| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hideki Itoh, Takashi Hisamatsu, Kazuhiko Segawa, Toshiaki Takahashi, Takumi Sato, Hiroto Takada, Satoshi Kuru, Chizu Wada, Mikiya Suzuki, Takuhisa Tamura, Shugo Suwazono, Koichi Kimura, Tsuyoshi Matsumura, Masanori P Takahash. CTG repeat length underlying cardiac events and sudden death in myotonic dystrophy type 1. European heart journal open. vol 4. issue 5. 2024-10-11. PMID:39391712. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of ctg repeats (ctgn) in the dm1 protein kinase (dmpk) gene, while it remains unclear whether ctgn may be associated with the incidence of cardiac events or sudden death in japan as well as europe. |
2024-10-11 |
2024-10-13 |
Not clear |
| Shuhei Sakurabayashi, Takeshi Yamada, Kazuhiko Nakatan. The heterodimer of 2-amino-1,8-naphthyridine and 3-aminoisoquinoline binds to the CTG/CTG triad via hydrogen bonding. Bioorganic & medicinal chemistry letters. 2024-10-11. PMID:39393501. |
myotonic dystrophy type 1 (dm1) is caused by the aberrant expansion of ctg repeats within the dmpk gene. |
2024-10-11 |
2024-10-14 |
Not clear |
| E G Hallgrímsdóttir, H Svansson, V F Stefánsdóttir, Ó Á Sveinsson, H Ólafsdóttir, E Briem, S Sveinbjörnsdóttir, J J Jónsso. Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland. Molecular genetics & genomic medicine. vol 12. issue 10. 2024-10-07. PMID:39373365. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant disease with anticipation due to increased number of ctg repeats in the dmpk gene. |
2024-10-07 |
2024-10-09 |
Not clear |
| Yoshitaka Aoki, Motoaki Yanaizu, Ai Ohki, Kai Nishimiya, Yoshihiro Kin. CUG repeat RNA-dependent proteasomal degradation of MBNL1 in a cellular model of myotonic dystrophy type 1. Biochemical and biophysical research communications. vol 733. 2024-09-26. PMID:39326259. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of a non-coding ctg repeat in dmpk. |
2024-09-26 |
2024-09-29 |
Not clear |
| Carlos Pascual-Morena, Iván Cavero-Redondo, Alicia Saz-Lara, Irene Martínez-García, María Eugenia Visier-Alfonso, Vicente Martínez-Vizcaín. Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis. Pediatric neurology. vol 161. 2024-09-04. PMID:39232462. |
myotonic dystrophy type 1 (dm1) is caused by mutations in the dmpk gene, and it is associated with cognitive deficits and intelligence below normative values. |
2024-09-04 |
2024-09-08 |
Not clear |
| Jiss M Louis, Jesus A Frias, Jacob H Schroader, Lindsey A Jones, Emily E Davey, Claudia D Lennon, Jacob Chacko, John D Cleary, J Andrew Berglund, Kaalak Redd. Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1. Human molecular genetics. 2024-08-24. PMID:39180495. |
myotonic dystrophy type 1 (dm1) is a heterogeneous multisystemic disease caused by a ctg repeat expansion in dmpk. |
2024-08-24 |
2024-08-27 |
Not clear |
| Marie-Pier Roussel, Aymeric Ravel-Chapuis, Jonathan Gobin, Bernard J Jasmin, Jean-Philippe Leduc-Gaudet, Cynthia Gagnon, Elise Duchesn. Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study. Journal of neuromuscular diseases. 2024-07-20. PMID:39031377. |
myotonic dystrophy type 1 (dm1) is a slowly progressive disease caused by abnormal ctg repetitions on the dystrophia myotonica protein kinase (dmpk) gene. |
2024-07-20 |
2024-07-24 |
Not clear |
| Bryce A Seifert, Honey V Reddi, Benjamin E Kang, Lora J H Bean, Amy Shealy, Nancy C Ros. Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics. 2024-06-05. PMID:38836869. |
dm1 is an autosomal dominant condition, resulting from an unstable ctg expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2024-06-05 |
2024-06-07 |
Not clear |
| Jenna Damon, Colby Chase, Tomoyasu Higashimot. Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing. American journal of medical genetics. Part A. 2024-05-06. PMID:38709060. |
myotonic dystrophy type 1 is an autosomal dominant condition due to a ctg repeat expansion in the myotonic dystrophy protein kinase (dmpk) gene. |
2024-05-06 |
2024-05-08 |
Not clear |
| Jenna Damon, Colby Chase, Tomoyasu Higashimot. Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing. American journal of medical genetics. Part A. 2024-05-06. PMID:38709060. |
follow-up genetic evaluation via whole genome sequencing identified at least 100 ctg repeats in the dmpk gene, thus resulting in the diagnosis of myotonic dystrophy type 1. |
2024-05-06 |
2024-05-08 |
Not clear |
| Thiéry De Serres-Bérard, Dominic Jauvin, Valérie Pouliot, Jack Puymirat, Mohamed Chahin. Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy. Stem cell research. vol 77. 2024-05-05. PMID:38704930. |
congenital myotonic dystrophy (cdm) is a genetic disease caused by an abnormally long ctg repeat expansion in the dmpk gene, which generally increases in size following intergenerational transmission. |
2024-05-05 |
2024-05-08 |
