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Items: 1 to 50 of 193

1.

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.

Ruiz-Martínez J, Azcona LJ, Bergareche A, Martí-Massó JF, Paisán-Ruiz C.

Neurol Genet. 2017 Aug 2;3(5):e177. doi: 10.1212/NXG.0000000000000177. eCollection 2017 Oct.

2.

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.

Moreno F, Indakoetxea B, Barandiaran M, Caballero MC, Gorostidi A, Calafell F, Gabilondo A, Tainta M, Zulaica M, Martí Massó JF, López de Munain A, Sánchez-Juan P, Lee SE.

PLoS One. 2017 Jun 8;12(6):e0178093. doi: 10.1371/journal.pone.0178093. eCollection 2017.

3.

Tau/α-synuclein ratio and inflammatory proteins in Parkinson's disease: An exploratory study.

Delgado-Alvarado M, Gago B, Gorostidi A, Jiménez-Urbieta H, Dacosta-Aguayo R, Navalpotro-Gómez I, Ruiz-Martínez J, Bergareche A, Martí-Massó JF, Martínez-Lage P, Izagirre A, Rodríguez-Oroz MC.

Mov Disord. 2017 Jul;32(7):1066-1073. doi: 10.1002/mds.27001. Epub 2017 May 26.

PMID:
28548309
4.

Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease.

Brockmann K, Schulte C, Schneiderhan-Marra N, Apel A, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Bernard A, Gasser T, Marras C, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Berg D, Maetzler W.

Eur J Neurol. 2017 Feb;24(2):427-e6. doi: 10.1111/ene.13223.

PMID:
28102045
5.

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area.

Andrés N, Poza JJ, Martí Massó JF.

Neurologia. 2016 Oct 26. pii: S0213-4853(16)30174-8. doi: 10.1016/j.nrl.2016.07.009. [Epub ahead of print] English, Spanish.

6.

Headache and other complications following intrathecal chemotherapy administration.

De la Riva P, Andres-Marín N, Gonzalo-Yubero N, Tainta-Cuezva M, Caminos N, Urtasun-Ocariz MÁ, Martí-Massó JF.

Cephalalgia. 2017 Oct;37(11):1109-1110. doi: 10.1177/0333102416668658. Epub 2016 Sep 1. No abstract available.

PMID:
27586881
7.

[Rhomboencephalitis and endocarditis caused by Listeria monocytogenes: an unreported association].

Tainta M, de la Riva P, Gonzalez F, Marti-Masso JF, Goenaga MA.

Rev Neurol. 2016 Jul 1;63(1):46-8. Spanish. No abstract available.

8.

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.

Mol Diagn Ther. 2016 Oct;20(5):481-91. doi: 10.1007/s40291-016-0216-1.

PMID:
27294386
9.

Inflammatory profile in LRRK2-associated prodromal and clinical PD.

Brockmann K, Apel A, Schulte C, Schneiderhan-Marra N, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Gasser T, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Marras C, Berg D, Maetzler W.

J Neuroinflammation. 2016 May 24;13(1):122. doi: 10.1186/s12974-016-0588-5.

10.

Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.

Fraser KB, Moehle MS, Alcalay RN, West AB; LRRK2 Cohort Consortium.

Neurology. 2016 Mar 15;86(11):994-9. doi: 10.1212/WNL.0000000000002436. Epub 2016 Feb 10.

11.

Reversible delayed post-hypoxic leukoencephalopathy.

Tainta M, de la Riva P, Urtasun MÁ, Martí-Massó JF.

Neurologia. 2018 Jan - Feb;33(1):59-61. doi: 10.1016/j.nrl.2015.11.011. Epub 2016 Jan 13. English, Spanish. No abstract available.

12.

DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease.

Bergareche A, Rodríguez-Oroz MC, Estanga A, Gorostidi A, López de Munain A, Castillo-Triviño T, Ruiz-Martínez J, Mondragón E, Gaig C, Lomeña F, Sarasqueta C, Tolosa E, Martí-Massó JF.

Mov Disord. 2016 Mar;31(3):335-43. doi: 10.1002/mds.26478. Epub 2015 Dec 21.

