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Items: 12

1.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG.

Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.

2.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]

PMID:
30737337
3.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G.

Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22.

4.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.

Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.

5.

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Mendes MI, Smith DE, Vicente JB, Tavares De Almeida I, Ben-Omran T, Salomons GS, Rivera IA, Leandro P, Blom HJ.

Hum Mol Genet. 2015 Dec 20;24(25):7339-48. doi: 10.1093/hmg/ddv431. Epub 2015 Oct 12.

PMID:
26464485
6.

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Mendes MI, Santos AS, Smith DE, Lino PR, Colaço HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P.

Hum Mutat. 2014 Oct;35(10):1195-202. doi: 10.1002/humu.22616. Epub 2014 Jul 31.

PMID:
25044645
7.

NO* binds human cystathionine β-synthase quickly and tightly.

Vicente JB, Colaço HG, Mendes MI, Sarti P, Leandro P, Giuffrè A.

J Biol Chem. 2014 Mar 21;289(12):8579-87. doi: 10.1074/jbc.M113.507533. Epub 2014 Feb 10.

8.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ.

J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23.

PMID:
23974653
9.

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

Smith DE, Mendes MI, Kluijtmans LA, Janssen MC, Smulders YM, Blom HJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Dec 12;911:186-91. doi: 10.1016/j.jchromb.2012.10.041. Epub 2012 Nov 3.

PMID:
23217323
10.

[Physical activity practice among Brazilian adolescents].

Hallal PC, Knuth AG, Cruz DK, Mendes MI, Malta DC.

Cien Saude Colet. 2010 Oct;15 Suppl 2:3035-42. Portuguese.

11.

[Brazil-Medico and the contributions of medical-hygienist thought to the scientific bases of Brazilian physical education].

Mendes MI, da Nóbrega TP.

Hist Cienc Saude Manguinhos. 2008 Jan-Mar;15(1):209-19. Portuguese.

PMID:
19241681
12.

Selection of muscles as indicators of tenderness after seven days of ageing.

Simões JA, Mendes MI, Lemos JP.

Meat Sci. 2005 Apr;69(4):617-20. doi: 10.1016/j.meatsci.2004.10.012. Epub 2004 Dec 8.

PMID:
22063139

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