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Items: 1 to 50 of 127

1.

Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.

Peluzzo TM, Bonadia LC, Donatti A, Molck MC, Jardim LB, Marques W Jr, Lopes-Cendes IT, França MC Jr.

Cerebellum. 2019 Jun 26. doi: 10.1007/s12311-019-01055-z. [Epub ahead of print]

PMID:
31243663
2.

New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.

Gouvea SP, Tomaselli PJ, Barretto LS, Perina KCB, Nyshyama FS, Nicolau N Jr, Lourenço CM, Marques W Jr.

J Peripher Nerv Syst. 2019 Jun;24(2):207-212. doi: 10.1111/jns.12327.

PMID:
31119804
3.

Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease.

Baptista CR, Nascimento-Elias AH, Garcia B, Testa A, Domingues PC, Martinez EZ, Marques W Jr, Mattiello-Sverzut AC.

Physiother Theory Pract. 2019 May 3:1-8. doi: 10.1080/09593985.2019.1603257. [Epub ahead of print]

PMID:
31046526
4.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

PMID:
31028356
5.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920.

PMID:
30926972
6.

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy.

Pinto MV, Barreira AA, Bulle AS, Freitas MRG, França MC Jr, Gondim FAA, Marrone CD, Marques W Jr, Nascimento OJM, Rotta FT, Pupe C, Waddington-Cruz M.

Arq Neuropsiquiatr. 2018 Sep;76(9):609-621. doi: 10.1590/0004-282X20180094.

7.

SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response.

Faber I, Martinez ARM, Martins CR Jr, Maia ML, Souza JP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Ramos CD, Lopes-Cendes Í, Friedman JH, Amorim BJ, França MC Jr.

Mov Disord. 2018 Oct;33(10):1650-1656. doi: 10.1002/mds.27491. Epub 2018 Oct 10.

PMID:
30306626
8.

A toolkit for rapid CRISPR-SpCas9 assisted construction of hexose-transport-deficient Saccharomyces cerevisiae strains.

Wijsman M, Swiat MA, Marques WL, Hettinga JK, van den Broek M, Torre Cortés P, Mans R, Pronk JT, Daran JM, Daran-Lapujade P.

FEMS Yeast Res. 2019 Jan 1;19(1). doi: 10.1093/femsyr/foy107.

9.

Laboratory evolution and physiological analysis of Saccharomyces cerevisiae strains dependent on sucrose uptake via the Phaseolus vulgaris Suf1 transporter.

Marques WL, van der Woude LN, Luttik MAH, van den Broek M, Nijenhuis JM, Pronk JT, van Maris AJA, Mans R, Gombert AK.

Yeast. 2018 Dec;35(12):639-652. doi: 10.1002/yea.3357. Epub 2018 Oct 15.

PMID:
30221387
10.

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Faber I, Martinez ARM, de Rezende TJR, Martins CR Jr, Martins MP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Lopes-Cendes Í, França MC Jr.

Neuroimage Clin. 2018 Jun 9;19:848-857. doi: 10.1016/j.nicl.2018.05.031. eCollection 2018.

11.

Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients.

Tavares de Andrade HM, Cintra VP, de Albuquerque M, Piccinin CC, Bonadia LC, Duarte Couteiro RE, Sabino de Oliveira D, Claudino R, Magno Gonçalves MV, Dourado MET Jr, de Souza LC, Teixeira AL, de Godoy Rousseff Prado L, Tumas V, Bulle Oliveira AS, Nucci A, Lopes-Cendes I, Marques W Jr, França MC Jr.

Neurobiol Aging. 2018 Sep;69:292.e15-292.e18. doi: 10.1016/j.neurobiolaging.2018.04.020. Epub 2018 May 8.

PMID:
29934271
12.

Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology.

