Ruiz-Martinez J - Search Results

1

A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene.

Vinagre-Aragón A, Campo-Caballero D, Mondragón-Rezola E, Pardina-Vilella L, Hernandez Eguiazu H, Gorostidi A, Croitoru I, Bergareche A, Ruiz-Martinez J. Vinagre-Aragón A, et al. Front Neurol. 2021 Mar 2;12:635396. doi: 10.3389/fneur.2021.635396. eCollection 2021. Front Neurol. 2021. PMID: 33763016 Free PMC article. Review.

2

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martínez J, Indakoetxea B, Ferrer I, Pérez-Tur J, Sáenz A, Bergareche A, Barandiarán M, Poza JJ, Zabalza R, Ruiz I, Urtasun M, Fernández-Manchola I, Olasagasti B, Espinal JB, Olaskoaga J, Ruibal M, Moreno F, Carrera N, Martí Massó JF. López de Munain A, et al. Biol Psychiatry. 2008 May 15;63(10):946-52. doi: 10.1016/j.biopsych.2007.08.015. Epub 2007 Oct 22. Biol Psychiatry. 2008. PMID: 17950702

3

LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.

Gorostidi A, Ruiz-Martínez J, Lopez de Munain A, Alzualde A, Martí Massó JF. Gorostidi A, et al. Neurogenetics. 2009 Apr;10(2):157-9. doi: 10.1007/s10048-008-0162-0. Epub 2008 Nov 20. Neurogenetics. 2009. PMID: 19020907

4

[Tremor: update and controversy].

Ruiz-Martínez J, Arratibel-Echarren I, Gorostidi-Pagola A, Bergareche A, Martí-Massó JF. Ruiz-Martínez J, et al. Rev Neurol. 2009 Jan 23;48 Suppl 1:S37-41. Rev Neurol. 2009. PMID: 19222014 Free article. Review. Spanish.

5

Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.

Martí-Massó JF, Ruiz-Martínez J, Bolaño MJ, Ruiz I, Gorostidi A, Moreno F, Ferrer I, López de Munain A. Martí-Massó JF, et al. Mov Disord. 2009 Oct 15;24(13):1998-2001. doi: 10.1002/mds.22677. Mov Disord. 2009. PMID: 19735093

6

[Sleep disorders in Parkinson's disease: insomnia and sleep fragmentation, daytime hypersomnia, alterations to the circadian rhythm and sleep apnea syndrome].

Mondragón-Rezola E, Arratíbel-Echarren I, Ruiz-Martínez J, Martí-Massó JF. Mondragón-Rezola E, et al. Rev Neurol. 2010 Feb 8;50 Suppl 2:S21-6. Rev Neurol. 2010. PMID: 20205138 Free article. Review. Spanish.

7

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).

Ruiz-Martínez J, Gorostidi A, Ibañez B, Alzualde A, Otaegui D, Moreno F, López de Munain A, Bergareche A, Gómez-Esteban JC, Martí Massó JF. Ruiz-Martínez J, et al. Mov Disord. 2010 Oct 30;25(14):2340-5. doi: 10.1002/mds.23278. Mov Disord. 2010. PMID: 20721916

8

Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.

Ruiz-Martínez J, Gorostidi A, Goyenechea E, Alzualde A, Poza JJ, Rodríguez F, Bergareche A, Moreno F, López de Munain A, Martí Massó JF. Ruiz-Martínez J, et al. Mov Disord. 2011 Sep;26(11):2026-31. doi: 10.1002/mds.23773. Epub 2011 May 24. Mov Disord. 2011. PMID: 21611983

9

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C. Marti-Masso JF, et al. Hum Genet. 2012 Mar;131(3):435-42. doi: 10.1007/s00439-011-1086-6. Epub 2011 Sep 13. Hum Genet. 2012. PMID: 21912879

10

Αlpha-synuclein levels in blood plasma from LRRK2 mutation carriers.

Gorostidi A, Bergareche A, Ruiz-Martínez J, Martí-Massó JF, Cruz M, Varghese S, Qureshi MM, Alzahmi F, Al-Hayani A, López de Munáin A, El-Agnaf OM. Gorostidi A, et al. PLoS One. 2012;7(12):e52312. doi: 10.1371/journal.pone.0052312. Epub 2012 Dec 27. PLoS One. 2012. PMID: 23300640 Free PMC article.

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