Colleen C Muraresku
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Explore the profile of Colleen C Muraresku including associated specialties, affiliations and a list of published articles.
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9
Citations
119
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Recent Articles
1.
Muraresku C, McCormick E, Rockart L, Crowley T, Asher S, Back A, et al.
Genes (Basel)
. 2024 Jul;
15(7).
PMID: 39062646
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the...
2.
MacMullen L, George-Sankoh I, Stanley K, McCormick E, Muraresku C, Goldstein A, et al.
Mol Genet Metab
. 2024 Feb;
142(1):108348.
PMID: 38387305
Purpose: Optimizing individualized clinical care in heterogeneous rare disorders, such as primary mitochondrial disease (PMD), will require gaining more comprehensive and objective understanding of the patient experience by longitudinally tracking...
3.
Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku C, et al.
JCSM Clin Rep
. 2022 Jan;
6(4):109-127.
PMID: 35071983
Background: 'Mitochondrial Myopathy' (MM) refers to genetically-confirmed Primary Mitochondrial Disease (PMD) that predominantly impairs skeletal muscle function. Validated outcome measures encompassing core MM domains of muscle weakness, muscle fatigue, imbalance,...
4.
Wang J, Balciuniene J, Diaz-Miranda M, McCormick E, Aref-Eshghi E, Muir A, et al.
Mol Genet Metab
. 2021 Dec;
135(1):93-101.
PMID: 34969639
Mitochondrial disease diagnosis requires interrogation of both nuclear and mitochondrial (mtDNA) genomes for single-nucleotide variants (SNVs) and copy number alterations, both in the proband and often maternal relatives, together with...
5.
Pagnamenta A, Kaiyrzhanov R, Zou Y, Daas S, Maroofian R, Donkervoort S, et al.
Brain
. 2021 Feb;
144(2):584-600.
PMID: 33559681
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that...
6.
Madsen K, Buch A, Cohen B, Falk M, Goldsberry A, Goldstein A, et al.
Neurology
. 2020 Jan;
94(7):e687-e698.
PMID: 31896620
Objective: To investigate the safety and efficacy of escalating doses of the semi-synthetic triterpenoid omaveloxolone in patients with mitochondrial myopathy. Methods: In cohorts of 8-13, 53 participants were randomized double-blind...
7.
Muraresku C, McCormick E, Falk M
Curr Genet Med Rep
. 2018 Nov;
6(2):62-72.
PMID: 30393588
Purpose Of Review: Primary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to...
8.
McCormick E, Muraresku C, Falk M
Curr Genet Med Rep
. 2018 Nov;
6(2):52-61.
PMID: 30386685
Purpose Of Review: The groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in...
9.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, et al.
Am J Hum Genet
. 2016 May;
98(6):1249-1255.
PMID: 27236917
Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many...