Gondim FAA, Barreira AA, Claudino R, Cruz MW, Cunha FMBD, Freitas MRG, França MC Jr, Gonçalves MVM, Marques W Jr, Nascimento OJM, Oliveira ASB, Pereira RC, Pupe C, Rotta FT, Schestatsky P.

Arq Neuropsiquiatr. 2018 Mar;76(3):200-208. doi: 10.1590/0004-282x20180015.

13.

Phylogenetic insights on Mediterranean and Afrotropical Rhipicephalus species (Acari: Ixodida) based on mitochondrial DNA.

Coimbra-Dores MJ, Maia-Silva M, Marques W, Oliveira AC, Rosa F, Dias D.

Exp Appl Acarol. 2018 May;75(1):107-128. doi: 10.1007/s10493-018-0254-y. Epub 2018 Mar 31.

PMID:
29605833
14.

The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.

Lavigne-Moreira C, Marques VD, Gonçalves MVM, de Oliveira MF, Tomaselli PJ, Nunez JC, do Nascimento OJM, Barreira AA, Marques W Jr.

J Peripher Nerv Syst. 2018 Jun;23(2):134-137. doi: 10.1111/jns.12259. Epub 2018 Apr 10.

PMID:
29520877
15.

Electromyographic characterisation of abdominal wall trigger points developed after caesarean section and response to local anaesthesia: an observational study.

Poli-Neto OB, Campos Martins Chamochumbi C, Toscano P, Pitanguy Julio M, Marques W Jr, Rosa-E-Silva JC, Candido-Dos-Reis FJ, Nogueira AA.

BJOG. 2018 Sep;125(10):1313-1318. doi: 10.1111/1471-0528.15204. Epub 2018 Apr 15.

PMID:
29485706
16.

The frequency of the C9orf72 expansion in a Brazilian population.

Cintra VP, Bonadia LC, Andrade HMT, de Albuquerque M, Eusébio MF, de Oliveira DS, Claudino R, Gonçalves MVM, Teixeira AL Jr, de Godoy Rousseff Prado L, de Souza LC, Dourado MET Jr, Oliveira ASB, Tumas V, França MC Jr, Marques W Jr.

Neurobiol Aging. 2018 Jun;66:179.e1-179.e4. doi: 10.1016/j.neurobiolaging.2018.01.007. Epub 2018 Jan 31.

PMID:
29449030
17.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E.

J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30.

PMID:
29383513
18.

Combined engineering of disaccharide transport and phosphorolysis for enhanced ATP yield from sucrose fermentation in Saccharomyces cerevisiae.

Marques WL, Mans R, Henderson RK, Marella ER, Horst JT, Hulster E, Poolman B, Daran JM, Pronk JT, Gombert AK, van Maris AJA.

Metab Eng. 2018 Jan;45:121-133. doi: 10.1016/j.ymben.2017.11.012. Epub 2017 Dec 2.

PMID:
29196124
19.

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.

20.

Reproductive biology of the Green Ground Snake Erythrolamprus poecilogyrus sublineatus (Serpentes: Dipsadidae) in Subtropical Brazil.

Quintela FM, Marques WC, Loebmann D.

An Acad Bras Cienc. 2017;89(3 Suppl):2189-2197. doi: 10.1590/0001-3765201720160805. Epub 2017 Jul 24.

21.

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

de Carvalho LM, Ngoumou G, Park JW, Ehmke N, Deigendesch N, Kitabayashi N, Melki I, Souza FFL, Tzschach A, Nogueira-Barbosa MH, Ferriani V, Louzada-Junior P, Marques W Jr, Lourenço CM, Horn D, Kallinich T, Stenzel W, Hur S, Rice GI, Crow YJ.

Arthritis Rheumatol. 2017 Oct;69(10):2081-2091. doi: 10.1002/art.40179. Epub 2017 Aug 22.

22.

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
23.

Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.

Cintra VP, Lourenço CM, Rocha MMV, Tomaselli PJ, Marques W Jr.

