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Items: 24

1.

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.

Praschberger R, Balint B, Mencacci NE, Hersheson J, Rubio-Agusti I, Kullmann DM, Bettencourt C, Bhatia K, Houlden H.

Mov Disord Clin Pract. 2015 Jun 17;2(3):271-273. doi: 10.1002/mdc3.12190. eCollection 2015 Sep.

2.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW.

Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.

3.

Transcranial magnetic stimulation follow-up study in early Parkinson's disease: A decline in compensation with disease progression?

Kojovic M, Kassavetis P, Bologna M, Pareés I, Rubio-Agusti I, Berardelli A, Edwards MJ, Rothwell JC, Bhatia KP.

Mov Disord. 2015 Jul;30(8):1098-106. doi: 10.1002/mds.26167. Epub 2015 Mar 5. Erratum in: Mov Disord. 2015 Dec;30(14):1997. Beraredelli, Alfredo [Corrected to Berardelli, Alfredo].

PMID:
25753906
4.

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

Gómez-Garre P, Huertas-Fernández I, Cáceres-Redondo MT, Alonso-Canovas A, Bernal-Bernal I, Blanco-Ollero A, Bonilla-Toribio M, Burguera JA, Carballo M, Carrillo F, José Catalán-Alonso M, Escamilla-Sevilla F, Espinosa-Rosso R, Carmen Fernández-Moreno M, García-Caldentey J, García-Moreno JM, Giacometti-Silveira S, Gutiérrez-García J, Jesús-Maestre S, López-Valdés E, Martínez-Castrillo JC, Medialdea-Natera MP, Méndez-Lucena C, Mínguez-Castellanos A, Angel Moya M, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Rubio-Agusti I, Sillero-Sánchez M, Del Val J, Vargas-González L, Mir P.

Mov Disord. 2014 Dec;29(14):1825-8. doi: 10.1002/mds.26044. Epub 2014 Sep 25.

PMID:
25256078
5.

The phenotypic spectrum of DYT24 due to ANO3 mutations.

Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP.

Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17.

6.

Physical precipitating factors in functional movement disorders.

Pareés I, Kojovic M, Pires C, Rubio-Agusti I, Saifee TA, Sadnicka A, Kassavetis P, Macerollo A, Bhatia KP, Carson A, Stone J, Edwards MJ.

J Neurol Sci. 2014 Mar 15;338(1-2):174-7. doi: 10.1016/j.jns.2013.12.046. Epub 2014 Jan 8.

PMID:
24439198
7.

Rest and other types of tremor in adult-onset primary dystonia.

Erro R, Rubio-Agusti I, Saifee TA, Cordivari C, Ganos C, Batla A, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):965-8. doi: 10.1136/jnnp-2013-305876. Epub 2013 Nov 18.

8.

Functional (psychogenic) symptoms in Parkinson's disease.

Pareés I, Saifee TA, Kojovic M, Kassavetis P, Rubio-Agusti I, Sadnicka A, Bhatia KP, Edwards MJ.

Mov Disord. 2013 Oct;28(12):1622-7. doi: 10.1002/mds.25544. Epub 2013 Jun 4.

PMID:
23737007
9.

Mesencephalic area measured by transcranial sonography in the differential diagnosis of parkinsonism.

Sastre-Bataller I, Vázquez JF, Martínez-Torres I, Sahuquillo P, Rubio-Agustí I, Burguera JA, Ferrer JM, Valero C, Tembl JI.

Parkinsonism Relat Disord. 2013 Aug;19(8):732-6. doi: 10.1016/j.parkreldis.2013.04.010. Epub 2013 May 14.

PMID:
23684370
10.

Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.

Rubio-Agusti I, Pareés I, Kojovic M, Stamelou M, Saifee TA, Charlesworth G, Sheerin UM, Edwards MJ, Bhatia KP.

Parkinsonism Relat Disord. 2013 Jun;19(6):634-8. doi: 10.1016/j.parkreldis.2013.02.017. Epub 2013 Mar 21.

11.

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP.

Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15.

PMID:
23418071
12.

