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#1. Myotonic dystrophy - PubMed
由 CA Thornton 著作 · 2014 · 被引用 301 次 — Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent ... Charles A Thornton ...
#2. Charles A. Thornton, MD - URMC
Biography. Professional Background. Neurogenetic disorders, including myotonic dystrophy; therapeutics, including antisense approaches. Myotonia is a state of ...
#3. Targeting nuclear RNA for in vivo correction of myotonic ...
Charles Thornton and colleagues report the reversal of physical and ... In the hereditary degenerative disease myotonic dystrophy type 1 ...
#4. Myotonic Dystrophy: RNA Pathogenesis Comes into Focus
由 LPW Ranum 著作 · 2004 · 被引用 281 次 — How this untranslated CTG expansion causes myotonic dystrophy type 1(DM1) has ... Thornton 1999; Harper 2001), with symptomatic weakness, pain and myotonia.
#5. Introduction to Myotonic Dystrophy Type 1
Charles Thornton, MD (for sharing slides), University of Rochester. Myotonic Dystrophy ... congenital myopathies/dystrophies ... DM1: percussion myotonia.
#6. Targeted splice sequencing reveals RNA toxicity and ...
Myotonic dystrophy type 1 (DM1) invo. ... splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy ... Charles A Thornton.
#7. Of Mice and Men: Advances in the Understanding ... - Frontiers
Myotonic dystrophy (DM) illustrates the cardinal contribution of mouse models ... Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, ...
#8. Multicenter Observational Study of Myotonic Dystrophy Type 1
Myotonic Dystrophy Foundation. The Marigold Foundation. Information provided by (Responsible Party):. Charles Thornton, University of ...
#9. Myotonic dystrophy with no trinucleotide repeat expansion
Abstract We report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG ... Dr. Charles A. Thornton MD,.
#10. Reversal of RNA missplicing and myotonia after muscleblind ...
This pathogenesis model was proposed first for the neuromuscular disease myotonic dystrophy (DM), which is associated with the expansion of structurally ...
#11. MDA Grants Charles Thornton More Than $1 Million in New ...
“The Myotonic Dystrophy Clinical Research Network is a natural extension of 30-plus years' effort to understand the fundamental problems in ...
#12. Myotonic dystrophy: Etiology, clinical features, and diagnosis
Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disorder. ... Thornton CA, Johnson K, Moxley RT 3rd. Myotonic ...
#13. Myotonic Dystrophies: Targeting Therapies for Multisystem ...
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also ...
#14. Compound loss of muscleblind‐like function in myotonic ...
Myotonic dystrophy (DM) is a multi-systemic disease that impacts ... DM1 skeletal muscle (Fugier et al, 2011; Wheeler & Thornton, 2007).
#15. Correction of ClC-1 splicing eliminates chloride ... - JCI
Lueck, J.D., Mankodi, A., Swanson, M.S., Thornton, C.A., Dirksen, R.T. 2007. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J.
#16. Myotonic dystrophy - Genetics - MedlinePlus
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. Explore symptoms, inheritance, genetics of this condition.
#17. Myotonic Dystrophy Center | University at Albany
Part of the RNA Institute's myotonic dystrophy research team are, left to right, ... Dr, Thornton's work focuses on understanding myotonic dystrophy and the ...
#18. Myotonic Dystrophy in Transgenic Mice Expressing ... - Science
Myotonic dystrophy (DM), the most common form of muscular dystrophy in ... Thornton C. A., Wymer J. P., Simmons Z., McClain C., Moxley R. T., Nature Genet.
#19. Laboratory Abnormalities in Patients With Myotonic Dystrophy ...
Background Myotonic dystrophy type 2 (DM2) is a recently discovered adult muscular dystrophy. ... Thornton CA, Griggs RC, Moxley RT III. Myotonic dystrophy ...
#20. Myotonic Dystrophy | Pediatric Orthopaedic Society of North ...
Myotonic dystrophies (dystrophia myotonica, DM) are a set of diseases that ... of DM1 patients may present with the severe congenital form (Thornton, 2014).
#21. Nuclear RNA Foci in the Heart in Myotonic Dystrophy - AHA ...
The disease mechanism underlying myotonic dystrophy type 1 (DM1) ... Correspondence to Charles A. Thornton, MD, Department of Neurology, Box 673, ...
#22. Myotonic Dystrophy Type 2: An Update on Clinical Aspects ...
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by ... Thornton CA, Griggs RC, Moxley RT3rd1994Myotonic dystrophy with no ...
#23. Cell Membrane Integrity in Myotonic Dystrophy Type 1 - PLOS
Myotonic Dystrophy type 1 (DM1) is a multisystemic disease caused by toxic ... Warf MB, Nakamori M, Matthys CM, Thornton CA, Berglund JA.
#24. Targeting Myotonic Dystrophy Type 1 with Metformin - MDPI
Keywords: myotonic dystrophy; metformin; therapeutic strategies; aging ... Thornton, C.A.; Griggs, R.C.; Moxley, R.T. Myotonic dystrophy ...