Not clear |
| Larissa Nitschke, Thomas A Coope. Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy. The Journal of clinical investigation. vol 134. issue 1. 2024-01-02. PMID:38165037. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant disorder caused by an unstable expanded ctg repeat located in the 3'-utr of the dm1 protein kinase (dmpk) gene. |
2024-01-02 |
2024-01-05 |
Not clear |
| Yunjung Rho, Jinmann Chon, Myung Chul Yoo, Ga Yang Shim, Sung Joon Chung, Yunsoo So. Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report. Medicine. vol 102. issue 48. 2023-12-05. PMID:38050269. |
myotonic dystrophy type 1 (dm-1) is a progressive multisystem genetic disorder that causes myotonia and both distal limb and facial/neck muscle weakness by expanding the ctg repeats of the dmpk gene in chromosome 19q13.3. |
2023-12-05 |
2023-12-10 |
Not clear |
| Thiéry De Serres-Bérard, Dominic Jauvin, Jack Puymirat, Mohamed Chahin. Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A). Stem cell research. vol 72. 2023-10-23. PMID:37871474. |
congenital myotonic dystrophy (cdm) is an autosomal dominant multisystemic disorder attributed to a large expansion of ctg trinucleotide repeats within the myotonic dystrophy protein kinase (dmpk) gene. |
2023-10-23 |
2023-11-08 |
Not clear |
| Hans Zempe. Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies. Cytoskeleton (Hoboken, N.J.). 2023-10-05. PMID:37795931. |
examples of the latter are myotonic dystrophy type 1 and type 2 (dm1, dm2, due to pathogenic genetic variants in the genes dmpk and cnbp, respectively), niemann-pick disease type c (npd, due to mutations in npc1 or npc2), kufs disease (cln6), christianson syndrome (slc9a6), familial forms of parkinson disease (pd), and many others. |
2023-10-05 |
2023-10-07 |
Not clear |
| Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago B Gomes, Gráinne S Gorman, Oliver M Russell, Helen A L Tuppen, Elise Duchesne, Amy E Vincen. Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1. Journal of neuromuscular diseases. 2023-08-28. PMID:37638448. |
myotonic dystrophy type 1 (dm1) is a dominant autosomal neuromuscular disorder caused by the inheritance of a ctg triplet repeat expansion in the dystrophia myotonica protein kinase (dmpk) gene. |
2023-08-28 |
2023-09-07 |
Not clear |
| Curtis A Nutter, Benjamin M Kidd, Helmut A Carter, Johanna I Hamel, Philip M Mackie, Nayha Kumbkarni, Mackenzie L Davenport, Dana M Tuyn, Adithya Gopinath, Peter D Creigh, Łukasz J Sznajder, Eric T Wang, Laura P W Ranum, Habibeh Khoshbouei, John W Day, Jacinda B Sampson, Stefan Prokop, Maurice S Swanso. Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. Brain : a journal of neurology. 2023-05-05. PMID:37143315. |
myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by ctg tandem repeat expansions in the dmpk 3' untranslated region. |
2023-05-05 |
2023-08-14 |
mouse |
| Elisabetta Golini, Mara Rigamonti, Marcello Raspa, Ferdinando Scavizzi, Germana Falcone, Genevieve Gourdon, Silvia Mandill. Excessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring. Frontiers in behavioral neuroscience. vol 17. 2023-03-20. PMID:36935893. |
myotonic dystrophy type 1 (dm1) is a dominantly inherited neuromuscular disease caused by the abnormal expansion of ctg-repeats in the 3'-untranslated region of the dystrophia myotonica protein kinase (dmpk) gene, characterized by multisystemic symptoms including muscle weakness, myotonia, cardio-respiratory problems, hypersomnia, cognitive dysfunction and behavioral abnormalities. |
2023-03-20 |
2023-08-14 |
mouse |
| Francesco Pezzoli, Sara Parigi, Marco Moroni, Michele Sacchini, Giorgia Mancano, Andrea Zulli, Francesco Morini, Elena Sandini, Elettra Berti, Gabriella Gabbrielli, Lisa Serafini, Elisabetta Agostini, Angelo Azzarà, Letizia Padrini, Maria Luce Cioni, Anna Ingargiola, Letizia Petrucci, Filomena Paternoster, Serena Catarz. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. Acta bio-medica : Atenei Parmensis. vol 94. issue S1. 2023-03-08. PMID:36883684. |
background and aim myotonic dystrophy (dm) is a genetic disorder determined by an amplified trinucleotide ctg repeat in the untranslated region of the dmpk gene on chromosome 19q13.3. |
2023-03-08 |
2023-08-14 |
Not clear |
| Nafisa Neault, Aymeric Ravel-Chapuis, Stephen D Baird, John A Lunde, Mathieu Poirier, Emiliyan Staykov, Julio Plaza-Diaz, Gerardo Medina, Francisco Abadía-Molina, Bernard J Jasmin, Alex E MacKenzi. Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model. International journal of molecular sciences. vol 24. issue 4. 2023-02-25. PMID:36835205. |
myotonic dystrophy type 1 (dm1), the most common form of adult muscular dystrophy, is caused by an abnormal expansion of ctg repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (dmpk) gene. |
2023-02-25 |
2023-08-14 |
mouse |