Publications by authors named "Angela Jochim"

28Publications

Structure-function abnormalities in cortical sensory projections in embouchure dystonia.

Neuroimage Clin 2020 Sep 2;28:102410. Epub 2020 Sep 2.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaningerstrasse 22, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2020.102410DOI Listing
September 2020

Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia.

Sci Rep 2020 Jun 23;10(1):10179. Epub 2020 Jun 23.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaningerstrasse, 22, Munich, Germany.

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http://dx.doi.org/10.1038/s41598-020-67295-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311401PMC
June 2020

Treatment of blepharospasm and Meige's syndrome with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice.

J Neurol 2020 Jan 19;267(1):267-275. Epub 2019 Oct 19.

Klinik und Poliklinik für Neurologie, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Str. 22, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09581-wDOI Listing
January 2020

Abnormalities in grey matter structure in embouchure dystonia.

Parkinsonism Relat Disord 2019 08 7;65:111-116. Epub 2019 May 7.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaningerstrasse 22, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.008DOI Listing
August 2019

Treatment of cervical dystonia with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice.

J Neurol 2019 Aug 2;266(8):1879-1886. Epub 2019 May 2.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09349-2DOI Listing
August 2019

Impaired white matter integrity between premotor cortex and basal ganglia in writer's cramp.

Brain Behav 2018 10 21;8(10):e01111. Epub 2018 Sep 21.

Department of Neurology, Klinikum rechts der Isar, Technische Universität Muenchen, Muenchen, Germany.

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http://dx.doi.org/10.1002/brb3.1111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192408PMC
October 2018

Altered functional connectivity in blepharospasm/orofacial dystonia.

Brain Behav 2018 01 18;8(1):e00894. Epub 2017 Dec 18.

Department of Neurology Klinikum rechts der Isar Technische Universität München Munich Germany.

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http://dx.doi.org/10.1002/brb3.894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5853618PMC
January 2018

Network-specific resting-state connectivity changes in the premotor-parietal axis in writer's cramp.

Neuroimage Clin 2018 14;17:137-144. Epub 2017 Oct 14.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaningerstrasse 22, Munich, Germany.

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http://dx.doi.org/10.1016/j.nicl.2017.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650679PMC
June 2018

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).

Parkinsonism Relat Disord 2018 01 14;46:74-78. Epub 2017 Oct 14.

Department of Neurology, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675 München, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.10.008DOI Listing
January 2018

Status Epilepticus After Subthalamic Deep Brain Stimulation Surgery in a Patient with Parkinson's Disease.

World Neurosurg 2016 Dec 24;96:614.e1-614.e6. Epub 2016 Aug 24.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1016/j.wneu.2016.08.067DOI Listing
December 2016

Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

Parkinsonism Relat Disord 2016 10 25;31:119-123. Epub 2016 Jul 25.

Klinik und Poliklinik für Neurologie, Klinikum Rechts der Isar, Technische Universität München, Munich, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.07.013DOI Listing
October 2016

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Mov Disord 2016 05 21;31(5):747-50. Epub 2015 Dec 21.

Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26501DOI Listing
May 2016

Large-scale TUBB4A mutational screening in isolated dystonia and controls.

Parkinsonism Relat Disord 2015 Oct 20;21(10):1278-81. Epub 2015 Aug 20.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.017DOI Listing
October 2015

Periodic hiccup in patients with subthalamic deep brain stimulation for Parkinson's disease.

Parkinsonism Relat Disord 2015 Sep 18;21(9):1117-8. Epub 2015 Jul 18.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.07.010DOI Listing
September 2015

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Am J Hum Genet 2015 Jun 21;96(6):883-93. Epub 2015 May 21.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, CA 94304, USA; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457951PMC
June 2015

Secondary treatment failure in cervical dystonia after treatment with inco- and abobotulinumtoxinA.

Parkinsonism Relat Disord 2015 Jun 19;21(6):663-4. Epub 2015 Mar 19.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.03.016DOI Listing
June 2015

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Mov Disord 2014 Oct 20;29(12):1504-10. Epub 2014 Aug 20.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25981DOI Listing
October 2014

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PLoS One 2013 30;8(12):e82879. Epub 2013 Dec 30.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany ; Institut für Humangenetik, Technische Universität München, Munich, Germany ; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany ; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875432PMC
September 2014

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Mov Disord 2014 Jan 22;29(1):143-7. Epub 2013 Oct 22.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25715DOI Listing
January 2014

