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Mariz Vainzof

Explore the profile of Mariz Vainzof including associated specialties, affiliations and a list of published articles. Areas
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Articles 91
Citations 1061
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Recent Articles
1.
Santos R, Lima L, Andrade P, Santos J, Galleni L, Junior A, et al.
Heliyon . 2025 Feb; 11(2):e41776. PMID: 39911440
Background: Hypermobility is the capacity to perform joint movements in amplitudes greater than normal. Hypermobility is present in nearly 100 % of congenital myopathy central core disease (CCD) patients but...
2.
de Vasconcelos F, Souza B, Souza L, Vainzof M
Methods Mol Biol . 2024 Sep; PMID: 39316334
Tubular aggregates (TA) are skeletal muscle structures that arise from the progressive accumulation of sarcoplasmic reticulum proteins, mainly with aging. Muscle regeneration plays a role in TA formation. TA quantification...
3.
Ribeiro Junior A, Souza B, Vainzof M
Methods Mol Biol . 2024 Aug; PMID: 39162976
Regeneration is a remarkable characteristic of the skeletal muscle. Triggered by common lesions, regeneration is stimulated resulting in muscle fiber repair and restoration of muscle homeostasis in normal muscle. In...
4.
de Vasconcelos F, Ribeiro Junior A, Souza B, Zogbi I, Carvalho L, Feitosa L, et al.
Front Neurol . 2024 Feb; 15:1325222. PMID: 38343710
Introduction: Tubular aggregates (TA) are skeletal muscle structures that arise from the progressive accumulation of sarcoplasmic reticulum proteins. Cytoplasmic aggregates in muscle fibers have already been observed in mice and...
5.
Andrade P, Santos J, Teixeira A, Sogari V, Almeida M, Callegari F, et al.
Genes (Basel) . 2023 Jul; 14(7). PMID: 37510264
Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene () pathogenic variants. We...
6.
Fontelonga T, Hall A, Brown J, Jung Y, Alexander M, Dominov J, et al.
Adv Biol (Weinh) . 2023 Jul; 7(12):e2300157. PMID: 37434585
Tetraspanins organize protein complexes at the cell membrane and are responsible for assembling diverse binding partners in changing cellular states. Tetraspanin CD82 is a useful cell surface marker for prospective...
7.
Gurgel-Giannetti J, Souza L, Yamamoto G, Belisario M, Lazar M, Campos W, et al.
Int J Mol Sci . 2022 Oct; 23(19). PMID: 36233295
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation...
8.
de Mello J, Andrade P, Santos J, Oliveira A, Vainzof M, Amaral J, et al.
Braz J Anesthesiol . 2022 Jul; 73(2):145-152. PMID: 35835312
Introduction: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and...
9.
Cotta A, Souza L, Carvalho E, Feitosa L, Cunha Jr A, Navarro M, et al.
Genes (Basel) . 2022 May; 13(5). PMID: 35627144
Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the...
10.
Comim C, Soares J, Alberti A, Freiberger V, Ventura L, Dias P, et al.
Neurol Sci . 2022 Mar; 43(11):6613. PMID: 35353268
No abstract available.