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Items: 44

1.

Planning Future Clinical Trials for Machado-Joseph Disease.

Saute JAM, Jardim LB.

Adv Exp Med Biol. 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. Review.

PMID:
29427112
2.

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D, Polese-Bonatto M, Scudeiro LAJ, Björkhem I, Schöls L, Jardim LB, Matte U, Saraiva-Pereira ML, Siebert M, Saute JAM.

J Neurol Sci. 2017 Dec 15;383:18-25. doi: 10.1016/j.jns.2017.10.010. Epub 2017 Oct 10.

PMID:
29246610
3.

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.

Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

PMID:
29126212
4.

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

de Assis AM, Saute JAM, Longoni A, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno TC, Russo A, Monte TL, Castilhos RM, Schumacher-Schuh A, D'Avila R, Donis KC, de Mello Rieder CR, Souza DO, Camey S, Leotti VB, Jardim LB, Portela LV.

Front Neurol. 2017 Sep 20;8:485. doi: 10.3389/fneur.2017.00485. eCollection 2017.

5.

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.

Araujo APQC, Carvalho AAS, Cavalcanti EBU, Saute JAM, Carvalho E, França MC Junior, Martinez ARM, Navarro MMM, Nucci A, Resende MBD, Gonçalves MVM, Gurgel-Giannetti J, Scola RH, Sobreira CFDR, Reed UC, Zanoteli E.

Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. doi: 10.1590/0004-282X20170112.

PMID:
28813090
6.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Burguêz D, Oliveira CM, Rockenbach MABC, Fussiger H, Vedolin LM, Winckler PB, Maestri MK, Finkelsztejn A, Santorelli FM, Jardim LB, Saute JAM.

Arq Neuropsiquiatr. 2017 Jun;75(6):339-344. doi: 10.1590/0004-282X20170044.

7.

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.

Gheno TC, Furtado GV, Saute JAM, Donis KC, Fontanari AMV, Emmel VE, Pedroso JL, Barsottini O, Godeiro-Junior C, van der Linden H, Ternes Pereira E, Cintra VP, Marques W Jr, de Castilhos RM, Alonso I, Sequeiros J, Cornejo-Olivas M, Mazzetti P, Leotti VB, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica.

Eur J Neurol. 2017 Jul;24(7):892-e36. doi: 10.1111/ene.13281. Epub 2017 May 31.

PMID:
28560845
8.

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

Fussiger H, Jardim LB, Saute JA.

Neurology. 2017 May 2;88(18):1776. doi: 10.1212/WNL.0000000000003898. No abstract available.

PMID:
28461578
9.

A Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Mimics on Brain Magnetic Resonance Imaging in Myotonic Dystrophy Type I.

Konzen D, Moura de Souza CF, Saute JAM.

JAMA Neurol. 2017 Jul 1;74(7):866-867. doi: 10.1001/jamaneurol.2017.0399. No abstract available.

PMID:
28459935
10.

Cancer in Machado-Joseph disease patients-low frequency as a cause of death.

Souza GN, Kersting N, Gonçalves TA, Pacheco DLO, Saraiva-Pereira ML, Camey SA, Saute JAM, Jardim LB.

Cancer Genet. 2017 Apr;212-213:19-23. doi: 10.1016/j.cancergen.2017.03.008. Epub 2017 Mar 30.

PMID:
28449807
11.

Genetic profile of Brazilian patients with dystrophinopathies.

de Almeida PAD, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MCS, Bueno LSM, Saute JAM, Pinto Vairo F, Matte US, Siebert M, Cossio SL, Macedo GS, Winckler PB, Becker MM, Magalhães LVB, Gonçalves MVM, Marrone CD, Nucci A, França MC Jr.

Clin Genet. 2017 Aug;92(2):199-203. doi: 10.1111/cge.12975. Epub 2017 Feb 22.

PMID:
28116794
12.

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.

Arq Neuropsiquiatr. 2016 Dec;74(12):953-966. doi: 10.1590/0004-282X20160155.

13.

Challenges in quantifying ataxia in core and comorbid early onset ataxias.

Saute JA, Jardim LB.

Dev Med Child Neurol. 2017 Apr;59(4):350-351. doi: 10.1111/dmcn.13305. Epub 2016 Nov 1. No abstract available.

14.

Riluzole in patients with hereditary cerebellar ataxia.

Saute JAM, Jardim LB.

Lancet Neurol. 2016 Jul;15(8):788-789. doi: 10.1016/S1474-4422(16)00128-9. No abstract available.

PMID:
27302350
15.

MR Imaging in Spinocerebellar Ataxias: A Systematic Review.

Klaes A, Reckziegel E, Franca MC Jr, Rezende TJ, Vedolin LM, Jardim LB, Saute JA.

AJNR Am J Neuroradiol. 2016 Aug;37(8):1405-12. doi: 10.3174/ajnr.A4760. Epub 2016 May 12.

16.

