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Items: 1 to 50 of 143

1.

Successful immune tolerance in a young female with inhibitor and severe haemophilia A due to a complex genetic rearrangement.

Zuccherato LW, Roberti MRF, Jardim LL, Rezende SM.

Haemophilia. 2018 Jul 13. doi: 10.1111/hae.13560. [Epub ahead of print] No abstract available.

PMID:
30004160
2.

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.

Fussiger H, Saraiva-Pereira ML, Leistner-Segal S, Jardim LB.

Cerebellum. 2018 Jun 25. doi: 10.1007/s12311-018-0958-x. [Epub ahead of print]

PMID:
29938355
3.

Huntington's disease-like disorders in Latin America and the Caribbean.

Walker RH, Gatto EM, Bustamante ML, Bernal-Pacheco O, Cardoso F, Castilhos RM, Chana-Cuevas P, Cornejo-Olivas M, Estrada-Bellmann I, Jardim LB, López-Castellanos R, López-Contreras R, Maia DP, Mazzetti P, Miranda M, Rodríguez-Violante M, Teive H, Tumas V.

Parkinsonism Relat Disord. 2018 May 21. pii: S1353-8020(18)30253-0. doi: 10.1016/j.parkreldis.2018.05.021. [Epub ahead of print] Review.

PMID:
29853295
4.

Population-specific genetic modification of Huntington's disease in Venezuela.

Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM.

PLoS Genet. 2018 May 11;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May.

5.

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
6.

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.

Monte TL, Reckziegel EDR, Augustin MC, Locks-Coelho LD, Santos ASP, Furtado GV, de Mattos EP, Pedroso JL, Barsottini OP, Vargas FR, Saraiva-Pereira ML, Camey SA, Leotti VB, Jardim LB; Rede Neurogenética.

Orphanet J Rare Dis. 2018 Jan 25;13(1):20. doi: 10.1186/s13023-017-0725-y.

7.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

PMID:
29356829
8.

Impact of crack cocaine use on the occurrence of oral lesions and micronuclei.

Antoniazzi RP, Lago FB, Jardim LC, Sagrillo MR, Ferrazzo KL, Feldens CA.

Int J Oral Maxillofac Surg. 2018 Jul;47(7):888-895. doi: 10.1016/j.ijom.2017.12.005. Epub 2018 Jan 12.

PMID:
29336931
9.

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
10.

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
11.

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.

12.

Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.

Bampi GB, Bisso-Machado R, Hünemeier T, Gheno TC, Furtado GV, Veliz-Otani D, Cornejo-Olivas M, Mazzeti P, Bortolini MC, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica.

Neuromolecular Med. 2017 Dec;19(4):501-509. doi: 10.1007/s12017-017-8464-8. Epub 2017 Sep 13.

PMID:
28905220
13.

Immune status of patients with haemophilia A before exposure to factor VIII: first results from the HEMFIL study.

Jardim LL, Chaves DG, Silveira-Cassette ACO, Simões E Silva AC, Santana MP, Cerqueira MH, Prezotti A, Lorenzato C, Franco V, van der Bom JG, Rezende SM.

Br J Haematol. 2017 Sep;178(6):971-978. doi: 10.1111/bjh.14799. Epub 2017 Aug 23.

PMID:
28836262
14.

Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression.

Marchetti DP, Donida B, Jacques CE, Deon M, Hauschild TC, Koehler-Santos P, de Moura Coelho D, Coitinho AS, Jardim LB, Vargas CR.

J Cell Biochem. 2018 Jan;119(1):1223-1233. doi: 10.1002/jcb.26295. Epub 2017 Aug 23.

PMID:
28722826
15.

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.

16.

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors.

Monte TL, Pereira FS, Reckziegel EDR, Augustin MC, Locks-Coelho LD, Santos ASP, Pedroso JL, Barsottini O, Vargas FR, Saraiva-Pereira ML, Jardim LB; Rede Neurogenética.

Parkinsonism Relat Disord. 2017 Sep;42:54-60. doi: 10.1016/j.parkreldis.2017.06.010. Epub 2017 Jun 19.

PMID:
28648514
17.

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
18.

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
19.

NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.

Monte TL, Reckziegel ER, Augustin MC, Silva ASP, Locks-Coelho LD, Barsottini O, Pedroso JL, Vargas FR, Saraiva-Pereira ML, Leotti VB, Jardim LB; Rede Neurogenética.

Cerebellum. 2017 Aug;16(4):852-858. doi: 10.1007/s12311-017-0855-8.

PMID:
28456900
20.

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
21.

Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.

Braga-Neto P, Pedroso JL, Furtado GV, Gheno TC, Saraiva-Pereira ML, Jardim LB, Barsottini OGP; Rede Neurogenetica.

Cerebellum. 2017 Aug;16(4):812-816. doi: 10.1007/s12311-017-0862-9.

PMID:
28432641
22.

Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch.

Kuiper EF, de Mattos EP, Jardim LB, Kampinga HH, Bergink S.

Front Neurosci. 2017 Mar 23;11:145. doi: 10.3389/fnins.2017.00145. eCollection 2017. Review.

23.

Multiprofessional Treatment of High Blood Pressure in Very Elderly Patients.

Jardim LM, Jardim TV, Souza WK, Pimenta CD, Sousa AL, Jardim PC.

Arq Bras Cardiol. 2017 Jan;108(1):53-59. doi: 10.5935/abc.20160196. Portuguese, English.

24.

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.

25.

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.

26.

Evaluation of screening for Chlamydia trachomatis among young women in primary health care services in Manaus, Amazonas State, Brazil.

Neves D, Sabidó M, Bôtto-Menezes C, Benzaken NS, Jardim L, Ferreira C, Leturiondo A, Santos CG, Benzaken AS.