PMID:
26686514
13.

Congenital Spinal Malformation and Stroke: Aneurysmal Dilatations and Bilateral Rotational Vertebral Artery Occlusion.

de la Riva P, Martínez-Zabaleta MT, Pardo E, Samprón N, Mondragón-Rezola E, Arruti González M, Larrea JÁ, Martí-Massó JF.

J Stroke Cerebrovasc Dis. 2016 Mar;25(3):e23-4. doi: 10.1016/j.jstrokecerebrovasdis.2015.11.008. Epub 2015 Dec 8.

PMID:
26679068
14.

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.

Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.

15.

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.

ASN Neuro. 2015 Aug 21;7(4). pii: 1759091415598290. doi: 10.1177/1759091415598290. Print 2015 Jul-Aug.

16.

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.

Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, Keller MF, Molony C, Gibbs JR, Chen-Plotkin A, Suh E, Letson C, Fiandaca MS, Mapstone M, Federoff HJ, Noyce AJ, Morris H, Van Deerlin VM, Weintraub D, Zabetian C, Hernandez DG, Lesage S, Mullins M, Conley ED, Northover CA, Frasier M, Marek K, Day-Williams AG, Stone DJ, Ioannidis JP, Singleton AB; Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators.

Lancet Neurol. 2015 Oct;14(10):1002-9. doi: 10.1016/S1474-4422(15)00178-7. Epub 2015 Aug 10.

17.

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.

J Hum Genet. 2015 Oct;60(10):637-40. doi: 10.1038/jhg.2015.69. Epub 2015 Jul 2.

18.

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations.

Tijero B, Gabilondo I, Lezcano E, Teran-Villagrá N, Llorens V, Ruiz-Martinez J, Marti-Masso JF, Carmona M, Luquin MR, Berganzo K, Fernandez I, Fernandez M, Zarranz JJ, Gómez-Esteban JC.

Parkinsonism Relat Disord. 2015 Jul;21(7):717-22. doi: 10.1016/j.parkreldis.2015.04.012. Epub 2015 Apr 23.

PMID:
25960264
19.

Javier Urcola Echeverría (1937-2014).

Martí Massó JF.

Neurologia. 2015 Mar;30(2):135-6. English, Spanish. No abstract available.

20.

Neurogenetic disorders in the Basque population.

Martí Massó JF, Zarranz JJ, Otaegui D, López de Munain A.

Ann Hum Genet. 2015 Jan;79(1):57-75. doi: 10.1111/ahg.12088. Epub 2014 Dec 1. Review.

21.

Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.

Agalliu I, San Luciano M, Mirelman A, Giladi N, Waro B, Aasly J, Inzelberg R, Hassin-Baer S, Friedman E, Ruiz-Martinez J, Marti-Masso JF, Orr-Urtreger A, Bressman S, Saunders-Pullman R.

JAMA Neurol. 2015 Jan;72(1):58-65. doi: 10.1001/jamaneurol.2014.1973.

22.

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martínez J, Marti-Masso JF, Ferrer I, López de Munain A, Goldman SM, Schüle B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, Maues De Paula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C.

JAMA Neurol. 2015 Jan;72(1):100-5. doi: 10.1001/jamaneurol.2014.2704.

23.

Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2.

Estanga A, Rodriguez-Oroz MC, Ruiz-Martinez J, Barandiaran M, Gorostidi A, Bergareche A, Mondragon E, Lopez de Munain A, Marti-Masso JF.

Parkinsonism Relat Disord. 2014 Oct;20(10):1097-100. doi: 10.1016/j.parkreldis.2014.07.005. Epub 2014 Jul 30.

PMID:
25127457
24.

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.

Alcalay RN, Aasly J, Berg D, Bressman S, Brice A, Brockmann K, Chan P, Clark L, Cormier F, Corvol JC, Durr A, Facheris M, Farrer M, Foroud TM, Gasser T, Giladi N, Halter C, Lang A, Langston JW, Marras C, Marti-Masso JF, Ruiz Martinez J, Mejia-Santana H, Mirelman A, Pont-Sunyer C, Orr-Urtreger A, Raymond D, Saunders-Pullman R, Schüle B, Tanner C, Tolosa E, Urkowitz A, Vilas D, Wise A, Marder K.