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

Poswar Fde O, da Fonseca RM, de Albuquerque LC, Zhou Q, Jardim LB, Monte TL, Aksentijevich I, Saute JA.

J Neurol. 2016 Apr;263(4):818-20. doi: 10.1007/s00415-016-8070-y. Epub 2016 Feb 25. No abstract available.

PMID:
26914925
17.

Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr.

Eur J Neurol. 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839.

PMID:
26806216
18.

Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.

Donis KC, Saute JA, Krum-Santos AC, Furtado GV, Mattos EP, Saraiva-Pereira ML, Torman VL, Jardim LB.

Neurogenetics. 2016 Apr;17(2):107-13. doi: 10.1007/s10048-016-0473-5. Epub 2016 Jan 16.

PMID:
26780339
19.

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

Souza GN, Kersting N, Krum-Santos AC, Santos AS, Furtado GV, Pacheco D, Gonçalves TA, Saute JA, Schuler-Faccini L, Mattos EP, Saraiva-Pereira ML, Jardim LB.

Clin Genet. 2016 Aug;90(2):134-40. doi: 10.1111/cge.12719. Epub 2016 Feb 3.

PMID:
26693702
20.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V.

Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.

PMID:
26528954
21.

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.

da Silva Carvalho G, Saute JA, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno T, Russo A, Monte TL, Schumacher-Schuh A, D'Avila R, Donis KC, Castilhos RM, Souza DO, Saraiva-Pereira ML, Torman VL, Camey S, Portela LV, Jardim LB.

Cerebellum. 2016 Aug;15(4):518-25. doi: 10.1007/s12311-015-0719-z.

PMID:
26395908
22.

Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial.

Saute JA, Rieder CR, Castilhos RM, Monte TL, Schumacher-Schuh AF, Donis KC, D'Ávila R, Souza GN, Russo AD, Furtado GV, Gheno TC, Souza DO, Saraiva-Pereira ML, Portela LV, Camey S, Torman VB, Jardim LB.

J Neurol Sci. 2015 Nov 15;358(1-2):72-6. doi: 10.1016/j.jns.2015.08.019. Epub 2015 Aug 14.

PMID:
26297649
23.

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.

J Neurol Sci. 2015 Jul 15;354(1-2):118-21. doi: 10.1016/j.jns.2015.04.040. Epub 2015 May 5. Review. No abstract available.

PMID:
25972113
24.

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.

J Inherit Metab Dis. 2015 Mar;38(2):363-4. doi: 10.1007/s10545-014-9745-0. Epub 2014 Aug 12. No abstract available.

PMID:
25112387
25.

A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.

Saute JA, de Castilhos RM, Monte TL, Schumacher-Schuh AF, Donis KC, D'Ávila R, Souza GN, Russo AD, Furtado GV, Gheno TC, de Souza DO, Portela LV, Saraiva-Pereira ML, Camey SA, Torman VB, de Mello Rieder CR, Jardim LB.

Mov Disord. 2014 Apr;29(4):568-73. doi: 10.1002/mds.25803. Epub 2014 Jan 7.

PMID:
24399647
26.

Huntington disease and Huntington disease-like in a case series from Brazil.

Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C Jr, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB.

Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17.

PMID:
24102565
27.

SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil.

França MC Jr, Dogini DB, D'Abreu A, Teive HA, Munhoz RP, Raskin S, Moro A, Melo CC, Gomes AP, Saute JA, Jardim LB, Lopes-Cendes I.

Clin Genet. 2014 Aug;86(2):194-6. doi: 10.1111/cge.12252. Epub 2013 Sep 5. No abstract available.

PMID:
24033003
28.

Nonmotor and extracerebellar features in Machado-Joseph disease: a review.

Pedroso JL, França MC Jr, Braga-Neto P, D'Abreu A, Saraiva-Pereira ML, Saute JA, Teive HA, Caramelli P, Jardim LB, Lopes-Cendes I, Barsottini OG.

Mov Disord. 2013 Aug;28(9):1200-8. doi: 10.1002/mds.25513. Epub 2013 Jun 17. Review.

PMID:
23775899
29.

Body mass index is inversely correlated with the expanded CAG repeat length in SCA3/MJD patients.

Saute JA, Silva AC, Souza GN, Russo AD, Donis KC, Vedolin L, Saraiva-Pereira ML, Portela LV, Jardim LB.

Cerebellum. 2012 Sep;11(3):771-4. doi: 10.1007/s12311-011-0326-6. Erratum in: Cerebellum. 2012 Sep;11(3):775-6.

PMID:
22090366
30.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group.

Cerebellum. 2012 Jun;11(2):488-504. doi: 10.1007/s12311-011-0316-8. Review.

PMID:
21964941
31.

Effects of 3 weeks GMP oral administration on glutamatergic parameters in mice neocortex.

Ganzella M, Moreira JD, Almeida RF, Böhmer AE, Saute JA, Holmseth S, Souza DO.

