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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September 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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June 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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July 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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December 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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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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March 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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September 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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October 2013