#25. Antisense oligonucleotide treatment for myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is a relatively common form of muscular dystrophy. ... Search 124 grants from Charles Thornton
#26. Transplantation studies reveal internuclear transfer of toxic ...
Here we performed studies to determine whether myotonic dystrophy 1 (DM1), ... were kindly provided by Dr. Charles Thornton (University of ...
#27. Pathogenic mechanisms of myotonic dystrophy - Portland Press
DM (myotonic dystrophy) is a dominantly inherited genetic disorder that is the most common cause of muscular dystrophy in adults affecting 1 ...
#28. Muscle Chloride Channel Dysfunction in Two Mouse Models ...
Charles A. Thornton, ... Myotonic dystrophy type 1 (DM1) is the most common adult-onset form of muscular dystrophy with an estimated ...
#29. Consensus-based care recommendations for adults with ...
... Ralf Krahe, Anna Lusakowska, Giovanni Meola, Richard Moxley, Charles Thornton, Bjarne Udd, Paul Formaker, on behalf of the Myotonic Dystrophy Foundation.
#30. Video - Myotonic Dystrophy Support Group
Video on Demand. General Myotonic Dystrophy Genetics by Prof David Brook ... Understanding the Science of Myotonic Dystrophy, Dr Charles Thornton, M D ...
#31. Design of a Bioactive Small Molecule That Targets the ...
Myotonic dystrophy type 1 (DM1) is a triplet repeating disorder caused by ... Charles A. Thornton - Department of Neurology, University of ...
#32. GSK3β is a new therapeutic target for myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1), an incurable, neuromuscular disease, ... The authors are thankful to Dr Charles Thornton (University of Rochester) for ...
#33. New Drug Development of Myotonic Muscular Dystrophy
Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 2001;56:328-35. 4. Thornton C. Myotonic dystrophy. Neurol Clin ...
#34. Myotonic dystrophy - Wikipedia
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In myotonic dystrophy ...
#35. 3,000 Researchers: Muscular Dystrophy - YouTube
Dr. Charles Thornton studies myotonic dystrophy – a common adult form of muscular dystrophy. Working with patients, their families, ...
#36. OMIM Entry - # 160900 - MYOTONIC DYSTROPHY 1; DM1
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG ...
#37. Myotonic Dystrophy Article - StatPearls
There are two distinct forms of myotonic dystrophy: DM1 and DM2. Treatment involves an interprofessional approach managing the medical ...
#38. FVB/N-Tg(HSA*LR)20bCath/J - The Jackson Laboratory
Myotonic dystrophy (DM) is the result of an expansion of a CTG repeat in ... The HSA LR20b transgene was designed by Dr. Charles A. Thornton ...
#39. Treatment neutralizes muscular dystrophy in mice | Reuters
Thornton said unlike many inherited diseases in which faulty genes make faulty or missing proteins, myotonic dystrophy makes a toxic form of ...
#40. Chloride channelopathy in myotonic dystrophy resulting from ...
A transgenic mouse model of myotonic dystrophy type 1 (DM1) displays decreased ... Stephen L. Welle; ,; Robert T. Dirksen; , and; Charles A. Thornton.
#41. Myotonic Dystrophy - DynaMed
myotonic dystrophy type 1 (DM1), caused by autosomal dominant mutation of DMPK gene, has 4 clinical phenotypes ... GeneReviews 2013 July 3; Thornton CA.
#42. Cutaneous findings in myotonic dystrophy - JAAD International
The most common cutaneous manifestations of myotonic dystrophy are ... Mueller C.M.; Hilbert J.E.; Martens W. Thornton C.A.; Moxley R.T. ...
#43. Myotonic Dystrophy - Neurologic Clinics
Charles A. Thornton, MD. EPIDEMIOLOGY. A population-based screen to determine the genetic frequency of myotonic dystrophy. (DM) is technically feasible but ...
#44. Correction of Glycogen Synthase Kinase 3β in Myotonic ...
Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease ... were obtained from C. A. Thornton (University of Rochester).
#45. Disease awareness in myotonic dystrophy type 1
Myotonic dystrophy type 1 (Steinert's disease or DM1), ... Perani D, Colleluori A, Cappa S, Cotelli M, Fazio F, Thornton CA, Moxley RT.
#46. Myotonic dystrophy: Emerging mechanisms for DM1 and DM2
Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG ... [25] C.A. Thornton, R.C. Griggs, R.T. Moxley, 3rd, Myotonic dystrophy ...
#47. Myotonic dystrophy (Chapter 18) - Disorders of Voluntary Muscle
Charles Thornton. The clinical, genetic, and pathophysiological complexities of myotonic dystrophy have been defined over the 100 years since it was ...
#48. New Preclinical Data from Dyne Therapeutics' Myotonic
Dr. Thornton directs the Muscular Dystrophy Cooperative Research Center in Rochester and the Myotonic Dystrophy Clinical Research Network, ...
