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Select item 98923461.

Plateau potentials contribute to myotonia in mouse models of myotonia congenital

Xueyong Wang, Chris Dupont, Delaney Grant, Andrew A. Voss, Mark M. Rich

Exp Neurol. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Exp Neurol. 2023 Mar; 361: 114303. Published online 2022 Dec 20. doi: 10.1016/j.expneurol.2022.114303

PMCID:: PMC9892346

Abstract Article PDF–1.3M

Select item 82462632.

Saturation mutagenesis defines novel mouse models of severe spine deformity

Jonathan J. Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A. Rosenfeld, Pengfei Liu, Jake Munch, Daniel J. Sucato, Bruce Beutler, Carol A. Wise

Dis Model Mech. 2021 Jun 1; 14(6): dmm048901. Published online 2021 Jun 18. doi: 10.1242/dmm.048901

PMCID:: PMC8246263

Abstract Article

Select item 80791523.

The mechanism underlying transient weakness in myotonia congenita

Jessica H Myers, Kirsten Denman, Chris DuPont, Ahmed A Hawash, Kevin R Novak, Andrew Koesters, Manfred Grabner, Anamika Dayal, Andrew A Voss, Mark M Rich

eLife. 2021; 10: e65691. Published online 2021 Apr 27. doi: 10.7554/eLife.65691

PMCID:: PMC8079152

Abstract Article PDF–1.0M

Select item 79136824.

Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy

Matthew K Tanner, Zhenzhi Tang, Charles A Thornton

Nucleic Acids Res. 2021 Feb 26; 49(4): 2240–2254. Published online 2021 Jan 27. doi: 10.1093/nar/gkab022

PMCID:: PMC7913682

Abstract Article PDF–3.7M

Select item 76579635.

TRPV4 antagonism prevents mechanically-induced myotonia

Chris Dupont, Kevin Novak, Kirsten Denman, Jessica H. Myers, Jeremy M. Sullivan, Phillip V Walker, II, Nicklaus L. Brown, David R. Ladle, Laurent Bogdanik, Cathleen M. Lutz, Andrew Voss, Charlotte J. Sumner, Mark M. Rich

Ann Neurol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Ann Neurol. 2020 Aug; 88(2): 297–308. Published online 2020 Jun 22. doi: 10.1002/ana.25780

PMCID:: PMC7657963

Abstract Article PDF–1.5M

Select item 73939016.

Interaction with ectopic cochlear crista sensory epithelium disrupts basal cochlear sensory epithelium development in Lmx1a mutant mice

David H. Nichols, Judith E. Bouma, Benjamin J. Kopecky, Israt Jahan, Kirk W. Beisel, David Z. Z. He, Huizhan Liu, Bernd Fritzsch

Cell Tissue Res. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Cell Tissue Res. 2020 Jun; 380(3): 435–448. Published online 2020 Jan 13. doi: 10.1007/s00441-019-03163-y

PMCID:: PMC7393901

Abstract Article PDF–1.9M

Select item 72685497.

Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA

Ramesh S Yadava, Qing Yu, Mahua Mandal, Frank Rigo, C Frank Bennett, Mani S Mahadevan

Hum Mol Genet. 2020 Jun 3; 29(9): 1440–1453. Published online 2020 Apr 2. doi: 10.1093/hmg/ddaa060

PMCID:: PMC7268549

Abstract Article PDF–1.2M

Select item 70062608.

Studies on N-Ethyl-N-nitrosourea Mutagenesis in BALB/c Mice

Kyu-Hyuk Cho, Jae-Woo Cho, Chang-Woo Song

Toxicol Res. 2008 Mar; 24(1): 59–68. Published online 2008 Mar 1. doi: 10.5487/TR.2008.24.1.059

PMCID:: PMC7006260

Abstract Article PDF–1.8M

Select item 67580039.

The Myotonia Congenita Mutation A331T Confers a Novel Hyperpolarization-Activated Gate to the Muscle Chloride Channel ClC-1

Maike Warnstedt, Chen Sun, Barbara Poser, Maria Jose Escriva, Lisbeth Tranebjærg, Torberg Torbergsen, Marijke van Ghelue, Christoph Fahlke

J Neurosci. 2002 Sep 1; 22(17): 7462–7470. doi: 10.1523/JNEUROSCI.22-17-07462.2002

PMCID:: PMC6758003

Abstract Article PDF–276K

Select item 672549910.

Activity-Dependent Presynaptic Regulation of Quantal Size at the Mammalian Neuromuscular Junction In Vivo

Xueyong Wang, Yingjie Li, Kathrin L. Engisch, Stan T. Nakanishi, Sara E. Dodson, Gary W. Miller, Timothy C. Cope, Martin J. Pinter, Mark M. Rich

J Neurosci. 2005 Jan 12; 25(2): 343–351. doi: 10.1523/JNEUROSCI.3252-04.2005

PMCID:: PMC6725499

Abstract Article PDF–275K

Select item 667532811.

Prolongation of Evoked and Spontaneous Synaptic Currents at the Neuromuscular Junction after Activity Blockade Is Caused by the Upregulation of Fetal Acetylcholine Receptors

Xueyong Wang, Kathrin L. Engisch, Russell W. Teichert, Baldomero M. Olivera, Martin J. Pinter, Mark M. Rich

J Neurosci. 2006 Aug 30; 26(35): 8983–8987. doi: 10.1523/JNEUROSCI.2493-06.2006

PMCID:: PMC6675328

Abstract Article PDF–347K

Select item 656439112.

Myotonia, a new inherited muscle disease in mice

AH Heller, EM Eicher, M Hallett, RL Sidman

J Neurosci. 1982 Jul 1; 2(7): 924–933. doi: 10.1523/JNEUROSCI.02-07-00924.1982

PMCID:: PMC6564391

Abstract PDF–1.7M

Select item 529120013.

Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice

Samuel T. Carrell, Ellie M. Carrell, David Auerbach, Sanjay K. Pandey, C. Frank Bennett, Robert T. Dirksen, Charles A. Thornton

Hum Mol Genet. 2016 Oct 1; 25(19): 4328–4338. Published online 2016 Aug 13. doi: 10.1093/hmg/ddw266

PMCID:: PMC5291200

Abstract Article PDF–911K

Select item 464019914.

Variant mapping and mutation discovery in inbred mice using next-generation sequencing

Jabier Gallego-Llamas, Andrew E. Timms, Krista A. Geister, Anna Lindsay, David R. Beier

BMC Genomics. 2015; 16: 913. Published online 2015 Nov 9. doi: 10.1186/s12864-015-2173-1

PMCID:: PMC4640199

Abstract Article PDF–1.7M

Select item 462707615.

Cooperation meets competition in microRNA-mediated DMPK transcript regulation

Edyta Koscianska, Tomasz M. Witkos, Emilia Kozlowska, Marzena Wojciechowska, Wlodzimierz J. Krzyzosiak

Nucleic Acids Res. 2015 Oct 30; 43(19): 9500–9518. Published online 2015 Aug 24. doi: 10.1093/nar/gkv849

PMCID:: PMC4627076

Abstract Article PDF–616K

Select item 458838016.

Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation

Jongkyu Choi, Kirkwood E. Personius, Marino DiFranco, Warunee Dansithong, Carl Yu, Saumya Srivastava, Donald M. Dixon, Darshan B. Bhatt, Lucio Comai, Julio L. Vergara, Sita Reddy

EBioMedicine. 2015 Sep; 2(9): 1034–1047. Published online 2015 Jul 31. doi: 10.1016/j.ebiom.2015.07.028