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Authors:
Ashley H Beecham Nikolaos A Patsopoulos Dionysia K Xifara Mary F Davis Anu Kemppinen Chris Cotsapas Tejas S Shah Chris Spencer David Booth An Goris Annette Oturai Janna Saarela Bertrand Fontaine Bernhard Hemmer Claes Martin Frauke Zipp Sandra D'Alfonso Filippo Martinelli-Boneschi Bruce Taylor Hanne F Harbo Ingrid Kockum Jan Hillert Tomas Olsson Maria Ban Jorge R Oksenberg Rogier Hintzen Lisa F Barcellos Cristina Agliardi Lars Alfredsson Mehdi Alizadeh Carl Anderson Robert Andrews Helle Bach Søndergaard Amie Baker Gavin Band Sergio E Baranzini Nadia Barizzone Jeffrey Barrett Céline Bellenguez Laura Bergamaschi Luisa Bernardinelli Achim Berthele Viola Biberacher Thomas M C Binder Hannah Blackburn Izaura L Bomfim Paola Brambilla Simon Broadley Bruno Brochet Lou Brundin Dorothea Buck Helmut Butzkueven Stacy J Caillier William Camu Wassila Carpentier Paola Cavalla Elisabeth G Celius Irène Coman Giancarlo Comi Lucia Corrado Leentje Cosemans Isabelle Cournu-Rebeix Bruce A C Cree Daniele Cusi Vincent Damotte Gilles Defer Silvia R Delgado Panos Deloukas Alessia di Sapio Alexander T Dilthey Peter Donnelly Bénédicte Dubois Martin Duddy Sarah Edkins Irina Elovaara Federica Esposito Nikos Evangelou Barnaby Fiddes Judith Field Andre Franke Colin Freeman Irene Y Frohlich Daniela Galimberti Christian Gieger Pierre-Antoine Gourraud Christiane Graetz Andrew Graham Verena Grummel Clara Guaschino Athena Hadjixenofontos Hakon Hakonarson Christopher Halfpenny Gillian Hall Per Hall Anders Hamsten James Harley Timothy Harrower Clive Hawkins Garrett Hellenthal Charles Hillier Jeremy Hobart Muni Hoshi Sarah E Hunt Maja Jagodic Ilijas Jelčić Angela Jochim Brian Kendall Allan Kermode Trevor Kilpatrick Keijo Koivisto Ioanna Konidari Thomas Korn Helena Kronsbein Cordelia Langford Malin Larsson Mark Lathrop Christine Lebrun-Frenay Jeannette Lechner-Scott Michelle H Lee Maurizio A Leone Virpi Leppä Giuseppe Liberatore Benedicte A Lie Christina M Lill Magdalena Lindén Jenny Link Felix Luessi Jan Lycke Fabio Macciardi Satu Männistö Clara P Manrique Roland Martin Vittorio Martinelli Deborah Mason Gordon Mazibrada Cristin McCabe Inger-Lise Mero Julia Mescheriakova Loukas Moutsianas Kjell-Morten Myhr Guy Nagels Richard Nicholas Petra Nilsson Fredrik Piehl Matti Pirinen Siân E Price Hong Quach Mauri Reunanen Wim Robberecht Neil P Robertson Mariaemma Rodegher David Rog Marco Salvetti Nathalie C Schnetz-Boutaud Finn Sellebjerg Rebecca C Selter Catherine Schaefer Sandip Shaunak Ling Shen Simon Shields Volker Siffrin Mark Slee Per Soelberg Sorensen Melissa Sorosina Mireia Sospedra Anne Spurkland Amy Strange Emilie Sundqvist Vincent Thijs John Thorpe Anna Ticca Pentti Tienari Cornelia van Duijn Elizabeth M Visser Steve Vucic Helga Westerlind James S Wiley Alastair Wilkins James F Wilson Juliane Winkelmann John Zajicek Eva Zindler Jonathan L Haines Margaret A Pericak-Vance Adrian J Ivinson Graeme Stewart David Hafler Stephen L Hauser Alastair Compston Gil McVean Philip De Jager Stephen J Sawcer Jacob L McCauley

Nat Genet 2013 Nov 29;45(11):1353-60. Epub 2013 Sep 29.

1] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA. [2].

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http://dx.doi.org/10.1038/ng.2770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832895PMC
November 2013

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Mov Disord 2013 Feb 19;28(2):224-7. Epub 2012 Nov 19.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25256DOI Listing
February 2013

Sustained suppression of holmes tremor after cessation of thalamic stimulation.

Mov Disord 2013 Sep 20;28(10):1456-7. Epub 2013 Feb 20.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Germany.

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http://dx.doi.org/10.1002/mds.25398DOI Listing
September 2013