Rita M. Pavanello

Sao Paulo, SP 05508220, Brazil

Last Updated: 09/26/2026

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Found 16 publications

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Journal: International journal of molecular sciences

Published: August 24, 2022

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.

Journal: International journal of neonatal screening

Published: May 19, 2021

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: November 23, 2020

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.

Journal: Journal of molecular neuroscience : MN

Published: July 23, 2020

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.

Journal: Neurology. Genetics

Published: February 21, 2020

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

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

Journal: Disease models & mechanisms

Published: June 28, 2019

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

Journal: Frontiers in genetics

Published: February 15, 2018

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

Journal: JCI insight

Published: December 19, 2017

Central core myopathy with autophagy.

Central core myopathy with autophagy.

Journal: Muscle & nerve

Published: September 19, 2016

Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers.

Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers.

Journal: Neuromuscular disorders : NMD

Published: August 06, 2015

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin.

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin.

Journal: Neuromuscular disorders : NMD

Published: May 21, 2014

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.

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.

Journal: BMC research notes

Published: February 11, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026