Ruth Lapid-Gortzak, Sandrine Florquin, Michiel J.S. Oosterveld

Eur J Pediatr. 2017; 176(4): 515–519. Published online 2017 Feb 10. doi: 10.1007/s00431-017-2871-6

PMCID:: PMC5352804

Article PDF–2.8M

Select item 505571715.

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report

Thashi Chang, Judith Cossins, David Beeson

BMC Neurol. 2016; 16: 195. Published online 2016 Oct 7. doi: 10.1186/s12883-016-0716-y

PMCID:: PMC5055717

Article PDF–530K

Select item 492974216.

A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle

Jørgen S. Agerholm, Fintan J. McEvoy, Fiona Menzi, Vidhya Jagannathan, Cord Drögemüller

BMC Genomics. 2016; 17: 479. Published online 2016 Jun 30. doi: 10.1186/s12864-016-2832-x

PMCID:: PMC4929742

Article PDF–1.6M

Select item 452025117.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Andrew G. Engel, Xin-Ming Shen, Duygu Selcen, Steven M. Sine

Lancet Neurol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Lancet Neurol. 2015 Apr; 14(4): 420–434. doi: 10.1016/S1474-4422(14)70201-7

Correction in:: Lancet Neurol. 2015 May; 14(5): 461.

PMCID:: PMC4520251

Article PDF–1.2M

Select item 414843318.

A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome

Caitlin J. Rinz, Jonathan Levine, Katie M. Minor, Hammon D. Humphries, Renee Lara, Alison N. Starr-Moss, Ling T. Guo, D. Colette Williams, G. Diane Shelton, Leigh Anne Clark

PLoS One. 2014; 9(8): e106425. Published online 2014 Aug 28. doi: 10.1371/journal.pone.0106425

PMCID:: PMC4148433

Article PDF–6.5M

Select item 364231319.

Function of Interfacial Prolines at the Transmitter-binding Sites of the Neuromuscular Acetylcholine Receptor

Shaweta Gupta, Prasad Purohit, Anthony Auerbach

J Biol Chem. 2013 May 3; 288(18): 12667–12679. Published online 2013 Mar 21. doi: 10.1074/jbc.M112.443911

Correction in:: J Biol Chem. 2013 Oct 4; 288(40): 28949.

PMCID:: PMC3642313

Article PDF–1.5M

Select item 305058620.

What Have We Learned from the Congenital Myasthenic Syndromes

Andrew G. Engel, Xin-Ming Shen, Duygu Selcen, Steven M. Sine

J Mol Neurosci. Author manuscript; available in PMC 2011 Mar 8.

Published in final edited form as: J Mol Neurosci. 2010 Jan; 40(1-2): 143–153. Published online 2009 Aug 18. doi: 10.1007/s12031-009-9229-0

PMCID:: PMC3050586

Article PDF–3.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 26

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity