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Brain Structural Signature of RFC1-Related Disorder.
Matos PCAAP, Rezende TJR, Schmitt GS, Bonadia LC, Reis F, Martinez ARM, de Lima FD, Bueno MGA, Tomaselli PJ, Cendes F, Pedroso JL, Barsottini OGP, Marques W Jr, França M Jr. Matos PCAAP, et al. Among authors: tomaselli pj. Mov Disord. 2021 Nov;36(11):2634-2641. doi: 10.1002/mds.28711. Epub 2021 Jul 9. Mov Disord. 2021. PMID: 34241918
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, Barsottini O, Cortese A, Danzi MC, França MC Jr, Brais B, Zuchner S, Houlden H, Raskin S, Marques W, Teive HA. Novis LE, et al. Among authors: tomaselli pj. Neurol Genet. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37646005 Free PMC article.
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
Gama MTD, Braga-Neto P, Rangel DM, Godeiro C Jr, Alencar R, Embiruçu EK, Cornejo-Olivas M, Sarapura-Castro E, Saffie Awad P, Muñoz Chesta D, Kauffman M, Rodriguez-Quiroga S, Jardim LB, da Graça FF, França MC Jr, Tomaselli PJ, Marques W Jr, Teive HAG, Barsottini OGP, Pedroso JL, Synofzik M. Gama MTD, et al. Among authors: tomaselli pj. Mov Disord. 2022 Aug;37(8):1773-1774. doi: 10.1002/mds.29046. Epub 2022 May 4. Mov Disord. 2022. PMID: 35507441 No abstract available.
Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis.
Borghetti VS, Cintra VP, Ramos JO, Marques VD, Onofre PT, Santana VAS, Bezerra LFP, Tomaselli PJ, Santos ACJD, Sobreira CFDR, Marques W Jr. Borghetti VS, et al. Among authors: tomaselli pj. Arq Neuropsiquiatr. 2022 Jul;80(7):676-680. doi: 10.1055/s-0042-1755224. Epub 2022 Sep 29. Arq Neuropsiquiatr. 2022. PMID: 36254439 Free PMC article.
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB, Tomaselli PJ, Hallak J, Mattiello-Sverzut AC, Covaleski APPM, Sobreira CFDR, de Paula Gouvêa S, Marques W Jr. Figueiredo FB, et al. Among authors: tomaselli pj. J Peripher Nerv Syst. 2024 Mar;29(1):97-106. doi: 10.1111/jns.12617. Epub 2024 Feb 20. J Peripher Nerv Syst. 2024. PMID: 38375759
High glucose level as a modifier factor in CMT1A patients.
Secchin JB, Leal RCC, Lourenço CM, Marques VD, Nogueira PTL, Santos ACJ, Tomaselli PJ, Marques W Jr. Secchin JB, et al. Among authors: tomaselli pj. J Peripher Nerv Syst. 2020 Jun;25(2):132-137. doi: 10.1111/jns.12379. Epub 2020 May 12. J Peripher Nerv Syst. 2020. PMID: 32347995
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E. Mendonça RH, et al. Among authors: tomaselli pj. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
44 results