Gurgel-Giannetti J - Search Results

1

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.

2

Nebulin expression in patients with nemaline myopathy.

Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M. Gurgel-Giannetti J, et al. Neuromuscul Disord. 2001 Mar;11(2):154-62. doi: 10.1016/s0960-8966(00)00177-2. Neuromuscul Disord. 2001. PMID: 11257471

3

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.

Gurgel-Giannetti J, Bang ML, Reed U, Marie S, Zatz M, Labeit S, Vainzof M. Gurgel-Giannetti J, et al. Muscle Nerve. 2002 May;25(5):747-752. doi: 10.1002/mus.10097. Muscle Nerve. 2002. PMID: 11994971

4

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.

Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, Oliveira AS, Werneck LC, Beggs AH, Zatz M, Vainzof M. Gurgel-Giannetti J, et al. J Child Neurol. 2003 Mar;18(3):235-40. doi: 10.1177/08830738030180031501. J Child Neurol. 2003. PMID: 12731651

5

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.

Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M. Tonini MM, et al. J Med Genet. 2004 Feb;41(2):e17. doi: 10.1136/jmg.2003.010637. J Med Genet. 2004. PMID: 14757867 Free PMC article. No abstract available.

6

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

7

Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.

Muniz VP, Senkevics AS, Zilbersztajn D, Gurgel-Giannetti J, Silva HC, Yamamoto LU, Pavanello RC, Pearson PL, Zatz M, Vainzof M. Muniz VP, et al. Muscle Nerve. 2010 Mar;41(3):427-8. doi: 10.1002/mus.21548. Muscle Nerve. 2010. PMID: 19918890 No abstract available.

8

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M. Gurgel-Giannetti J, et al. Muscle Nerve. 2012 Feb;45(2):279-83. doi: 10.1002/mus.22252. Muscle Nerve. 2012. PMID: 22246887

9

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M. Gurgel-Giannetti J, et al. Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20. Neuromuscul Disord. 2012. PMID: 22264517

10

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

Gurgel-Giannetti J, Oliveira G, Brasileiro Filho G, Martins P, Vainzof M, Hirano M. Gurgel-Giannetti J, et al. JAMA Neurol. 2013 Feb;70(2):258-61. doi: 10.1001/jamaneurol.2013.595. JAMA Neurol. 2013. PMID: 23407777 Free PMC article. Review.

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