Cad Saude Publica. 2016 Oct 20;32(10):e00101015. doi: 10.1590/0102-311X00101015.

27.

Adaptive Immune Response Impairs the Efficacy of Autologous Transplantation of Engineered Stem Cells in Dystrophic Dogs.

Sitzia C, Farini A, Jardim L, Razini P, Belicchi M, Cassinelli L, Villa C, Erratico S, Parolini D, Bella P, da Silva Bizario JC, Garcia L, Dias-Baruffi M, Meregalli M, Torrente Y.

Mol Ther. 2016 Nov;24(11):1949-1964. doi: 10.1038/mt.2016.163. Epub 2016 Aug 10.

28.

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
29.

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.

30.

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
31.

Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.

Pedroso JL, Braga-Neto P, Escorcio-Bezerra ML, Abrahão A, de Albuquerque MV, Filho FM, de Souza PV, de Rezende Pinto WB, Borges FR Jr, Saraiva-Pereira ML, Jardim LB, Barsottini OG.

Cerebellum. 2017 Feb;16(1):34-39. doi: 10.1007/s12311-016-0761-5.

PMID:
26825292
32.

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
33.

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
34.

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.

Martinez AR, Moro A, Abrahao A, Faber I, Borges CR, Rezende TJ, Martins CR Jr, Moscovich M, Munhoz RP, Segal SL, Arruda WO, Saraiva-Pereira ML, Karuta S, Pedroso JL, D'Abreu A, Jardim LB, Lopes-Cendes Í, Barsottini OG, Teive HA, França MC Jr.

Cerebellum. 2017 Feb;16(1):253-256. doi: 10.1007/s12311-015-0755-8.

PMID:
26754264
35.

Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment.

Bezerra ML, Pedroso JL, Braga-Neto P, Abrahao A, de Albuquerque MV, Borges FR Jr, Saraiva-Pereira ML, Jardim LB, de Oliveira Braga NI, Manzano GM, Barsottini OG.

Cerebellum. 2016 Dec;15(6):767-773.

PMID:
26708559
36.

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
37.

The natural history of cardiovascular risk factors in health professionals: 20-year follow-up.

Jardim TV, Sousa AL, Povoa TI, Barroso WK, Chinem B, Jardim L, Bernardes R, Coca A, Jardim PC.

BMC Public Health. 2015 Nov 11;15:1111. doi: 10.1186/s12889-015-2477-8.

38.

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
39.

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
40.

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
41.

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.

Pedroso JL, de Souza PV, Pinto WB, Braga-Neto P, Albuquerque MV, Saraiva-Pereira ML, Jardim LB, Barsottini OG.

Parkinsonism Relat Disord. 2015 Oct;21(10):1243-6. doi: 10.1016/j.parkreldis.2015.07.015. Epub 2015 Jul 22.

PMID:
26231471
42.

Genetic aspects of Huntington's disease in Latin America. A systematic review.

Castilhos RM, Augustin MC, Santos JA, Perandones C, Saraiva-Pereira ML, Jardim LB; Rede Neurogenética.

Clin Genet. 2016 Mar;89(3):295-303. doi: 10.1111/cge.12641. Epub 2015 Aug 13. Review.

PMID:
26178794
43.

Is the imbalance between pro-angiogenic and anti-angiogenic factors associated with preeclampsia?

Jardim LL, Rios DR, Perucci LO, de Sousa LP, Gomes KB, Dusse LM.

Clin Chim Acta. 2015 Jul 20;447:34-8. doi: 10.1016/j.cca.2015.05.004. Epub 2015 May 13. Review.

PMID:
25982781
44.

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
45.

Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.

Habekost CT, Pereira FS, Vargas CR, Coelho DM, Torrez V, Oses JP, Portela LV, Schestatsky P, Felix VT, Matte U, Torman VL, Jardim LB.

Metab Brain Dis. 2015 Oct;30(5):1279-84. doi: 10.1007/s11011-015-9672-2. Epub 2015 Apr 30.

PMID:
25920484
46.

ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.

Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H Jr, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica.

Cerebellum. 2015 Dec;14(6):728-30. doi: 10.1007/s12311-015-0666-8. No abstract available.

PMID:
25869926
47.

The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.

Rabelo FY, Jardim LL, Landau MB, Gadelha T, Corrêa MF, Pereira IF, Rezende SM.

Haemophilia. 2015 Sep;21(5):670-80. doi: 10.1111/hae.12645. Epub 2015 Mar 31.

PMID:
25828579
48.

Protective effect of antioxidants on DNA damage in leukocytes from X-linked adrenoleukodystrophy patients.

Marchetti DP, Donida B, da Rosa HT, Manini PR, Moura DJ, Saffi J, Deon M, Mescka CP, Coelho DM, Jardim LB, Vargas CR.

Int J Dev Neurosci. 2015 Jun;43:8-15. doi: 10.1016/j.ijdevneu.2015.03.004. Epub 2015 Mar 10.

PMID:
25765338
49.

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

Pedroso JL, de Freitas ME, Albuquerque MV, Saraiva-Pereira ML, Jardim LB, Barsottini OG.

J Neurol Sci. 2014 Dec 15;347(1-2):356-8. doi: 10.1016/j.jns.2014.09.050. Epub 2014 Oct 8.

PMID:
25456461
50.

Polymorphisms in endothelial nitric oxide synthase gene in early and late severe preeclampsia.

Alpoim PN, Gomes KB, Pinheiro Mde B, Godoi LC, Jardim LL, Muniz LG, Sandrim VC, Fernandes AP, Dusse LM.

Nitric Oxide. 2014 Nov 15;42:19-23. doi: 10.1016/j.niox.2014.07.006. Epub 2014 Aug 11.

PMID:
25106888

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