Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jonas A, Saute"'
Autor:
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte, Domingos Alves, RARAS Network group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laborat
Externí odkaz:
https://doaj.org/article/90e2669b4e254982a0ad0a8cb9c03645
Autor:
Marco Antonnio Rocha dos Santos, Samanta F. Brighente, Angela Massignan, Renata Barreto Tenório, Lorenzo Longo Makariewicz, Ana Lucila Moreira, Jonas Alex Saute
Publikováno v:
Neuromuscular disorders : NMD. 32(9)
Diagnosis of later-onset spinal muscular atrophy (SMA) can be challenging. This study aimed to evaluate the diagnostic properties of the detection of muscle fasciculations for SMA diagnosis in adolescents and adults with proximal muscle weakness. A c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd1d9adaeaeefd737273b8e620ba353b
https://pubmed.ncbi.nlm.nih.gov/35879189
https://pubmed.ncbi.nlm.nih.gov/35879189
Autor:
Têmis Maria, Félix, Bibiana Mello, de Oliveira, Milena, Artifon, Isabelle, Carvalho, Filipe Andrade, Bernardi, Ida V D, Schwartz, Jonas A, Saute, Victor E F, Ferraz, Angelina X, Acosta, Ney Boa, Sorte, Domingos, Alves, Marcos Guimarães, Zuchetti
Publikováno v:
Orphanet journal of rare diseases. 17(1)
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7e2d75bcbcf53a5e5fa4d5ebdf6de1
https://pubmed.ncbi.nlm.nih.gov/35209917
https://pubmed.ncbi.nlm.nih.gov/35209917
Autor:
Kyoko, Hoshino, Kathleen J, Sweadner, Toshitaka, Kawarai, Jonas Alex, Saute, Joel, Freitas, Joana, Damásio, Karina C, Donis, Kazue, Kimura, Hideki, Fukuda, Masaharu, Hayashi, Tetsuya, Higuchi, Yoshio, Ikeda, Laurie J, Ozelius, Ryuji, Kaji
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c8b1974d988fb22d2892dd0f77edc48b
https://pubmed.ncbi.nlm.nih.gov/33977143
https://pubmed.ncbi.nlm.nih.gov/33977143
Autor:
Annemieke Aartsma-Rus, Madhuri Hegde, Tawfeg Ben-Omran, Filippo Buccella, Alessandra Ferlini, Pia Gallano, R. Rodney Howell, France Leturcq, Ann S. Martin, Anna Potulska-Chromik, Jonas A. Saute, Wolfgang M. Schmidt, Thomas Sejersen, Sylvie Tuffery-Giraud, Zehra Oya Uyguner, Luci A. Witcomb, Shu Yau, Stanley F. Nelson
Publikováno v:
Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2019, 204, pp.305-313.e14. ⟨10.1016/j.jpeds.2018.10.043⟩
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Journal of Pediatrics, Elsevier, 2019, 204, pp.305-313.e14. ⟨10.1016/j.jpeds.2018.10.043⟩
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34789550f2a27b968df8244c69849ac5
http://hdl.handle.net/11392/2408102
http://hdl.handle.net/11392/2408102
Autor:
José Luiz, Pedroso, Marcondes C, França, Pedro, Braga-Neto, Anelyssa, D'Abreu, Maria Luiza, Saraiva-Pereira, Jonas A, Saute, Hélio A, Teive, Paulo, Caramelli, Laura Bannach, Jardim, Iscia, Lopes-Cendes, Orlando Graziani P, Barsottini
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 28(9)
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55589777b9c089ff9ec46c64fc1cdd89
https://pubmed.ncbi.nlm.nih.gov/23775899
https://pubmed.ncbi.nlm.nih.gov/23775899
Autor:
Jardim, Laura, JONAS ALEX SAUTE, Donis, Karina, Gheno, Tailise, Furtado, Gabriel, Fontanari, Anna, Emmel, Vanessa, Pedroso, Jose, Barsottini, Orlando, Godeiro-Junior, Clecio, Linden, Helio, Pereira, Eliana, Castilhos, Raphael, Alonso, Isabel, Sequeiros, Jorge, Cornejo-Olivas, Mario, Mazetti-Soler, Pilar, Torman, Vanessa, Saraiva-Pereira, Maria-Luiza
Publikováno v:
Publons
Web of Science
ResearcherID
Web of Science
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::389f9e6c2a25f887e0a70f194b74ac5f
https://publons.com/publon/23941551/
https://publons.com/publon/23941551/