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4 results on '"Thompson, Mone’t"'

2. Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

Author

Wang, Youjin, primary, Best, Ana, additional, Fernández‐Torrón, Roberto, additional, Alsaggaf, Rotana, additional, Garcia‐Puga, Mikel, additional, Dagnall, Casey L., additional, Hicks, Belynda, additional, Thompson, Mone’t, additional, Matheu Fernandez, Ander, additional, Zulaica Ijurco, Miren, additional, Greene, Mark H., additional, Lopez de Munain, Adolfo, additional, and Gadalla, Shahinaz M., additional

Published
2019
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3. Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

Author

Neurociencias, Neurozientziak, Wang, Youjin, Best, Ana, Fernández Torrón, Roberto, Alsaggaf, Rotana, Garcia Puga, Mikel, Dagnall, Casey L., Hicks, Belynda, Thompson, Mone’t, Matheu Fernández, Ander, Zulaica Ijurco, Miren, Greene, Mark H., López de Munain Arregui, Adolfo José, Gadalla, Shahinaz M., Neurociencias, Neurozientziak, Wang, Youjin, Best, Ana, Fernández Torrón, Roberto, Alsaggaf, Rotana, Garcia Puga, Mikel, Dagnall, Casey L., Hicks, Belynda, Thompson, Mone’t, Matheu Fernández, Ander, Zulaica Ijurco, Miren, Greene, Mark H., López de Munain Arregui, Adolfo José, and Gadalla, Shahinaz M.

Abstract

Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in baseline leukocyte relative telomere length (RTL) was noted, the data suggested an accelerated RTL attrition in DM1 (discovery cohort: T/S change/year = -0.013 in DM1 vs. -0.005 in controls, P = 0.04); similar trend was noted in validation cohort. Further investigations are needed to examine the role of TL in the pathophysiology of DM1.

Published
2019

4. Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.

Author

Wang, Youjin, Best, Ana, Fernández‐Torrón, Roberto, Alsaggaf, Rotana, Garcia‐Puga, Mikel, Dagnall, Casey L., Hicks, Belynda, Thompson, Mone't, Matheu Fernandez, Ander, Zulaica Ijurco, Miren, Greene, Mark H., Lopez de Munain, Adolfo, and Gadalla, Shahinaz M.

Subjects
MYOTONIA atrophica, LEUCOCYTES, PREMATURE aging (Medicine), PILOT projects, PATHOLOGICAL physiology
Abstract

Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in baseline leukocyte relative telomere length (RTL) was noted, the data suggested an accelerated RTL attrition in DM1 (discovery cohort: T/S change/year = −0.013 in DM1 vs. −0.005 in controls, P = 0.04); similar trend was noted in validation cohort. Further investigations are needed to examine the role of TL in the pathophysiology of DM1. [ABSTRACT FROM AUTHOR]

Published
2020
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