Silva HC - Search Results

1

Telethonin protein expression in neuromuscular disorders.

Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M. Vainzof M, et al. Among authors: silva hc. Biochim Biophys Acta. 2002 Oct 9;1588(1):33-40. doi: 10.1016/s0925-4439(02)00113-8. Biochim Biophys Acta. 2002. PMID: 12379311 Free article.

2

Magnetic resonance imaging in five patients with a tumefactive demyelinating lesion in the central nervous system.

Silva HC, Callegaro D, Marchiori PE, Scaff M, Tsanaclis AM. Silva HC, et al. Arq Neuropsiquiatr. 1999 Dec;57(4):921-6. doi: 10.1590/s0004-282x1999000600004. Arq Neuropsiquiatr. 1999. PMID: 10683680

3

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. Among authors: silva hc. Genet Test. 2000;4(4):383-6. doi: 10.1089/109065700750065135. Genet Test. 2000. PMID: 11216663

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. Among authors: silva hc. J Mol Neurosci. 2003;21(1):35-42. doi: 10.1385/JMN:21:1:35. J Mol Neurosci. 2003. PMID: 14500992

5

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

6

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M. Nishimura AL, et al. Among authors: silva hc. Am J Hum Genet. 2004 Nov;75(5):822-31. doi: 10.1086/425287. Epub 2004 Sep 15. Am J Hum Genet. 2004. PMID: 15372378 Free PMC article.

7

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. Among authors: silva hc. Muscle Nerve. 2007 May;35(5):670-4. doi: 10.1002/mus.20715. Muscle Nerve. 2007. PMID: 17226826

8

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M. Arashiro P, et al. Among authors: silva hc. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6220-5. doi: 10.1073/pnas.0901573106. Epub 2009 Apr 1. Proc Natl Acad Sci U S A. 2009. PMID: 19339494 Free PMC article.

9

Human adipose tissue derived pericytes increase life span in Utrn (tm1Ked) Dmd (mdx) /J mice.

Valadares MC, Gomes JP, Castello G, Assoni A, Pellati M, Bueno C, Corselli M, Silva H, Bartolini P, Vainzof M, Margarido PF, Baracat E, Péault B, Zatz M. Valadares MC, et al. Stem Cell Rev Rep. 2014 Dec;10(6):830-40. doi: 10.1007/s12015-014-9537-9. Stem Cell Rev Rep. 2014. PMID: 24943487

10

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. Among authors: silva hc. BMC Res Notes. 2014 Aug 1;7:487. doi: 10.1186/1756-0500-7-487. BMC Res Notes. 2014. PMID: 25084811 Free PMC article.

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