Movement disorders in adult patients with classical galactosemia.

Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E.

Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11.

PMID:
23400815
13.

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.

Kojovic M, Sheerin UM, Rubio-Agusti I, Saha A, Bras J, Gibbons V, Palmer R, Houlden H, Hardy J, Wood NW, Bhatia KP.

Mov Disord. 2012 Dec;27(14):1827-9. doi: 10.1002/mds.25199. No abstract available.

14.

Limbic encephalitis and related cortical syndromes.

Rubio-Agusti I, Salavert M, Bataller L.

Curr Treat Options Neurol. 2013 Apr;15(2):169-84. doi: 10.1007/s11940-012-0212-7.

PMID:
23250843
15.

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW.

Am J Hum Genet. 2012 Dec 7;91(6):1041-50. doi: 10.1016/j.ajhg.2012.10.024. Epub 2012 Nov 29.

16.

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.

Rubio-Agusti I, Kojovic M, Edwards MJ, Murphy E, Chandrashekar HS, Lachmann RH, Bhatia KP.

Mov Disord. 2012 Dec;27(14):1769-74. doi: 10.1002/mds.25229. Epub 2012 Nov 2. Review.

PMID:
23124517
17.

The brighter side of music in dystonia.

Kojovic M, Pareés I, Sadnicka A, Kassavetis P, Rubio-Agusti I, Saifee TA, Bologna M, Rothwell JC, Edwards MJ, Bhatia KP.

Arch Neurol. 2012 Jul;69(7):917-9.

PMID:
22431838
18.

Cervical dystonia and joint hypermobility syndrome: a dangerous combination.

Rubio-Agusti I, Kojovic M, Chandrashekar HS, Edwards MJ, Bhatia KP.

Mov Disord. 2012 Feb;27(2):203-4. doi: 10.1002/mds.24013. No abstract available.

PMID:
22328463
19.

Believing is perceiving: mismatch between self-report and actigraphy in psychogenic tremor.

Pareés I, Saifee TA, Kassavetis P, Kojovic M, Rubio-Agusti I, Rothwell JC, Bhatia KP, Edwards MJ.

Brain. 2012 Jan;135(Pt 1):117-23. doi: 10.1093/brain/awr292. Epub 2011 Nov 10.

PMID:
22075068
20.

Characteristic constant groaning in late stage progressive supranuclear palsy: a case report.

Stamelou M, Rubio-Agusti I, Quinn N, Bhatia K.

Parkinsonism Relat Disord. 2011 Aug;17(7):575-6. doi: 10.1016/j.parkreldis.2011.04.015. Epub 2011 May 14. No abstract available.

PMID:
21571571
21.

Isolated hemidystonia associated with NMDA receptor antibodies.

Rubio-Agustí I, Dalmau J, Sevilla T, Burgal M, Beltrán E, Bataller L.

Mov Disord. 2011 Feb 1;26(2):351-2. doi: 10.1002/mds.23315. Epub 2010 Dec 15. No abstract available.

22.

Peripheral nerve hyperexcitability: a clinical and immunologic study of 38 patients.

Rubio-Agusti I, Perez-Miralles F, Sevilla T, Muelas N, Chumillas MJ, Mayordomo F, Azorin I, Carmona E, Moscardo F, Palau J, Jacobson L, Vincent A, Vilchez JJ, Bataller L.

Neurology. 2011 Jan 11;76(2):172-8. doi: 10.1212/WNL.0b013e3182061b1e.

PMID:
21220721
23.

[Familial idiopathic paroxysmal kinesigenic dyskinesia: its natural history and a descriptive study in three Spanish families].

Palau-Bargues J, Rubio-Agusti I, Burguera JA, Vilchez-Padilla JJ, Villanueva VE.

Rev Neurol. 2010 Apr 1;50(7):390-4. Spanish.

24.

[Brain and spinal involvement in Neuro-Behçet disease].

Rubio-Agustí I, Bosca ME, Casanova B.

Neurologia. 2009 Nov;24(9):811-2. Spanish. No abstract available.

PMID:
21473022

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