Acta Neurol Scand. 2017 Nov;136(5):541-545. doi: 10.1111/ane.12744. Epub 2017 Feb 22.

PMID:
28229454
24.

Elimination of sucrose transport and hydrolysis in Saccharomyces cerevisiae: a platform strain for engineering sucrose metabolism.

Marques WL, Mans R, Marella ER, Cordeiro RL, van den Broek M, Daran JG, Pronk JT, Gombert AK, van Maris AJ.

FEMS Yeast Res. 2017 Jan 1;17(1). doi: 10.1093/femsyr/fox006.

25.

The care network of the families involved in violence against children and adolescents: the Primary Health Care perspective.

Carlos DM, de Pádua EMM, da Silva LMP, Silva MAI, Marques WEU, Leitão MNDC, Ferriani MDGC.

J Clin Nurs. 2017 Aug;26(15-16):2452-2467. doi: 10.1111/jocn.13692. Epub 2017 Feb 9.

PMID:
28000373
26.

Ultrasonography of Leprosy Neuropathy: A Longitudinal Prospective Study.

Lugão HB, Frade MA, Marques W Jr, Foss NT, Nogueira-Barbosa MH.

PLoS Negl Trop Dis. 2016 Nov 16;10(11):e0005111. doi: 10.1371/journal.pntd.0005111. eCollection 2016 Nov.

27.

Electrophysiological activity of the pharyngoesophageal transition of total laryngectomees.

Takeshita-Monaretti TK, Aguiar-Ricz L, Bastos P, Marques W Jr, Ricz H.

Laryngoscope. 2017 Jun;127(6):1369-1375. doi: 10.1002/lary.26266. Epub 2016 Sep 26.

PMID:
27716924
28.

The impact of comorbidities on the physical function in patients with rheumatoid arthritis.

Marques WV, Cruz VA, Rego J, Silva NA.

Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):14-21. doi: 10.1016/j.rbre.2015.07.009. Epub 2015 Aug 10. English, Portuguese.

29.

Ordering multigene testing in polyneuropathy.

Fee D, Marques W Jr.

Neurology. 2016 May 10;86(19):1752-3. doi: 10.1212/WNL.0000000000002663. Epub 2016 Apr 13. No abstract available.

PMID:
27164710
30.

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F.

Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec.

31.

Assessing nerves in leprosy.

Garbino JA, Heise CO, Marques W Jr.

Clin Dermatol. 2016 Jan-Feb;34(1):51-8. doi: 10.1016/j.clindermatol.2015.10.018. Epub 2015 Nov 6.

PMID:
26773623
32.

Sucrose and Saccharomyces cerevisiae: a relationship most sweet.

Marques WL, Raghavendran V, Stambuk BU, Gombert AK.

FEMS Yeast Res. 2016 Feb;16(1):fov107. doi: 10.1093/femsyr/fov107. Epub 2015 Dec 10. Review.

PMID:
26658003
33.

Asymmetric Nerve Enlargement: A Characteristic of Leprosy Neuropathy Demonstrated by Ultrasonography.

Lugão HB, Nogueira-Barbosa MH, Marques W Jr, Foss NT, Frade MA.

PLoS Negl Trop Dis. 2015 Dec 8;9(12):e0004276. doi: 10.1371/journal.pntd.0004276. eCollection 2015 Dec.

34.

Production of rhamnolipids and diesel oil degradation by bacteria isolated from soil contaminated by petroleum.

Leite GG, Figueirôa JV, Almeida TC, Valões JL, Marques WF, Duarte MD, Gorlach-Lira K.

Biotechnol Prog. 2016 Mar;32(2):262-70. doi: 10.1002/btpr.2208. Epub 2015 Dec 8.

PMID:
26588432
35.

Rayleigh-Brillouin Scattering in Binary-Gas Mixtures.

Gu Z, Ubachs W, Marques W Jr, van de Water W.

Phys Rev Lett. 2015 Jun 19;114(24):243902. Epub 2015 Jun 17.

