Martí-Massó JF - Search Results

1

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Martí Carrera I, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB. Paisán-Ruíz C, et al. Neuron. 2004 Nov 18;44(4):595-600. doi: 10.1016/j.neuron.2004.10.023. Neuron. 2004. PMID: 15541308 Free article.

2

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.

Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J. Simón-Sánchez J, et al. Mov Disord. 2006 Nov;21(11):1954-9. doi: 10.1002/mds.21114. Mov Disord. 2006. PMID: 16991141

3

The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History.

López de Munain A, Martí Massó JF, Pérez Tur J. López de Munain A, et al. Among authors: marti masso jf. Mov Disord. 2020 Apr;35(4):708. doi: 10.1002/mds.27969. Mov Disord. 2020. PMID: 32302032 No abstract available.

4

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.

Clarimón J, Pagonabarraga J, Paisán-Ruíz C, Campolongo A, Pascual-Sedano B, Martí-Massó JF, Singleton AB, Kulisevsky J. Clarimón J, et al. Mov Disord. 2008 Mar 15;23(4):518-23. doi: 10.1002/mds.21771. Mov Disord. 2008. PMID: 18098275

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

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: clinical and demographic characteristics.

Gatto EM, Parisi V, Converso DP, Poderoso JJ, Carreras MC, Martí-Massó JF, Paisán-Ruiz C. Gatto EM, et al. Neurosci Lett. 2013 Mar 14;537:1-5. doi: 10.1016/j.neulet.2013.01.011. Epub 2013 Jan 20. Neurosci Lett. 2013. PMID: 23340200

7

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

8

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.

Ruiz-Martinez J, Krebs CE, Makarov V, Gorostidi A, Martí-Massó JF, Paisán-Ruiz C. Ruiz-Martinez J, et al. J Hum Genet. 2015 Oct;60(10):637-40. doi: 10.1038/jhg.2015.69. Epub 2015 Jul 2. J Hum Genet. 2015. PMID: 26134514 Free PMC article.

9

[Gait analysis in Parkinson's disease and response to dopaminergic treatment].

Moreno Izco F, Poza Aldea JJ, Martí Massó JF, López de Munáin A. Moreno Izco F, et al. Med Clin (Barc). 2005 Jan 22;124(2):50-2. doi: 10.1157/13070451. Med Clin (Barc). 2005. PMID: 15691432 Spanish.

10

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.

Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA. Devine MJ, et al. PLoS One. 2011;6(7):e22489. doi: 10.1371/journal.pone.0022489. Epub 2011 Jul 22. PLoS One. 2011. PMID: 21799870 Free PMC article.

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