Zobrazeno 1 - 10 of 17 pro vyhledávání: '"Irene C, Chrismer"'
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Akademický článek
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trialResearch in context
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
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2
Akademický článek
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies
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
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3
Akademický článek
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings
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
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4
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3d4f37ce32baafb3c372f647ecc21e3
https://doi.org/10.3233/jnd-200549
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5
Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry
Autor: Carsten G. Bönnemann, Tokunbor A. Lawal, Fatoumata Tounkara, Katherine G. Meilleur, Roxanna M. Bendixen, M. Waite, John P Collins, Jeffrey S Elliott, Irene C Chrismer, Jessica W Witherspoon, Melody M. Linton, Minal Jain, Carmel Nichols, Megan Andres, Carole Vuillerot, Joshua J. Todd
Publikováno v: Journal of Neuroscience Nursing. 52:172-178
Background When tested in a controlled clinic environment, individuals with neuromuscular-related symptoms may complete motor tasks within normal predicted ranges. However, measuring activity at home may better reflect typical motor performance. The
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c1801d7ac4d73f61479046fdde7e36
https://doi.org/10.1097/jnn.0000000000000519
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7
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders
Autor: Ruhi Vasavada, Katherine G. Meilleur, Minal S. Jain, Jeffery Elliott, Bart Drinkard, M. Waite, Tokunbor A. Lawal, Jessica W Witherspoon, Carsten G. Bönnemann, Monique O Shelton, Joshua J. Todd, Muslima S Razaqyar, Irene C Chrismer, Darren Michael, Anna Kuo, Alicia Richarte
Publikováno v: Journal of Neuromuscular Diseases. 6:133-141
RYR1-related disorders (RYR1-RD), are a spectrum of genetic neuromuscular disorders. Affected individuals frequently experience fatigue yet appropriate tools to assess RYR1-RD-associated fatigue remain underdeveloped.This study assessed the reliabili
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dddc64cd18da1d6452f4b5cbdbaf24cb
https://doi.org/10.3233/jnd-180335
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8
Development of a proxy-reported scale to assess motor function in infants and young children with early-onset neuromuscular disorders
Autor: Mary M. Cosgrove, Irene C Chrismer, Magalie Emile-Backer, Carlos Capella-Peris, Monique O Shelton, Katherine G. Meilleur, Roxanna M. Bendixen
Publikováno v: J Adv Nurs
To develop a novel proxy-reported scale of motor function in infants and young children with early-onset neuromuscular disorders (NMD), entitled the Proxy Motor Outcome Measure (PMOM).A mixed method design was employed, applying both qualitative and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd147e1c11d87cba52882203b0b9e37c
https://pubmed.ncbi.nlm.nih.gov/33270262
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9
Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy
Autor: Mary M. Cosgrove, Jeffrey S Elliott, M Sonia Razaqyar, Katherine G. Meilleur, Magalie Emile-Backer, Carlos Capella-Peris, Anna Kuo, Irene C Chrismer, Paul Wakim
Publikováno v: Qual Life Res
Capella Peris, Carlos Cosgrove, Mary Margaret Chrismer, Irene C. Backer, Magalie Emile Razaqyar, M. Sonia Elliott, Jeffrey S. Kuo, Anna Wakim, Paul G. Meilleur, Katherine G. 2020 Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy Quality of Life Research 29 6 1641 1653
RODERIC: Repositorio Institucional de la Universitat de Valéncia
instname
RODERIC. Repositorio Institucional de la Universitat de Valéncia
Purpose: To characterize Health-Related Quality of Life (HRQoL) in ambulant individuals with RYR1-RM and to determine if a qualitative PRO tool (subjective self-assessment) complements PROMIS and Neuro-QoL scales to detect changes in HRQoL in ambulan
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f60430a0c62a2eec657dd71f89d56d0
https://europepmc.org/articles/PMC7728916/
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10
Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants' experience
Autor: M Sonia Razaqyar, Katherine G. Meilleur, Mary M. Cosgrove, Carlos Capella-Peris, Irene C Chrismer, Jeffrey S Elliott, Anna Kuo, Magalie Emile-Backer
Publikováno v: Capella Peris, Carlos Cosgrove, Mary Margaret Chrismer, Irene C. Razaqyar, M. Sonia Elliott, Jeffrey S. Kuo, Anna Backer, Magalie Emile Meilleur, Katherine G. 2020 Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants' experience Patient-Patient Centered Outcomes Research 13 4 423 434
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Patient
RODERIC: Repositorio Institucional de la Universitat de Valéncia
Background: In rare diseases such as ryanodine receptor 1-related myopathies (RYR1-RM), health-related quality of life (HRQoL) measures are critically important so clinicians and researchers can better understand what symptoms are most important to p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b97e8ac57e9cf5c051f5f8831c4d6a
https://doi.org/10.1007/s40271-020-00418-7
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