PMID:
26196978
36.

Psychiatric disorders, spinocerebellar ataxia type 3 and CAG expansion.

Silva UC, Marques W Jr, Lourenço CM, Hallak JE, Osório FL.

J Neurol. 2015 Jul;262(7):1777-9. doi: 10.1007/s00415-015-7807-3. Epub 2015 Jun 13.

PMID:
26067219
37.

Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy.

Lavigne Moreira C, Marques VD, Lourenço CM, Cabrini DI, Nuñez JC, Herrera RF, Marques W Jr.

J Peripher Nerv Syst. 2015 Mar;20(1):60-2. doi: 10.1111/jns.12112. No abstract available.

PMID:
25857202
38.

[The influence of physical function on the risk of falls among adults with rheumatoid arthritis].

Marques WV, Cruz VA, Rego J, da Silva NA.

Rev Bras Reumatol. 2014 Sep-Oct;54(5):404-8. doi: 10.1016/j.rbr.2014.03.019. Epub 2014 Jul 6. Portuguese.

39.

Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia.

Cintra VP, Lourenço CM, Marques SE, de Oliveira LM, Tumas V, Marques W Jr.

J Neurol Sci. 2014 Dec 15;347(1-2):375-9. doi: 10.1016/j.jns.2014.10.036. Epub 2014 Oct 31.

PMID:
25466696
40.

Flavonoid supplementation affects the expression of genes involved in cell wall formation and lignification metabolism and increases sugar content and saccharification in the fast-growing eucalyptus hybrid E. urophylla x E. grandis.

Lepikson-Neto J, Nascimento LC, Salazar MM, Camargo EL, Cairo JP, Teixeira PJ, Marques WL, Squina FM, Mieczkowski P, Deckmann AC, Pereira GA.

BMC Plant Biol. 2014 Nov 19;14:301. doi: 10.1186/s12870-014-0301-8.

41.

Contrasting nitrogen fertilization treatments impact xylem gene expression and secondary cell wall lignification in Eucalyptus.

Camargo EL, Nascimento LC, Soler M, Salazar MM, Lepikson-Neto J, Marques WL, Alves A, Teixeira PJ, Mieczkowski P, Carazzolle MF, Martinez Y, Deckmann AC, Rodrigues JC, Grima-Pettenati J, Pereira GA.

BMC Plant Biol. 2014 Sep 28;14:256. doi: 10.1186/s12870-014-0256-9.

42.

Balance and muscle power of children with Charcot-Marie-Tooth.

Silva TR, Testa A, Baptista CR, Marques W Jr, Mattiello-Sverzut AC.

Braz J Phys Ther. 2014 Jul-Aug;18(4):334-42. Epub 2014 Jul 25. English, Portuguese.

43.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N.

J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25.

PMID:
25062845
44.

Neuropathy and cough may not be a fortuitous association.

Marques W Jr.

Arq Neuropsiquiatr. 2014 Apr;72(4):265-6. No abstract available.

45.

Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.

Cordeiro JL, Marques W, Hallak JE, Osório FL.

ASN Neuro. 2014 May 27;6(3):185-92. doi: 10.1042/AN20130048. Review.

46.

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S.

Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19.

47.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

48.

Human T-cell leukemia virus (HTLV)-associated neuropathy.

Nascimento OJ, Marques W Jr.

Handb Clin Neurol. 2013;115:531-41. doi: 10.1016/B978-0-444-52902-2.00030-8. Review.

PMID:
23931800
49.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

50.

Quality of life in patients with Charcot-Marie-Tooth disease type 1A.

Taniguchi JB, Elui VM, Osório FL, Hallak JE, Crippa JA, Machado-de-Sousa JP, Kebbe LM, Lourenço CM, Scarel-Caminaga RM, Marques W Jr.

Arq Neuropsiquiatr. 2013 Jun;71(6):392-6. doi: 10.1590/0004-282X20130045.

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