Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Katherine G. Meilleur"'
Autor:
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1). RyR1 is the sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-con
Externí odkaz:
https://doaj.org/article/eaee208d483c458182ce30c47fd601c7
Autor:
Yunfeng Huang, Dora Bodnar, Chia-Yen Chen, Gabriela Sanchez-Andrade, Mark Sanderson, Biogen Biobank Team, Jun Shi, Katherine G. Meilleur, Matthew E. Hurles, Sebastian S. Gerety, Ellen A. Tsai, Heiko Runz
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)
Abstract Muscle strength is highly heritable and predictive for multiple adverse health outcomes including mortality. Here, we present a rare protein-coding variant association study in 340,319 individuals for hand grip strength, a proxy measure of m
Externí odkaz:
https://doaj.org/article/de6b6e551a394c89b17455966b598956
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Aberrations to endoplasmic/sarcoplasmic reticulum (ER/SR) calcium concentration can result in the departure of endogenous proteins in a phenomenon termed exodosis. Redistribution of the ER/SR proteome can have deleterious effects
Externí odkaz:
https://doaj.org/article/fd93747235684bd5a467c03348f87f42
Autor:
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-16 (2020)
Abstract The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to
Externí odkaz:
https://doaj.org/article/94e0bf7a004048e1962b07df5b775e8b
Publikováno v:
Genes, Vol 13, Iss 1, p 109 (2022)
The recent advances in nucleic acid therapeutics demonstrate the potential to treat hereditary neurological disorders by targeting their causative genes. Spinal and bulbar muscular atrophy (SBMA) is an X-linked and adult-onset neurodegenerative disor
Externí odkaz:
https://doaj.org/article/1453dda548ef405fa6cd0a2f8c251975
Autor:
Jessica W. Witherspoon, Julie S. Rekant, Paul G. Wakim, Ruhi Vasavada, Melissa Waite, Irene Chrismer, Monique O. Shelton, Minal S. Jain, Katherine G. Meilleur
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Introduction: Individuals affected with ryanodine receptor isoform-1-related myopathies (RYR1-RM) commonly experience fatigability in the quadriceps, which may limit physical function and potentially diminish quality of life. Fatigability, in RYR1-RM
Externí odkaz:
https://doaj.org/article/2332426aca8e4a13a65f55db0ad0f50c
Autor:
Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the ryanodine receptor
Externí odkaz:
https://doaj.org/article/35dd110ffd0f450fb05f58c70a6a3ac6
Autor:
Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, Adama Sissoko, Kekouta Dembele, Youlouza Coulibaly, Siaka Y. Coulibaly, Guida Landoure, Abdallah Diallo, Mamadou Dolo, Housseini Dolo, Boubacar Maiga, Moussa Traore, Mamadou Karembe, Kadiatou Traore, Amadou Toure, Mariam Sylla, Arouna Togora, Souleymane Coulibaly, Sékou Fantamady Traore, Brant Hendrickson, Katherine Bricceno, Alice B. Schindler, Angela Kokkinis, Katherine G. Meilleur, Hammadoun Ali Sangho, Brehima Diakite, Yaya Kassogue, Yaya Ibrahim Coulibaly, Barrington Burnett, Youssoufa Maiga, Seydou Doumbia, Kenneth H. Fischbeck
Publikováno v:
eNeurologicalSci, Vol 3, Iss C, Pp 17-20 (2016)
Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SM
Externí odkaz:
https://doaj.org/article/398cea98f58a47b7bc911dd309ab2e9b
Autor:
Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, Katherine G. Meilleur
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint co
Externí odkaz:
https://doaj.org/article/00dd881aa9694ede8ed4875c6ede7607
Autor:
Christopher Grunseich, M. Waite, Joshua J. Todd, Aneesh Patankar, Jessica W Witherspoon, Katherine G. Meilleur, Irene C Chrismer, Xuemin Zhang, Muslima S Razaqyar, Tokunbor A. Lawal, Minal Jain, Magalie Emile-Backer, Chia-Ying Liu
Publikováno v:
Journal of Neuromuscular Diseases
Background: Ryanodine receptor 1-related myopathy (RYR1-RM) can present with a selective pattern and gradient of intramuscular fatty infiltration (IMFI) on magnetic resonance imaging (MRI). Objective: To demonstrate an automated protocol for quantifi