Publications Authored by Ignacio Rubio-Agusti

Expanding the Phenotype and Genetic Defects Associated with the Gene.

Authors:

Roman Praschberger Bettina Balint Niccolo E Mencacci Joshua Hersheson Ignacio Rubio-Agusti Dimitri M Kullmann Conceição Bettencourt Kailash Bhatia Henry Houlden

Mov Disord Clin Pract 2015 Sep 17;2(3):271-273. Epub 2015 Jun 17.

Department of Molecular Neuroscience UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery (NHNN) London United Kingdom.

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http://doi.wiley.com/10.1002/mdc3.12190	Publisher Site
http://dx.doi.org/10.1002/mdc3.12190	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178697	PMC

September 2015

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

Authors:

Maja Kojovic Panagiotis Kassavetis Matteo Bologna Isabel Pareés Ignacio Rubio-Agusti Alfredo Berardelli Alfredo Beraredelli Mark J Edwards John C Rothwell Kailash P Bhatia

Mov Disord 2015 Jul 5;30(8):1098-106. Epub 2015 Mar 5.

Sobell Department of Motor Neuroscience & Movement Disorders, UCL, Institute of Neurology, The National Hospital for Neurology & Neurosurgery, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.26167	DOI Listing

July 2015

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

Am J Hum Genet 2015 Jun 14;96(6):938-47. Epub 2015 May 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, WC1N 3BG London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150014	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.04.008	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457957	PMC

June 2015

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

Mov Disord 2014 Dec 25;29(14):1825-8. Epub 2014 Sep 25.

Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain.

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http://dx.doi.org/10.1002/mds.26044	DOI Listing

December 2014

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

Authors:

Roberto Erro Ignacio Rubio-Agusti Tabish A Saifee Carla Cordivari Christos Ganos Amit Batla Kailash P Bhatia

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

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2013-305876	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145451	PMC

September 2014

The phenotypic spectrum of DYT24 due to ANO3 mutations.

Authors:

Maria Stamelou Gavin Charlesworth Carla Cordivari Susanne A Schneider Georg Kägi Una-Marie Sheerin Ignacio Rubio-Agusti Amit Batla Henry Houlden Nicholas W Wood Kailash P Bhatia

Mov Disord 2014 Jun 17;29(7):928-34. Epub 2014 Jan 17.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom; Neurology Clinic, Attiko Hospital, University of Athens, Greece.

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http://doi.wiley.com/10.1002/mds.25802	Publisher Site
http://dx.doi.org/10.1002/mds.25802	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150528	PMC

June 2014

Physical precipitating factors in functional movement disorders.

Authors:

Isabel Pareés Maja Kojovic Carolina Pires Ignacio Rubio-Agusti Tabish A Saifee Anna Sadnicka Panagiotis Kassavetis Antonella Macerollo Kailash P Bhatia Alan Carson Jon Stone Mark J Edwards

J Neurol Sci 2014 Mar 8;338(1-2):174-7. Epub 2014 Jan 8.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.jns.2013.12.046	DOI Listing

March 2014

Functional (psychogenic) symptoms in Parkinson's disease.

Authors:

Isabel Pareés Tabish A Saifee Maja Kojovic Panagiotis Kassavetis Ignacio Rubio-Agusti Anna Sadnicka Kailash P Bhatia Mark J Edwards

Mov Disord 2013 Oct 4;28(12):1622-7. Epub 2013 Jun 4.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25544	DOI Listing

October 2013

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

Authors:

Isabel Sastre-Bataller Juan Francisco Vázquez Irene Martínez-Torres Patricia Sahuquillo Ignacio Rubio-Agustí Juan Andrés Burguera Jose Manuel Ferrer Caridad Valero Jose Ignacio Tembl

Parkinsonism Relat Disord 2013 Aug 14;19(8):732-6. Epub 2013 May 14.

Department of Neurology, Hospital Universitari i Politècnic la Fe, Valencia, Spain.

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http://dx.doi.org/10.1016/j.parkreldis.2013.04.010	DOI Listing

August 2013

Movement disorders in adult patients with classical galactosemia.

Authors:

Ignacio Rubio-Agusti Miryam Carecchio Kailash P Bhatia Maja Kojovic Isabel Parees Hoskote S Chandrashekar Emma J Footitt Derek Burke Mark J Edwards Robin H L Lachmann Elaine Murphy

Mov Disord 2013 Jun 11;28(6):804-10. Epub 2013 Feb 11.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25348	DOI Listing

June 2013

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

Authors:

Maja Kojovic Isabel Pareés Tania Lampreia Karolina Pienczk-Reclawowicz Georgia Xiromerisiou Ignacio Rubio-Agusti Milica Kramberger Miryam Carecchio Anas M Alazami Francesco Brancati Jaroslaw Slawek Zvezdan Pirtosek Enza Maria Valente Fowzan S Alkuraya Mark J Edwards Kailash P Bhatia

Mov Disord 2013 Jun 15;28(6):795-803. Epub 2013 Feb 15.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25394	DOI Listing

June 2013

Limbic encephalitis and related cortical syndromes.

Authors:

Ignacio Rubio-Agusti Miguel Salavert Luis Bataller

Curr Treat Options Neurol 2013 Apr;15(2):169-84

Department of Neurology, Hospital Universitari I Politècnic La Fe, Boulevar Sur s/n, 46026, Valencia, Spain,

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http://dx.doi.org/10.1007/s11940-012-0212-7	DOI Listing

April 2013

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

Authors:

Ignacio Rubio-Agusti Maja Kojovic Mark J Edwards Elaine Murphy Hoskote S Chandrashekar Robin H Lachmann Kailash P Bhatia

Mov Disord 2012 Dec 2;27(14):1769-74. Epub 2012 Nov 2.

Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25229	DOI Listing

December 2012

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

Authors:

Gavin Charlesworth Vincent Plagnol Kira M Holmström Jose Bras Una-Marie Sheerin Elisavet Preza Ignacio Rubio-Agusti Mina Ryten Susanne A Schneider Maria Stamelou Daniah Trabzuni Andrey Y Abramov Kailash P Bhatia Nicholas W Wood

Am J Hum Genet 2012 Dec 29;91(6):1041-50. Epub 2012 Nov 29.

Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297120058	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2012.10.024	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516598	PMC