#49. (CCUG)n RNA toxicity in a Drosophila model of myotonic ...
The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. ... disease (Osborne and Thornton, 2006; Klein et al., 2011; Sicot and.
#50. Molecular Genetics and Genetic Testing in Myotonic ... - Hindawi
Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, ... C. A. Thornton, K. Johnson, and R. T. Moxley III, “Myotonic dystrophy ...
#51. Myotonic Dystrophy - ResearchGate
... Myotonic dystrophy type 1 (DM1) is a multisystemic and autosomal dominant hereditary disease mainly characterized by progressive distal muscle weakness and ...
#52. Epidemiological and Genetic Studies of Myotonic Dystrophy ...
Keywords: PrevalenceCTG trinucleotide repeatMyotonic dystrophy type 1Genetic ... Simmons Z, Thornton CA, Seltzer WK, Richards CS: Relative ...
#53. Epigenetics of the myotonic dystrophy-associated DMPK gene ...
Aim: Identify epigenetic marks in the vicinity of DMPK (linked to myotonic dystrophy, DM1) that help explain tissue-specific differences in ...
#54. Myotonic dystrophy - wikidoc
... Thornton CA (2007). "Correction of CIC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy" ...
#55. Myotonic dystrophy with no trinucleotide repeat expansion
The demonstration of normal CTG repeat number for the myotonic dystrophy gene does not exclude the diagnosis of ... Thornton CA, Griggs RC, Moxley RT 111.
#56. In Focus: Myotonic Muscular Dystrophy
(interview with researcher Charles Thornton) by Margaret Wahl ... The diagnosis was myotonic dystrophy, also known as myotonic muscular dystrophy.
#57. Team deciphers how myotonic dystrophy generates lethal ...
In a new study, researchers traced the molecular events that lead to heart abnormalities in myotonic dystrophy and recreated the disease in ...
#58. scholar.google.com/scholar_lookup?hl=en&volume=35&...
沒有這個頁面的資訊。
#59. Genetic Instabilities and Neurological Diseases
Jiang, H., Mankodi, A., Swanson, M. S., Moxley, R. T., and Thornton, C. A. (2004). Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, ...
#60. Genome and Disease - 第 80 頁 - Google 圖書結果
22 Thornton CA, Griggs RC, Moxley RT: Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269–272. 23 Ricker K, Koch M, ...
#61. Muscular Dystrophy - 第 520 頁 - Google 圖書結果
"Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to ... Mankodi, A., X. Lin, B. C. Blaxall, M. S. Swanson & C. A. Thornton (2005).
#62. REVIEW ARTICLE Myotonic Dystrophy: RNA Pathogenesis ...
Muscle dys- function is the most common presenting complaint in both DM1 and DM2 (Moxley 1996; Day et al. 1999,. 2003; Ricker 1999; Thornton 1999; Harper 2001), ...
#63. Myotonic dystrophy สัญญาณ อาการและพันธุศาสตร์
Myotonic dystrophy เป็นโรคกล้ามเนื้อเสื่อมซึ่งเป็นกลุ่มของความผิดปกติทางพันธุกรรมในระยะ ... Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, ...
#64. Myotonic dystrophy disrupts normal control of gene ...
This cartoon describes the activity of MEF2 on cardiac muscle cells, both in healthy hearts and in those with myotonic dystrophy.
#65. Myotonic Dystrophy
Myotonic Dystrophy or dystrophia myotonica (DM) is a genetic disease characterized by progressive muscle degeneration. DM is divided into two types: type 1 ...
#66. Research - Cure Myotonic Dystrophy UK Charity
Cure DM is a registered charity which provides help and support to those living with Myotonic Dystrophy. We arrange get togethers and enable ...
#67. Myotonic dystrophy - VisualDx
Myotonic dystrophy type 1 has distal weakness, with myotonia prominent in the hands; type 2 has proximal muscle weakness (also called PROMM ...
#68. Myotonic Dystrophy Research Driven by Personal Struggle
Wang's father suffered from myotonic dystrophy, the most common kind ... A hallmark symptom is myotonia — difficulty relaxing muscles after ...
#69. Myotonic Muscular Dystrophy (DM) - The Loop community
Myotonic Dystrophy (DM), sometimes called Steinert's Disease, is the most common form of adult muscular dystrophy (a group of diseases that cause your ...
#70. Neuromuscular Disorders in Clinical Practice
Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2 ...
#71. Myotonic Dystrophy: Disease Mechanism, Current Management ...
Myotonic dystrophy type 2. GeneReviews. 1993–2017. 14. Thornton CA. Myotonic dystrophy. Neurol Clin. 2014;32(3):705–19. viii 15. Turner C, Hilton-Jones D.
#72. https://researcherprofiles.org/profile/151619
沒有這個頁面的資訊。
thornton myotonic dystrophy 在 3,000 Researchers: Muscular Dystrophy - YouTube 的推薦與評價
Dr. Charles Thornton studies myotonic dystrophy – a common adult form of muscular dystrophy. Working with patients, their families, ... ... <看更多>