U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 21

1.
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
Luc Régal, Xin-Ming Shen, Duygu Selcen, Chantal Verhille, Sandra Meulemans, John W.M. Creemers, Andrew G. Engel
Neurology. 2014 Apr 8; 82(14): 1254–1260. doi: 10.1212/WNL.0000000000000295
PMCID:
PMC4001208
AbstractArticlePDF–1010K
2.
A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings
Olga Shchagina, Ludmila Bessonova, Igor Bychkov, Tatiana Beskorovainaya, Aleksander Poliakov
Genes (Basel) 2020 Jul; 11(7): 821. Published online 2020 Jul 19. doi: 10.3390/genes11070821
PMCID:
PMC7397044
AbstractArticlePDF–669K
3.
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
AbstractArticlePDF–889K
4.
Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency
Laura Sayol-Torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-Alvarez, Maria Clemente, Diego Yeste
J Clin Res Pediatr Endocrinol. 2023 Jun; 15(2): 205–209. Published online 2023 May 29. doi: 10.4274/jcrpe.galenos.2021.2021.0128
PMCID:
PMC10234053
AbstractArticlePDF–642K
5.
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
Karen Rosier, Molly T. McDevitt, Joél Smet, Brendan J. Floyd, Maxime Verschoore, Maria J. Marcaida, Craig A. Bingman, Irma Lemmens, Matteo Dal Peraro, Jan Tavernier, Benjamin F. Cravatt, Natalia V. Gounko, Katlijn Vints, Yenthe Monnens, Kritika Bhalla, Laetitia Aerts, Edrees H. Rashan, Arnaud V. Vanlander, Rudy Van Coster, Luc Régal, David J. Pagliarini, John W.M. Creemers
iScience. 2021 Dec 17; 24(12): 103460. Published online 2021 Nov 14. doi: 10.1016/j.isci.2021.103460
PMCID:
PMC8634043
AbstractArticlePDF–3.8M
6.
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Yena Lee, Han Na Jang, Tae-Sung Ko, Beom Hee Lee
J Clin Med. 2020 Nov; 9(11): 3724. Published online 2020 Nov 20. doi: 10.3390/jcm9113724
PMCID:
PMC7699758
AbstractArticlePDF–3.1M
7.
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
Qi Yang, Rong Hua, Jiale Qian, Shang Yi, Fei Shen, Qiang Zhang, Mengting Li, Sheng Yi, Jingsi Luo, Xin Fan
Front Genet. 2020; 11: 198. Published online 2020 Mar 11. doi: 10.3389/fgene.2020.00198
PMCID:
PMC7078161
AbstractArticlePDF–1.1M
8.
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
Susie Barbeau, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, Emmanuel Fournier, Hanice Karasoy, Cécile Martinat, Claire Legay
Int J Mol Sci. 2023 Nov; 24(22): 16217. Published online 2023 Nov 11. doi: 10.3390/ijms242216217
PMCID:
PMC10671321
AbstractArticlePDF–3.1M
9.
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
Shuai Shao, Guanzhong Shi, Fang-Fang Bi, Kun Huang
Curr Neuropharmacol. 2023 May 18; 21(7): 1594–1605. Published online 2023 May 18. doi: 10.2174/1570159X21666230126145652
PMCID:
PMC10472815
AbstractArticlePDF–6.2M
10.
Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis
Paulo José Lorenzoni, Renata Dal-Pra Ducci, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Otto Jesus Hernandez Fustes, Ana Töpf, Hanns Lochmüller, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola
Arq Neuropsiquiatr. 2022 Jan; 80(1): 69–74. Published online 2021 Dec 31. doi: 10.1590/0004-282X-ANP-2020-0575
PMCID:
PMC9651496
AbstractArticlePDF–523K
11.
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
Youssef El Kadiri, Ilham Ratbi, Abdelaziz Sefiani, Jaber Lyahyai
BMC Neurol. 2022; 22: 292. Published online 2022 Aug 5. doi: 10.1186/s12883-022-02822-y
PMCID:
PMC9354381
AbstractArticlePDF–3.8M
12.