Genet Med. 2014 Aug;16(8):644-5. doi: 10.1038/gim.2014.55. No abstract available.

25.

Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.

Ruiz-Martínez J, de la Riva P, Rodríguez-Oroz MC, Mondragón Rezola E, Bergareche A, Gorostidi A, Gago B, Estanga A, Larrañaga N, Sarasqueta C, López de Munain A, Martí Massó JF.

Mov Disord. 2014 May;29(6):750-5. doi: 10.1002/mds.25778. Epub 2013 Dec 19.

PMID:
24357540
26.

Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.

Manzoni C, Mamais A, Dihanich S, McGoldrick P, Devine MJ, Zerle J, Kara E, Taanman JW, Healy DG, Marti-Masso JF, Schapira AH, Plun-Favreau H, Tooze S, Hardy J, Bandopadhyay R, Lewis PA.

Biochem Biophys Res Commun. 2013 Nov 29;441(4):862-6. doi: 10.1016/j.bbrc.2013.10.159. Epub 2013 Nov 6.

27.

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.

J Mol Med (Berl). 2013 Dec;91(12):1399-406. doi: 10.1007/s00109-013-1075-4. Epub 2013 Aug 20.

28.

[Acute cerebellitis following Epstein-Barr virus infection in two young women].

de la Riva P, Martínez-Zabaleta MT, Arruti M, Díez-González N, Mondragón-Rezola E, Gonzalo-Yubero N, Tainta-Cuezva M, Martí-Massó JF.

Rev Neurol. 2013 Feb 16;56(4):252-3. Spanish. No abstract available.

29.

The effect of visual cues on the number and duration of freezing episodes in Parkinson's patients.

Velik R, Hoffmann U, Zabaleta H, Marti Masso JF, Keller T.

Conf Proc IEEE Eng Med Biol Soc. 2012;2012:4656-9. doi: 10.1109/EMBC.2012.6347005.

PMID:
23366966
30.

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.

Neurosci Lett. 2013 Mar 14;537:1-5. doi: 10.1016/j.neulet.2013.01.011. Epub 2013 Jan 20.

PMID:
23340200
31.

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.

PLoS One. 2012;7(12):e52312. doi: 10.1371/journal.pone.0052312. Epub 2012 Dec 27.

32.

Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers.

Moreno F, Sala-Llonch R, Barandiaran M, Sánchez-Valle R, Estanga A, Bartrés-Faz D, Sistiaga A, Alzualde A, Fernández E, Martí Massó JF, López de Munain A, Indakoetxea B.

Neurobiol Aging. 2013 May;34(5):1462-8. doi: 10.1016/j.neurobiolaging.2012.11.005. Epub 2012 Dec 4.

PMID:
23218900
33.

Neuropsychological features of asymptomatic c.709-1G>A progranulin mutation carriers.

Barandiaran M, Estanga A, Moreno F, Indakoetxea B, Alzualde A, Balluerka N, Martí Massó JF, López de Munain A.

J Int Neuropsychol Soc. 2012 Nov;18(6):1086-90. doi: 10.1017/S1355617712000823.

PMID:
23158232
34.

[Response to treatment with corticoids in a case of inflammatory amyloid angiopathy without performing a biopsy].

de la Riva P, Moreno F, Carrera N, Barandiarán M, Arruti M, Martí-Massó JF.

Rev Neurol. 2012 Oct 1;55(7):408-12. Spanish.

35.

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Wray S, Self M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J.

PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27.

36.

[Autoimmune hepatitis in a patient with multiple sclerosis under treatment with glatiramer acetate].

Arruti M, Castillo-Triviño T, de la Riva P, Martí-Massó JF, López de Munain A, Olascoaga J.

Rev Neurol. 2012 Aug 1;55(3):190-2. Spanish. No abstract available.

37.

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.

Hum Genet. 2012 Mar;131(3):435-42. doi: 10.1007/s00439-011-1086-6. Epub 2011 Sep 13.

PMID:
21912879
38.

