Marti-Masso JF - Search Results

1

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

2

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.

3

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De La Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C. Bergareche A, et al. Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1. Hum Mol Genet. 2015. PMID: 26427606 Free PMC article.

4

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, López de Munain A, Poza JJ, Striano P, Buxbaum JD, Paisán-Ruiz C. Martí-Massó JF, et al. J Mol Med (Berl). 2013 Dec;91(12):1399-406. doi: 10.1007/s00109-013-1075-4. Epub 2013 Aug 20. J Mol Med (Berl). 2013. PMID: 23955123 Free PMC article.

5

Neurogenetic disorders in the Basque population.

Martí Massó JF, Zarranz JJ, Otaegui D, López de Munain A. Martí Massó JF, et al. Ann Hum Genet. 2015 Jan;79(1):57-75. doi: 10.1111/ahg.12088. Epub 2014 Dec 1. Ann Hum Genet. 2015. PMID: 25440984 Review.

6

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

Sánchez E, Bergareche A, Krebs CE, Gorostidi A, Makarov V, Ruiz-Martinez J, Chorny A, Lopez de Munain A, Marti-Masso JF, Paisán-Ruiz C. Sánchez E, et al. ASN Neuro. 2015 Aug 21;7(4):1759091415598290. doi: 10.1177/1759091415598290. Print 2015 Jul-Aug. ASN Neuro. 2015. PMID: 26297037 Free PMC article.

7

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

8

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

9

Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.

Gorostidi A, Martí-Massó JF, Bergareche A, Rodríguez-Oroz MC, López de Munain A, Ruiz-Martínez J. Gorostidi A, et al. Among authors: marti masso jf. Mol Diagn Ther. 2016 Oct;20(5):481-91. doi: 10.1007/s40291-016-0216-1. Mol Diagn Ther. 2016. PMID: 27294386

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

196 results

Search Page