Silva HCA - Search Results

1

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.

Andrade PV, Santos JM, Teixeira ACB, Sogari VF, Almeida MS, Callegari FM, Krepischi ACV, Oliveira ASB, Vainzof M, Silva HCA. Andrade PV, et al. Among authors: silva hca. Genes (Basel). 2023 Jun 27;14(7):1360. doi: 10.3390/genes14071360. Genes (Basel). 2023. PMID: 37510264 Free PMC article.

2

Idiopathic hyperCKemia and malignant hyperthermia susceptibility.

Santos JM, Andrade PV, Galleni L, Vainzof M, Sobreira CFR, Schmidt B, Oliveira ASB, Amaral JLG, Silva HCA. Santos JM, et al. Among authors: silva hca. Can J Anaesth. 2017 Dec;64(12):1202-1210. doi: 10.1007/s12630-017-0978-x. Epub 2017 Sep 26. Can J Anaesth. 2017. PMID: 28952030 English.

3

Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report.

Andrade PV, Souza LS, Santos JM, Alves JFF, Lutke C, Amaral JLG, Vainzof M, Silva HCA. Andrade PV, et al. Among authors: silva hca. Can J Anaesth. 2022 Mar;69(3):369-373. doi: 10.1007/s12630-021-02170-4. Epub 2021 Dec 13. Can J Anaesth. 2022. PMID: 34904211 English.

4

Screening for mutations in the RYR1 gene in families with malignant hyperthermia.

Muniz VP, Silva HC, Tsanaclis AM, Vainzof M. Muniz VP, et al. J Mol Neurosci. 2003;21(1):35-42. doi: 10.1385/JMN:21:1:35. J Mol Neurosci. 2003. PMID: 14500992

5

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

Kossugue PM, Paim JF, Navarro MM, Silva HC, Pavanello RC, Gurgel-Giannetti J, Zatz M, Vainzof M. Kossugue PM, et al. Muscle Nerve. 2007 May;35(5):670-4. doi: 10.1002/mus.20715. Muscle Nerve. 2007. PMID: 17226826

6

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

Cuperman T, Fernandes SA, Lourenço NC, Yamamoto LU, Silva HC, Pavanello RC, Yamamoto GL, Zatz M, Oliveira AS, Vainzof M. Cuperman T, et al. BMC Res Notes. 2014 Aug 1;7:487. doi: 10.1186/1756-0500-7-487. BMC Res Notes. 2014. PMID: 25084811 Free PMC article.

7

Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?

Vainzof M, Muniz VP, Tsanaclis AM, Silva HC, Rusticci MS. Vainzof M, et al. Genet Test. 2000;4(4):383-6. doi: 10.1089/109065700750065135. Genet Test. 2000. PMID: 11216663

8

Calpainopathy: how broad is the spectrum of clinical variability?

Starling A, de Paula F, Silva H, Vainzof M, Zatz M. Starling A, et al. J Mol Neurosci. 2003;21(3):233-6. doi: 10.1385/jmn:21:3:233. J Mol Neurosci. 2003. PMID: 14645990

9

Amyotrophic lateral sclerosis: considerations on diagnostic criteria.

Chieia MA, Oliveira AS, Silva HC, Gabbai AA. Chieia MA, et al. Arq Neuropsiquiatr. 2010 Dec;68(6):837-42. doi: 10.1590/s0004-282x2010000600002. Arq Neuropsiquiatr. 2010. PMID: 21243238 Free article.

10

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy.

Fernandes SA, Almeida CF, Souza LS, Lazar M, Onofre-Oliveira P, Yamamoto GL, Nogueira L, Tasaki LY, Cardoso RR, Pavanello RCM, Silva HCA, Ferrari MFR, Bigot A, Mouly V, Vainzof M. Fernandes SA, et al. Among authors: silva hca. Dis Model Mech. 2020 Jan 10;13(2):dmm041244. doi: 10.1242/dmm.041244. Dis Model Mech. 2020. PMID: 31826868 Free PMC article.

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