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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

73 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: saute jam. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Oliveira Netto AB, Brusius-Facchin AC, Lemos JF, Pasetto FB, Brasil CS, Trapp FB, Saute JAM, Donis KC, Becker MM, Wiest P, Coutinho VLS, Castro S, Ferreira J, Silveira C, Bittar MFR, Wang C, Lana JM, França Junior MC, Giugliani R. Oliveira Netto AB, et al. Among authors: saute jam. Genet Mol Biol. 2023 Dec 11;46(3 Suppl 1):e20230126. doi: 10.1590/1678-4685-GMB-2023-0126. eCollection 2023. Genet Mol Biol. 2023. PMID: 38091267 Free PMC article.
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.
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.
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 May 15. doi: 10.1111/cge.14538. Online ahead of print. Clin Genet. 2024. PMID: 38747280
Evoked potentials as biomarkers of hereditary spastic paraplegias: A case-control study.
Brighente SF, Vicuña P, Rodrigues Louzada AL, Giordani GM, Fussiger H, Dos Santos MAR, Cubillos-Arcila DM, Winckler PB, Saute JAM. Brighente SF, et al. Among authors: saute jam. PLoS One. 2021 Nov 30;16(11):e0259397. doi: 10.1371/journal.pone.0259397. eCollection 2021. PLoS One. 2021. PMID: 34847171 Free PMC article.
Progression of Functional Gait in Hereditary Spastic Paraplegias.
Cubillos-Arcila DM, Machado GD, Sehnem L, Burguêz D, Zanardi APJ, Martins VF, Peyré-Tartaruga LA, Saute JAM. Cubillos-Arcila DM, et al. Among authors: saute jam. Cerebellum. 2022 Jun;21(3):350-357. doi: 10.1007/s12311-021-01302-2. Epub 2021 Jul 9. Cerebellum. 2022. PMID: 34244902
73 results