PMC Articles for MedGen (Select 107510) - PMC

Jasper M. Morrow, Emma Matthews, Dipa L. Raja Rayan, Arne Fischmann, Christopher D.J. Sinclair, Mary M. Reilly, John S. Thornton, Michael G. Hanna, Tarek A. Yousry

Neuromuscul Disord. 2013 Aug; 23(8): 637–646. doi: 10.1016/j.nmd.2013.05.001

PMCID:: PMC3744809

Abstract Article

Select item 64183717.

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

Christine C. Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M. Reddy, Elicia A. Estrella, Partha S. Ghosh, Basil T. Darras, Hart G. W. Lidov, Christina A. Pacak, Louis M. Kunkel, François Modave, Isabelle Draper, Peter B. Kang

Mol Genet Genomic Med. 2019 Mar; 7(3): e552. Published online 2019 Jan 28. doi: 10.1002/mgg3.552

PMCID:: PMC6418371

Abstract Article PDF–1.4M

Select item 10157868.

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

M C Koch, K Ricker, M Otto, T Grimm, E P Hoffman, R Rüdel, K Bender, B Zoll, P S Harper, F Lehmann-Horn

J Med Genet. 1991 Sep; 28(9): 583–586. doi: 10.1136/jmg.28.9.583

PMCID:: PMC1015786

Summary Page Browse PDF–492K

Select item 111069749.

CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I

Denis Falcetta, Sandrine Quirim, Ilaria Cocchiararo, Florent Chabry, Marine Théodore, Adeline Stiefvater, Shuo Lin, Lionel Tintignac, Robert Ivanek, Jochen Kinter, Markus A. Rüegg, Michael Sinnreich, Perrine Castets

Skelet Muscle. 2024; 14: 11. Published online 2024 May 21. doi: 10.1186/s13395-024-00345-3

PMCID:: PMC11106974

Abstract Article PDF–4.7M

Select item 1110532010.

The role of the protein–RNA recognition code in neurodegeneration

Jozef Nahalka

Cell Mol Life Sci. 2019 Jun; 76(11): 2043–2058. Published online 2019 Apr 12. doi: 10.1007/s00018-019-03096-3

PMCID:: PMC11105320

Abstract Article PDF–2.0M

Select item 1109161911.

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Janet Hoenicka, Cristina Jou, Francesc Palau, Sergi Beltran, Hanns Lochmüller, Ana Töpf, Andrés Nascimento, Daniel Natera-de Benito

J Neuromuscul Dis. 2024; 11(3): 647–653. Prepublished online 2024 Mar 10. Published online 2024 Apr 30. doi: 10.3233/JND-230216

PMCID:: PMC11091619

Abstract Article PDF–1.3M

Select item 1109155912.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaphy

J Neuromuscul Dis. 2024; 11(3): 725–734. Prepublished online 2024 Mar 1. Published online 2024 Apr 30. doi: 10.3233/JND-230134

PMCID:: PMC11091559

Abstract Article PDF–1.2M

Select item 1108602213.

Clinical and genetic characteristics of myotonia congenita in Chinese population

Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan

Channels (Austin) 2024; 18(1): 2349823. Published online 2024 May 8. doi: 10.1080/19336950.2024.2349823

PMCID:: PMC11086022

Abstract Article PDF–3.8M

Select item 1106128914.

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing

Jihoon G. Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae

Eur J Hum Genet. 2024 May; 32(5): 584–587. Published online 2024 Feb 2. doi: 10.1038/s41431-024-01542-w

PMCID:: PMC11061289

Abstract Article PDF–1.5M

Select item 1102150015.

Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus

Tayma Handal, Sarah Juster, Manar Abu Diab, Shira Yanovsky-Dagan, Fouad Zahdeh, Uria Aviel, Roni Sarel-Gallily, Shir Michael, Ester Bnaya, Shulamit Sebban, Yosef Buganim, Yotam Drier, Vincent Mouly, Stefan Kubicek, Walther J. A. A. van den Broek, Derick G. Wansink, Silvina Epsztejn-Litman, Rachel Eiges

Nat Commun. 2024; 15: 3270. Published online 2024 Apr 16. doi: 10.1038/s41467-024-47217-4

PMCID:: PMC11021500

Abstract Article PDF–2.9M

Select item 1097291416.

A retrospective study of accuracy and usefulness of electrophysiological exercise tests

Vesa Periviita, Manu Jokela, Johanna Palmio, Bjarne Udd

J Neurol. 2024; 271(4): 1802–1812. Published online 2023 Dec 6. doi: 10.1007/s00415-023-12110-5

PMCID:: PMC10972914

Abstract Article PDF–632K

Select item 1093044317.

以早发糖尿病首诊的强直性肌营养不良1型1例

万金晶, 赵立玲, 金萍

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Jun 28; 48(6): 930–934. Chinese. doi: 10.11817/j.issn.1672-7347.2023.220599

PMCID:: PMC10930443

Abstract Article PDF–574K

Select item 1091888518.

Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi, Wenhua Zhu, Song Tan, Fuchen Liu, Jiahong Lu, Chongbo Zhao, Sushan Luo

Orphanet J Rare Dis. 2024; 19: 103. Published online 2024 Mar 7. doi: 10.1186/s13023-024-03114-z

PMCID:: PMC10918885

Abstract Article PDF–1.0M

Select item 1087913019.

Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release

Sarah Rösing, Fabian Ullrich, Susann Meisterfeld, Franziska Schmidt, Laura Mlitzko, Marijana Croon, Ryan G Nattrass, Nadia Eberl, Julia Mahlberg, Martin Schlee, Anja Wieland, Philipp Simon, Daniel Hilbig, Ulrike Reuner, Alexander Rapp, Julia Bremser, Peter Mirtschink, Stephan Drukewitz, Thomas Zillinger, Stefan Beissert, Katrin Paeschke, Gunther Hartmann, Aleksandra Trifunovic, Eva Bartok, Claudia Günther

Nat Commun. 2024; 15: 1534. Published online 2024 Feb 20. doi: 10.1038/s41467-024-45535-1

PMCID:: PMC10879130

Abstract Article PDF–2.6M

Select item 1084935020.

Massive contractions of myotonic dystrophy type 2-associated CCTG tetranucleotide repeats occur via double-strand break repair with distinct requirements for DNA helicases

David Papp, Luis A Hernandez, Theresa A Mai, Terrance J Haanen, Meghan A O’Donnell, Ariel T Duran, Sophia M Hernandez, Jenni E Narvanto, Berenice Arguello, Marvin O Onwukwe, Sergei M Mirkin, Jane C Kim

G3 (Bethesda) 2024 Feb; 14(2): jkad257. Published online 2023 Nov 10. doi: 10.1093/g3journal/jkad257

PMCID:: PMC10849350

Abstract Article PDF–770K

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