Purinergic Signal. 2012 Mar;8(1):49-58. doi: 10.1007/s11302-011-9258-3. Epub 2011 Sep 1.

32.

Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3.

Saute JA, da Silva AC, Muller AP, Hansel G, de Mello AS, Maeda F, Vedolin L, Saraiva-Pereira ML, Souza DO, Arpa J, Torres-Aleman I, Portela LV, Jardim LB.

Mov Disord. 2011 Mar;26(4):731-5. doi: 10.1002/mds.23428. Epub 2010 Nov 10.

PMID:
21506152
33.

Subcutaneous insulin-like growth factor-1 treatment in spinocerebellar ataxias: an open label clinical trial.

Arpa J, Sanz-Gallego I, Medina-Báez J, Portela LV, Jardim LB, Torres-Aleman I, Saute JA.

Mov Disord. 2011 Feb 1;26(2):358-9. doi: 10.1002/mds.23423. Epub 2010 Oct 19. No abstract available.

PMID:
20960476
34.

The role of lithium in ALS remains unknown.

Saute JA, Valler L, Schestatsky P.

Amyotroph Lateral Scler. 2010 Dec;11(6):574. doi: 10.3109/17482968.2010.509866. Epub 2010 Aug 25. No abstract available.

PMID:
20735282
35.

Depressive mood is associated with ataxic and non-ataxic neurological dysfunction in SCA3 patients.

Saute JA, da Silva AC, Donis KC, Vedolin L, Saraiva-Pereira ML, Jardim LB.

Cerebellum. 2010 Dec;9(4):603-5; author reply 606-7. doi: 10.1007/s12311-010-0205-6. No abstract available.

PMID:
20734176
36.

Progression rate of neurological deficits in a 10-year cohort of SCA3 patients.

Jardim LB, Hauser L, Kieling C, Saute JA, Xavier R, Rieder CR, Monte TL, Camey S, Torman VB.

Cerebellum. 2010 Sep;9(3):419-28. doi: 10.1007/s12311-010-0179-4.

PMID:
20467850
37.

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial.

Silva RC, Saute JA, Silva AC, Coutinho AC, Saraiva-Pereira ML, Jardim LB.

Braz J Med Biol Res. 2010 Jun;43(6):537-42. Epub 2010 Apr 16.

38.

Effects of depressive-like behavior of rats on brain glutamate uptake.

Almeida RF, Thomazi AP, Godinho GF, Saute JA, Wofchuk ST, Souza DO, Ganzella M.

Neurochem Res. 2010 Aug;35(8):1164-71. doi: 10.1007/s11064-010-0169-4. Epub 2010 Apr 20.

PMID:
20405205
39.

A prospective study of SCA3 gait ataxia described through a Markovian method.

Camey S, Jardim LB, Kieling C, Saute JA, Vigo A.

Neuroepidemiology. 2010;34(3):163-70. doi: 10.1159/000279333. Epub 2010 Feb 2.

PMID:
20130417
40.

Evidence that folic acid deficiency is a major determinant of hyperhomocysteinemia in Parkinson's disease.

dos Santos EF, Busanello EN, Miglioranza A, Zanatta A, Barchak AG, Vargas CR, Saute J, Rosa C, Carrion MJ, Camargo D, Dalbem A, da Costa JC, de Sousa Miguel SR, de Mello Rieder CR, Wajner M.

Metab Brain Dis. 2009 Jun;24(2):257-69. doi: 10.1007/s11011-009-9139-4. Epub 2009 Mar 18.

PMID:
19294496
41.

Interleukin-6 serum levels in patients with Parkinson's disease.

Hofmann KW, Schuh AF, Saute J, Townsend R, Fricke D, Leke R, Souza DO, Portela LV, Chaves ML, Rieder CR.

Neurochem Res. 2009 Aug;34(8):1401-4. doi: 10.1007/s11064-009-9921-z. Epub 2009 Feb 13.

PMID:
19214748
42.

A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3).

Kieling C, Rieder CR, Silva AC, Saute JA, Cecchin CR, Monte TL, Jardim LB.

Eur J Neurol. 2008 Apr;15(4):371-6. doi: 10.1111/j.1468-1331.2008.02078.x. Epub 2008 Feb 26.

PMID:
18312406
43.

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings.

Trott A, Jardim LB, Ludwig HT, Saute JA, Artigalás O, Kieling C, Wanderley HY, Rieder CR, Monte TL, Socal M, Alonso I, Ferro A, Carvalho T, do Céu Moreira M, Mendonça P, Ferreirinha F, Silveira I, Sequeiros J, Giugliani R, Saraiva-Pereira ML.

Clin Genet. 2006 Aug;70(2):173-6. No abstract available.

PMID:
16879203
44.

Amnesic effect of GMP depends on its conversion to guanosine.

Saute JA, da Silveira LE, Soares FA, Martini LH, Souza DO, Ganzella M.

Neurobiol Learn Mem. 2006 May;85(3):206-12. Epub 2005 Dec 1.

PMID:
16325434

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