Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Juliana Gurgel Giannetti"'
Autor:
Rose Mary Ferreira Lisboa da Silva, Nathalia Mussi Monteze, Juliana Gurgel Giannetti, Zilda Maria Alves Meira
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 121, Iss 2 (2024)
Resumo Fundamento: Distrofia Muscular de Duchenne (DMD) é uma doença neuromuscular hereditária rara. O acometimento cardíaco inicial pode ser assintomático. Portanto, a avaliação por métodos não invasivos pode auxiliar sua abordagem. Objetiv
Externí odkaz:
https://doaj.org/article/79a15dacbef64ed6aae7c5f7e0fce313
Autor:
Gabriela Palhares Campolina Diniz, Laura Maria de Lima Belizário Facury Lasmar, Juliana Gurgel Giannetti
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 70, Iss 6, Pp 416-421 (2012)
OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD) in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the
Externí odkaz:
https://doaj.org/article/0f6ee6b4e66c4017a85043eb06b00da1
Autor:
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 74, Iss 11, Pp 909-913
ABSTRACT Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in th
Externí odkaz:
https://doaj.org/article/edfd006dc0874bbdbd983b4ffd96c718
Autor:
Alexandra Prufer de Queiroz Campos Araujo, Jonas Alex Morales Saute, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França Jr, Jaqueline Almeida Pereira, Marco Antonio Veloso de Albuquerque, Alzira Alves de Siqueira Carvalho, Eduardo Boiteux Uchôa Cavalcanti, Anna Paula Paranhos Miranda Covaleski, Simone Chaves Fagondes, Juliana Gurgel-Giannetti, Marcus Vinicius Magno Gonçalves, Alberto Rolim Muro Martinez, Antônio Rodrigues Coimbra Neto, Flavio Reis Neves, Anamarli Nucci, Ana Paula Cassetta dos Santos Nucera, Andre Luis Santos Pessoa, Marcos Ferreira Rebel, Flavia Nardes dos Santos, Rosana Herminia Scola, Cláudia Ferreira da Rosa Sobreira
Publikováno v:
Arquivos de Neuro-Psiquiatria. 81:081-094
In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df105f0051ee64c6ac05b73a3582143b
https://doi.org/10.1055/s-0043-1761466
https://doi.org/10.1055/s-0043-1761466
Autor:
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James J Dowling, Rosanna Weksberg
The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood–brain barrier. We have identified de novo heterozygous missense v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f5b7a48a2c525d610b1e49ea2bf631
https://www.repository.cam.ac.uk/handle/1810/344185
https://www.repository.cam.ac.uk/handle/1810/344185
Autor:
Leticia Pereira de Brito Sampaio, Maria Luiza Giraldes de Manreza, André Pessoa, Juliana Gurgel-Giannetti, Ana Carolina Coan, Hélio van der Linden Júnior, Emília Katiane Embiruçu, Adélia Maria de Miranda Henriques-Souza, Fernando Kok
Publikováno v:
Arquivos de Neuro-Psiquiatria, Volume: 81, Issue: 3, Pages: 284-295, Published: 19 MAY 2023
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years. The urge for earlier diagnosis increase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::180750d7118dd6a272bb31fdb8413a2a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2023000300284&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2023000300284&lng=en&tlng=en
Autor:
Aurélie Méneret, Shekeeb S. Mohammad, Laura Cif, Diane Doummar, Claudio DeGusmao, Mathieu Anheim, Magalie Barth, Philippe Damier, Nathalie Demonceau, Jennifer Friedman, Cécile Gallea, Domitille Gras, Juliana Gurgel‐Giannetti, Emily A. Innes, Ján Necpál, Florence Riant, Sandrine Sagnes, Catherine Sarret, Yury Seliverstov, Vijayashankar Paramanandam, Kuldeep Shetty, Christine Tranchant, Mohamed Doulazmi, Marie Vidailhet, Tamara Pringsheim, Emmanuel Roze
Publikováno v:
Movement Disorders
Movement Disorders, 2022, 37 (6), pp.1294-1298. ⟨10.1002/mds.29006⟩
Movement Disorders, 2022, 37 (6), pp.1294-1298. ⟨10.1002/mds.29006⟩
ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.The aim is to obtain further insight into th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5004457db37435320917da63dab35f2
https://doi.org/10.1002/mds.29006
https://doi.org/10.1002/mds.29006
Autor:
Guilherme Andrade, Sabrina Stephanie Lana Diniz, Beatriz Vilela Morais de Azevedo, Juliana Gurgel-Giannetti, Geraldo Brasileiro Filho, Renato Braulio, Zilda Maria Alves Meira, Juliana Rodrigues Soares Oliveira, Livia C. Uliana, Wilson Campos, Paulo Henrique Nogueira Costa, Marina Belisario Carvalhais, Lucas Santos Souza, Mariz Vainzof, Maria de Fátima Derlene
Publikováno v:
Neuromuscular Disorders. 31:1199-1206
Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f43887165848be4ff552fc87e078ad5b
https://doi.org/10.1016/j.nmd.2021.09.005
https://doi.org/10.1016/j.nmd.2021.09.005
Autor:
Lucas Santos Souza, P. Calyjur, Mariz Vainzof, Juliana Gurgel-Giannetti, Antonio Fernando Ribeiro, Mayana Zatz, Rita de Cássia M. Pavanello
Publikováno v:
Journal of Molecular Neuroscience. 71:2275-2280
Myotonia congenita is a genetic disease caused by mutations in the CLCN1 gene, which encodes for the major chloride skeletal channel ClC-1, involved in the normal repolarization of muscle action potentials and consequent relaxation of the muscle afte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18780cd7cfd866e1f4dfc5b81e52a457
https://doi.org/10.1007/s12031-020-01785-4
https://doi.org/10.1007/s12031-020-01785-4
Autor:
Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger
Publikováno v:
Annals of clinical and translational neurology. 9(6)
The long-term favorable safety profile of nusinersen provides an opportunity to consider a higher dose. We report on the relationships between nusinersen cerebrospinal fluid (CSF) exposure, biomarker levels, and clinical efficacy.The analyses used da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e6da626f90d7f37b47eff6eb548194
https://pubmed.ncbi.nlm.nih.gov/35567345
https://pubmed.ncbi.nlm.nih.gov/35567345