Results 91 to 100 of about 33,763 (228)

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
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Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks [PDF]

, 2016
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring.
Abastado, Abeliovich, Acharya, Achiron, Alan E. Tomkinson, Amiel, Anderson, Arturo López Castel, Ashizawa, August B. Pearson, Axford, Aziz, Barnes, Brunner, Cami, Campbell, Carraway, Cereghini, Christopher E. Pearson, Chung, Clark, Cleary, Cleary, Cleary, Conley, Dean, Debrauwère, Dragileva, Du, Edelmann, Erdeniz, Erdile, Farrell, Fishel, Foiry, Freudenreich, Gagan B. Panigrahi, Genschel, Giordano, Goetz, Hashem, Haugen, Hay, Hou, Jackson, Jaworski, Kang, Kantartzis, Kleczkowska, Kovtun, Kow, Levin, Li, Lin, Liu, Lopez Castel, Lopez Castel, Lopez de Munain, Lu, Mackenney, Manley, Marcadier, Martorell, Masih, Mason, Matsumura, Meghan M. Slean, Miret, Miret, Nahhas, Nenguke, Norremolle, O'Hoy, Palombo, Panigrahi, Panigrahi, Panigrahi, Panigrahi, Parniewski, Pavlov, Pearson, Pearson, Petes, Prigent, Puymirat, Risinger, Romanova, Savouret, Savouret, Schmidt, Schneider, Schumacher, Schweitzer, Seriola, Sharp, Shelbourne, Slean, Srivatsan, Stillman, Stillman, Stillman, Tam, Tang, Tome, Tome, van den Broek, Vassilev, Westmoreland, Wheeler, Yang, Zhang   +110 more
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The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease [PDF]

, 2011
Martina Minnerop, Bernd Weber, Jan‐Christoph Schoene‐Bake, Sandra Roeske, S. Mirbach, C. Anspach, Christiane Schneider‐Gold, Regina C. Betz, Christoph Helmstaedter, Marc Tittgemeyer, Thomas Klockgether, Cornelia Kornblum   +11 more
openalex   +1 more source

Ubiquitination of MBNL1 Is Required for Its Cytoplasmic Localization and Function in Promoting Neurite Outgrowth

Cell Reports, 2018
Summary: The Muscleblind-like protein family (MBNL) plays an important role in regulating the transition between differentiation and pluripotency and in the pathogenesis of myotonic dystrophy type 1 (DM1), a CTG expansion disorder.
Pei-Ying Wang, Kuei-Ting Chang, Yu-Mei Lin, Ting-Yu Kuo, Guey-Shin Wang   +4 more
doaj   +1 more source

Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 [PDF]

, 2019
Qi Yin, Hongye Wang, Zhenfei Xie, Lifang Jin, Yifu Ding, Na Li, Yan Li, Qiong Wang, Xinyi Liu, Liu‐Qing Xu, Kai Wang, Yanbo Cheng, Boran Chang, Cuiqing Zhong, Yu Qian, Wei Tang, Wan‐Jin Chen, Wenjun Yang, Fan Zhang, Chen Ding, Lan Bao, Bin Zhou, Ping Hu, Jinsong Li   +23 more
openalex   +1 more source

microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy [PDF]

, 2021
Sarah U. Morton, Christopher Sefton, Huanqing Zhang, Manhong Dai, David L. Turner, Michael D. Uhler, Pankaj B. Agrawal   +6 more
openalex   +1 more source

Congenital Form and Genetics of Myotonic Dystrophy Type 1

, 2022
Keiko Ishigaki
openalex   +1 more source

Cardiac Myotonic Dystrophy Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Sudden Cardiac Death Victim [PDF]

, 2008
Alex Hørby Christensen, Henning Bundgaard, Marianne Schwartz, Steen Holger Hansen, Jesper Hastrup Svendsen   +4 more
openalex   +1 more source

N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

EMBO Molecular Medicine, 2014
Mutations in amphiphysin‐2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads.
Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet‐Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R Gomes   +14 more
doaj   +1 more source

Cost-effectiveness of DNA-diagnosis for four monogenic diseases [PDF]

, 1994
In this paper the costs and benefits associated with DNA-diagnosis of individuals who are at risk of a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a ...
Hout, B.A. (Ben) van, Riet, A.A.P.M. van der, Rutten, F.F.H. (Frans)   +2 more
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