Ribeiro MH - Search Results

1

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. Bras J, et al. Among authors: ribeiro mh. Neurobiol Aging. 2009 Sep;30(9):1515-7. doi: 10.1016/j.neurobiolaging.2007.11.016. Epub 2007 Dec 21. Neurobiol Aging. 2009. PMID: 18160183 Free PMC article.

2

Lack of replication of association between GIGYF2 variants and Parkinson disease.

Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB. Bras J, et al. Hum Mol Genet. 2009 Jan 15;18(2):341-6. doi: 10.1093/hmg/ddn340. Epub 2008 Oct 15. Hum Mol Genet. 2009. PMID: 18923002 Free PMC article.

3

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

Guerreiro RJ, Bras JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C. Guerreiro RJ, et al. Among authors: ribeiro mh. BMC Neurol. 2006 Jul 6;6:24. doi: 10.1186/1471-2377-6-24. BMC Neurol. 2006. PMID: 16824219 Free PMC article.

4

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Guerreiro RJ, et al. Among authors: ribeiro mh. Neurobiol Aging. 2010 May;31(5):725-31. doi: 10.1016/j.neurobiolaging.2008.06.012. Epub 2008 Jul 30. Neurobiol Aging. 2010. PMID: 18667258 Free PMC article.

5

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A. Bras J, et al. BMC Neurol. 2008 Jan 22;8:1. doi: 10.1186/1471-2377-8-1. BMC Neurol. 2008. PMID: 18211709 Free PMC article.

6

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.

Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A. Bras JM, et al. Among authors: ribeiro mh. Mov Disord. 2005 Dec;20(12):1653-5. doi: 10.1002/mds.20682. Mov Disord. 2005. PMID: 16149095

7

Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.

Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. Guerreiro RJ, et al. Among authors: ribeiro mh. Mov Disord. 2008 Jul 15;23(9):1269-73. doi: 10.1002/mds.22078. Mov Disord. 2008. PMID: 18464284

8

TREM2 variants in Alzheimer's disease.

Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 Free PMC article.

9

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

Guerreiro R, Brás J, Batista S, Pires P, Ribeiro MH, Almeida MR, Oliveira C, Hardy J, Santana I. Guerreiro R, et al. Among authors: ribeiro mh. Genes Brain Behav. 2016 Sep;15(7):669-77. doi: 10.1111/gbb.12308. Epub 2016 Aug 24. Genes Brain Behav. 2016. PMID: 27415614 Free PMC article.

10

Diagnostic value of CSF protein profile in a Portuguese population of sCJD patients.

Baldeiras IE, Ribeiro MH, Pacheco P, Machado A, Santana I, Cunha L, Oliveira CR. Baldeiras IE, et al. Among authors: ribeiro mh. J Neurol. 2009 Sep;256(9):1540-50. doi: 10.1007/s00415-009-5160-0. Epub 2009 May 6. J Neurol. 2009. PMID: 19418113 Free article.

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