Saute JA - Search Results

1

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

Félix TM, de Oliveira BM, Artifon M, Carvalho I, Bernardi FA, Schwartz IVD, Saute JA, Ferraz VEF, Acosta AX, Sorte NB, Alves D; RARAS Network group. Félix TM, et al. Among authors: saute ja. Orphanet J Rare Dis. 2022 Feb 24;17(1):84. doi: 10.1186/s13023-022-02254-4. Orphanet J Rare Dis. 2022. PMID: 35209917 Free PMC article.

2

Look carefully to the heels! A potentially treatable cause of spastic paraplegia.

Saute JA, Giugliani R, Merkens LS, Chiang JP, DeBarber AE, de Souza CF. Saute JA, et al. J Inherit Metab Dis. 2015 Mar;38(2):363-4. doi: 10.1007/s10545-014-9745-0. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112387 No abstract available.

3

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.

Giugliani R, Vairo F, Kubaski F, Poswar F, Riegel M, Baldo G, Saute JA. Giugliani R, et al. Among authors: saute ja. Lancet Child Adolesc Health. 2018 Jan;2(1):56-68. doi: 10.1016/S2352-4642(17)30087-1. Epub 2017 Oct 24. Lancet Child Adolesc Health. 2018. PMID: 30169196 Review.

4

Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy.

Dos Santos MAR, Brighente SF, Massignan A, Tenório RB, Makariewicz LL, Moreira AL, Saute JA. Dos Santos MAR, et al. Among authors: saute ja. Neuromuscul Disord. 2022 Sep;32(9):763-768. doi: 10.1016/j.nmd.2022.07.395. Epub 2022 Jul 14. Neuromuscul Disord. 2022. PMID: 35879189

5

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Among authors: saute ja. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.

6

Infantile spinocerebellar ataxia type 7: Case report and a review of the literature.

Donis KC, Mattos EP, Silva AA, Furtado GV, Saraiva-Pereira ML, Jardim LB, Saute JA. Donis KC, et al. Among authors: saute ja. J Neurol Sci. 2015 Jul 15;354(1-2):118-21. doi: 10.1016/j.jns.2015.04.040. Epub 2015 May 5. J Neurol Sci. 2015. PMID: 25972113 Review. No abstract available.

7

Letter re: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Fussiger H, Jardim LB, Saute JA. Fussiger H, et al. Among authors: saute ja. Neurology. 2017 May 2;88(18):1776. doi: 10.1212/WNL.0000000000003898. Neurology. 2017. PMID: 28461578 No abstract available.

8

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.

Hoshino K, Sweadner KJ, Kawarai T, Saute JA, Freitas J, Damásio J, Donis KC, Kimura K, Fukuda H, Hayashi M, Higuchi T, Ikeda Y, Ozelius LJ, Kaji R. Hoshino K, et al. Among authors: saute ja. Neurol Genet. 2021 Mar 15;7(2):e562. doi: 10.1212/NXG.0000000000000562. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977143 Free PMC article. No abstract available.

9

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.

Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF. Aartsma-Rus A, et al. Among authors: saute ja. J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. J Pediatr. 2019. PMID: 30579468 Free article. No abstract available.

10

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

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