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.

PLoS One. 2011;6(7):e22489. doi: 10.1371/journal.pone.0022489. Epub 2011 Jul 22. Erratum in: PLoS One. 2012;7(1). doi:10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.. Healey, Daniel [corrected to Healy, Daniel].

39.

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.

Mov Disord. 2011 Sep;26(11):2026-31. doi: 10.1002/mds.23773. Epub 2011 May 24.

PMID:
21611983
40.

[Adrenoleukodystrophy. An inusual cause of primary adrenal insufficiency].

Pérez Fernández N, Yoldi Arrieta A, Martí-Massó JF, Bilbao Garay I.

Rev Clin Esp. 2011 Oct;211(9):e55-7. doi: 10.1016/j.rce.2011.02.015. Epub 2011 May 2. Spanish. No abstract available.

PMID:
21543063
41.

Genetic variation in α-synuclein kinases (CK-2β and GRK-5) and risk of Parkinson's disease.

García-Gorostiaga I, Sierra M, Sánchez-Juan P, Ruiz-Martínez J, Gorostidi A, González-Aramburu I, Martí-Massó JF, Berciano J, Combarros O, Infante J.

Parkinsonism Relat Disord. 2011 Jul;17(6):496-7. doi: 10.1016/j.parkreldis.2011.04.003. Epub 2011 Apr 22. No abstract available.

PMID:
21514207
42.

Hypoxic ischaemic encephalopathy: lesions on magnetic resonance.

de la Riva P, Maneiro M, Martí-Massó JF, López de Munain A.

Neurologia. 2011 Jul-Aug;26(6):371-2. doi: 10.1016/j.nrl.2010.12.005. Epub 2011 Feb 22. English, Spanish. No abstract available.

43.

[Parkinsonism induced by sulpiride and veralipride: two different stories].

Martí Massó JF, Ruiz-Martínez J, Bergareche A, López de Munain A.

Med Clin (Barc). 2011 Oct 15;137(10):473-4. doi: 10.1016/j.medcli.2010.09.038. Epub 2011 Feb 4. Spanish. No abstract available.

PMID:
21295788
44.

10-year stroke prevention after successful carotid endarterectomy for asymptomatic stenosis (ACST-1): a multicentre randomised trial.

Halliday A, Harrison M, Hayter E, Kong X, Mansfield A, Marro J, Pan H, Peto R, Potter J, Rahimi K, Rau A, Robertson S, Streifler J, Thomas D; Asymptomatic Carotid Surgery Trial (ACST) Collaborative Group.

Lancet. 2010 Sep 25;376(9746):1074-84. doi: 10.1016/S0140-6736(10)61197-X.

45.

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.

Mov Disord. 2010 Oct 30;25(14):2340-5. doi: 10.1002/mds.23278.

PMID:
20721916
46.

Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.

Moreno F, Alzualde A, Camblor PM, Barandiaran M, Van Deerlin VM, Gabilondo A, Martí Massó JF, López de Munain A, Indakoetxea B.

Alzheimer Dis Assoc Disord. 2011 Jan-Mar;25(1):93-5. doi: 10.1097/WAD.0b013e3181eff695.

47.

[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.

Rev Neurol. 2010 Feb 8;50 Suppl 2:S21-6. Review. Spanish.

48.

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

Paisán-Ruiz C, Ruiz-Martinez J, Ruibal M, Mok KY, Indakoetxea B, Gorostidi A, Martí Massó JF.

Mov Disord. 2009 Dec 15;24(16):2428-9. doi: 10.1002/mds.22849. No abstract available.

PMID:
19908320
49.

"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation.

Moreno F, Indakoetxea B, Barandiaran M, Alzualde A, Gabilondo A, Estanga A, Ruiz J, Ruibal M, Bergareche A, Martí-Massó JF, López de Munain A.

Neurology. 2009 Oct 27;73(17):1367-74. doi: 10.1212/WNL.0b013e3181bd82a7.

PMID:
19858458
50.

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.

Mov Disord. 2009 Oct 15;24(13):1998-2001. doi: 10.1002/mds.22677.

PMID:
19735093

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