Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
de Oliveira BM, Bernardi FA, Baiochi JF, Neiva MB, Artifon M, Vergara AA, Martins AM, Grumach AS, Acosta AX, Husny ASE, de Freitas Rodrigues Ribeiro B, Ramos CF, Steiner CE, Kim CA, Christofolini DM, Yamada DB, Carvalho EDF, Ribeiro EM, de Arruda Bastos F, Serpa FS, Brandão FR, Adjuto GMAF, Carvalho I, Saute JAM, Junior JCL, Bueno LSM, da Silva LCS, Santos MLSF, Costa MCM, Giusti MMCG, Galera MF, Filho MEC, de Andrade MDFC, De Oliveira Cardoso MT, de Menezes Ferreira MM, Zeny M, Caldato MCF, Sorte NB, Musolino NRC, de Medeiros PFV, Zen PRG, Da Silva RTB, Maia RE, Fock R, Almeida RES, Valle SOR, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Lima VC, Paiva WJM, Schwartz IVD, Alves D, Félix TM; Raras Network Group. de Oliveira BM, et al. Among authors: saute jam. Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7. Orphanet J Rare Dis. 2024. PMID: 39478612 Free PMC article.
Estimated costs for Duchenne muscular dystrophy care in Brazil.
Schneider NB, Roos EC, Staub ALP, Bevilacqua IP, de Almeida AC, de Camargo Martins T, Ramos NB, Loze P, Saute JAM, Etges APBDS, Polanczyk CA. Schneider NB, et al. Among authors: saute jam. Orphanet J Rare Dis. 2023 Jun 22;18(1):159. doi: 10.1186/s13023-023-02767-6. Orphanet J Rare Dis. 2023. PMID: 37349725 Free PMC article.
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
Gaviraghi T, Cavalcanti EBU, Lorenzoni PJ, Cotta A, de Souza PVS, de Oliveira AD, de Moraes MT, Marques MVO, Donis KC, Winckler PB, Costa E Silva C, Pinto WBVR, Kay CSK, Ducci RD, Rodrigues PRVP, Fustes OJH, da Silva AMS, Zanoteli E, França MC Jr, Sobreira CFR, Oliveira ASB, Carvalho EHT, Scola RH, Carvalho AAS, Saute JAM. Gaviraghi T, et al. Among authors: saute jam. Clin Genet. 2024 Nov;106(5):644-649. doi: 10.1111/cge.14589. Epub 2024 Jul 17. Clin Genet. 2024. PMID: 39015008
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG, Moreno CAM, Artilheiro MDC, Fonseca ATQM, Gurgel Gianetti J, Barbosa AV, Donis KC, Saute JAM, Pessoa A, Van der Linden H Jr, Gonçalves ARA, Kulikowski LD, Kok F, Zanoteli E. Camelo CG, et al. Among authors: saute jam. Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15. Clin Genet. 2024. PMID: 38747280
Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
Araujo APQC, Saute JAM, Fortes CPDD, França MC Jr, Pereira JA, Albuquerque MAV, Carvalho AAS, Cavalcanti EBU, Covaleski APPM, Fagondes SC, Gurgel-Giannetti J, Gonçalves MVM, Martinez ARM, Coimbra Neto AR, Neves FR, Nucci A, Nucera APCDS, Pessoa ALS, Rebel MF, Santos FND, Scola RH, Sobreira CFDR. Araujo APQC, et al. Among authors: saute jam. Arq Neuropsiquiatr. 2023 Jan;81(1):81-94. doi: 10.1055/s-0043-1761466. Epub 2023 Mar 14. Arq Neuropsiquiatr. 2023. PMID: 36918011 Free PMC article. Review.
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Fussiger H, Pereira BLDS, Padilha JPD, Donis KC; Rare-Genomes Project Consortium; Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM. Fussiger H, et al. Among authors: saute jam. Clin Genet. 2023 May;103(5):580-584. doi: 10.1111/cge.14280. Epub 2023 Jan 15. Clin Genet. 2023. PMID: 36537231
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Saute JA, Souza CF, Poswar FO, Donis KC, Campos LG, Deyl AV, Burin MG, Vargas CR, Matte UD, Giugliani R, Saraiva-Pereira ML, Vedolin LM, Gregianin LJ, Jardim LB. Saute JA, et al. Arq Neuropsiquiatr. 2016 Dec;74(12):953-966. doi: 10.1590/0004-282X20160155. Arq Neuropsiquiatr. 2016. PMID: 27991992 Free article.
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Zanoteli E, Araujo APQC, Becker MM, Fortes CPDD, França MC Jr, Machado-Costa MC, Marques W Jr, Matsui C Jr, Mendonça RH, Nardes F, Oliveira ASB, Pessoa ALS, Saute JAM, Sgobbi P, Van der Linden H Jr, Gurgel-Giannetti J. Zanoteli E, et al. Among authors: saute jam. Arq Neuropsiquiatr. 2024 Jan;82(1):1-18. doi: 10.1055/s-0044-1779503. Epub 2024 Feb 5. Arq Neuropsiquiatr. 2024. PMID: 38316428 Free PMC article.
78 results