Coutinho P - Search Results

1

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

Martins S, Matamá T, Guimarães L, Vale J, Guimarães J, Ramos L, Coutinho P, Sequeiros J, Silveira I. Martins S, et al. Among authors: coutinho p. Eur J Hum Genet. 2003 Oct;11(10):808-11. doi: 10.1038/sj.ejhg.5201054. Eur J Hum Genet. 2003. PMID: 14512972

2

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles.

Martins S, Seixas AI, Magalhães P, Coutinho P, Sequeiros J, Silveira I. Martins S, et al. Among authors: coutinho p. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):109-14. doi: 10.1002/ajmg.b.30235. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 16184604

3

A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Alonso I, et al. Among authors: coutinho p. J Hum Genet. 2005;50(10):523-529. doi: 10.1007/s10038-005-0287-z. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189624

4

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

Ramos EM, Martins S, Alonso I, Emmel VE, Saraiva-Pereira ML, Jardim LB, Coutinho P, Sequeiros J, Silveira I. Ramos EM, et al. Among authors: coutinho p. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):524-531. doi: 10.1002/ajmg.b.31013. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19676102

5

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J. Silveira I, et al. Among authors: coutinho p. Am J Hum Genet. 2000 Mar;66(3):830-40. doi: 10.1086/302827. Am J Hum Genet. 2000. PMID: 10712199 Free PMC article.

6

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Among authors: coutinho p. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.

7

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P. Alonso I, et al. Among authors: coutinho p. Arch Neurol. 2003 Apr;60(4):610-4. doi: 10.1001/archneur.60.4.610. Arch Neurol. 2003. PMID: 12707077 Free article.

8

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P. Costa MDC, et al. Among authors: coutinho p. J Hum Genet. 2006;51(8):645-651. doi: 10.1007/s10038-006-0001-9. Epub 2006 Jul 21. J Hum Genet. 2006. PMID: 16858508 Free PMC article.

9

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J. Martins S, et al. Among authors: coutinho p. Arch Neurol. 2007 Oct;64(10):1502-8. doi: 10.1001/archneur.64.10.1502. Arch Neurol. 2007. PMID: 17923634

10

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A. Martins S, et al. Among authors: coutinho p. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):439-46. doi: 10.1002/ajmg.b.30624. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17948873

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