Bedside and laboratory diagnostic testing in myasthenia
Katie Yoganathan, Alexander Stevenson, Awais Tahir, Ross Sadler, Aleksandar Radunovic, Naveed Malek
J Neurol. 2022; 269(6): 3372–3384. Published online 2022 Feb 10. doi: 10.1007/s00415-022-10986-3
PMCID:
PMC9119875
AbstractArticlePDF–988K
13.
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
AbstractArticlePDF–1.0M
14.
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating
Xin-Ming Shen, Li Di, Shelley Shen, Yuying Zhao, Ann M Neumeyer, Duygu Selcen, Steven M. Sine, Andrew G. Engel
Exp Neurol. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: Exp Neurol. 2020 Sep; 331: 113375. Published online 2020 Jun 3. doi: 10.1016/j.expneurol.2020.113375
PMCID:
PMC7483818
AbstractArticlePDF–1.8M
15.
Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T
Wo‐Tu Tian, Hai‐Yan Zhou, Fei‐Xia Zhan, Ze‐Yu Zhu, Jie Yang, Sheng‐Di Chen, Xing‐Hua Luan, Li Cao
Ann Clin Transl Neurol. 2019 Jun; 6(6): 1062–1071. Published online 2019 May 8. doi: 10.1002/acn3.787
PMCID:
PMC6562035
AbstractArticlePDF–6.7M
16.
CONGENITAL MYASTHENIC SYNDROMES IN TURKEY: CLINICAL CLUES AND PROGNOSIS WITH LONG TERM FOLLOW-UP
Hacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, Bulent Kara, Yesim Gulsen-Parman, Coskun Ozdemir, Joan Brengman, Feza Deymeer, Andrew G. Engel
Neuromuscul Disord. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Neuromuscul Disord. 2018 Apr; 28(4): 315–322. Published online 2017 Nov 28. doi: 10.1016/j.nmd.2017.11.013
Correction in:
Neuromuscul Disord. 2018 Oct; 28(10): 896.
PMCID:
PMC5924610
AbstractArticlePDF–453K
17.
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
Roger G. Whittaker, David N. Herrmann, Boglarka Bansagi, Bashar Awwad Shiekh Hasan, Robert Muni Lofra, Eric L. Logigian, Janet E. Sowden, Jorge L. Almodovar, J. Troy Littleton, Stephan Zuchner, Rita Horvath, Hanns Lochmüller
Neurology. 2015 Dec 1; 85(22): 1964–1971. doi: 10.1212/WNL.0000000000002185
PMCID:
PMC4664120
AbstractArticlePDF–479K
18.
Current Status of the Congenital Myasthenic Syndromes
Andrew G. Engel
Neuromuscul Disord. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Neuromuscul Disord. 2012 Feb; 22(2): 99–111. Published online 2011 Nov 21. doi: 10.1016/j.nmd.2011.10.009
PMCID:
PMC3269564
AbstractArticlePDF–1.4M
19.
BENEFICIAL EFFECT OF ALBUTEROL IN CONGENTIAL MYASTHENIC SYNDROME WITH EPSILON SUBUINT MUTATIONS
Menachem Sadeh, Xin-Ming Shen, Andrew G. Engel
Muscle Nerve. Author manuscript; available in PMC 2012 Aug 1.
Published in final edited form as: Muscle Nerve. 2011 Aug; 44(2): 289–291. Published online 2011 Jun 30. doi: 10.1002/mus.22153
PMCID:
PMC3136566
AbstractArticlePDF–45K
20.
High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays
Lisa Denning, Jennifer A. Anderson, Ryan Davis, Jeffrey P. Gregg, Jennifer Kuzdenyi, Ricardo A. Maselli
PLoS One. 2007; 2(9): e918. Published online 2007 Sep 19. doi: 10.1371/journal.pone.0000918
PMCID:
PMC1975473
AbstractArticlePDF–168K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center