Publications by authors named "Ana Cotta"

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Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
Tobias Gaviraghi, Eduardo B U Cavalcanti, Paulo José Lorenzoni, Ana Cotta, Paulo V S de Souza

Clin Genet· November 2024

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Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha

Genes (Basel)· April 2022

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Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency.
Ana Cotta, Elmano Carvalho, AntonioLopes da-Cunha-Junior, Mônica Machado Navarro, Julia Filardi Paim

Neuromuscul Disord· June 2021

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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Denisa Hathazi, Helen Griffin, Matthew J Jennings, Michele Giunta, Christopher Powell, Ana Cotta

EMBO J· December 2020

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Dominant or recessive mutations in the gene causing central core myopathy in Brazilian patients.
Leonardo Galleni Leão, Lucas Santos Souza, Letícia Nogueira, Rita de Cássia Mingroni Pavanello, Juliana Gurgel-Giannetti, Ana Cotta

Acta Myol· December 2020

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Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Junior, Monica M Navarro, Miriam M Menezes

J Neurol Sci· August 2020

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Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic variants, including a large intragenic deletion.
Ana Cotta, Charlotte L Alston, Sidney Baptista-Junior, Julia F Paim, Elmano Carvalho

JIMD Rep· July 2020

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LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.
Ana Cotta, Julia F Paim, Elmano Carvalho, Jaquelin Valicek, Antonio L da Cunha Junior

J Mol Neurosci· December 2019

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Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Pablo B Winckler, André M S da Silva, Antônio R Coimbra-Neto, Elmano Carvalho, Eduardo B U Cavalcanti, Ana Cotta

Clin Genet· October 2019

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Limb Length Discrepancy on an 11-Month-Old Boy with Osteoid Osteoma.
Ana Cotta, Renato Cesar Rezende de Castro, Julia Filardi Paim, Leonardo Sardenberg Fiuza, Maria Henriqueta Freire Lyra

Rev Bras Ortop (Sao Paulo)· April 2019

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The relative frequency of common neuromuscular diagnoses in a reference center.
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M Navarro

Arq Neuropsiquiatr· November 2017

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Central core myopathy with autophagy.
Ana Cotta, Julia F Paim, Rita De C M Pavanello, Leticia Nogueira, Leonardo G Leão

Muscle Nerve· August 2017

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Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.
Ana Cotta, Julia Filardi Paim, Elmano Carvalho, Mônica Machado Navarro, Jaquelin Valicek

Can J Neurol Sci· May 2017

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Muscle Biopsy Reporting.
Ana Cotta, Julia Filardi Paim

Arch Pathol Lab Med· September 2016

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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.
Ana Cotta, Julia Filardi Paim, Antonio Lopes da-Cunha-Junior, Rafael Xavier Neto, Simone Vilela Nunes

BMC Clin Pathol· October 2014

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Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M Navarro

Arq Neuropsiquiatr· September 2014

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Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.
Julia F Paim, Ana Cotta, Antonio P Vargas, Monica M Navarro, Jaquelin Valicek

J Mol Neurosci· June 2013

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Diagnosis of mycosis fungoides: a comparative immunohistochemical study of T-cell markers using a novel anti-CD7 antibody.
Ana Cristina Cotta, Maria Letícia Cintra, Elemir Macedo de Souza, Cristiano Aparecido Chagas, Luis Alberto Magna

Appl Immunohistochem Mol Morphol· September 2006

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Reassessment of diagnostic criteria in cutaneous lymphocytic infiltrates.
Ana Cristina Cotta, Maria Letícia Cintra, Elemir Macedo de Souza, Luis Alberto Magna, José Vassallo

Sao Paulo Med J· July 2004

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Prostatic atrophy: evidence for a possible role of local ischemia in its pathogenesis.
Luciana R Meirelles, Athanase Billis, Ana C S Cotta, Rui T Nakamura, Nelson M G Caserta

Int Urol Nephrol· January 2004

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