Publications by authors named "Vladimir Haň"

17Publications

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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November 2020

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Authors:
Michael Zech Theresa Brunet Matej Škorvánek Astrid Blaschek Katharina Vill Britta Hanker Irina Hüning Vladimír Haň Petra Došekova Zuzana Gdovinová Bader Alhaddad Riccardo Berutti Tim M Strom Evžen Růžička Erik-Jan Kamsteeg Jasper J van der Smagt Matias Wagner Robert Jech Juliane Winkelmann

Parkinsonism Relat Disord 2020 08 29;77:70-75. Epub 2020 Jun 29.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

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August 2020

Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia.

Authors:
Vladimir Han Matej Skorvanek Marenka Smit Monika Turcanova Koprusakova Tialda Hoekstra Jitse P van Dijk Marina A J Tijssen Zuzana Gdovinova Sijmen A Reijneveld

Acta Neurol Scand 2020 Dec 13;142(6):613-622. Epub 2020 Jul 13.

Department of Community and Occupational Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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December 2020

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".

Authors:
Petra Dosekova Andrzej Dubiel Anna Karlowicz Szymon Zietkiewicz Malgorzata Rydzanicz Viera Habalova Victor Murcia Pienkowski Miriam Skirkova Vladimir Han Alexandra Mosejova Zuzana Gdovinova Magdalena Kaliszewska Katarzyna Tońska Michal R Szymanski Matej Skorvanek Rafal Ploski

Eur J Med Genet 2020 05 9;63(5):103900. Epub 2020 Mar 9.

Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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May 2020

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

Authors:
Petra Dosekova Andrzej Dubiel Anna Karlowicz Szymon Zietkiewicz Malgorzata Rydzanicz Viera Habalova Victor Murcia Pienkowski Miriam Skirkova Vladimir Han Alexandra Mosejova Zuzana Gdovinova Magdalena Kaliszewska Katarzyna Tońska Michal R Szymanski Matej Skorvanek Rafal Ploski

Eur J Med Genet 2020 Apr 26;63(4):103821. Epub 2019 Nov 26.

Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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April 2020

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Authors:
Kamal Khan Michael Zech Angela T Morgan David J Amor Matej Skorvanek Tahir N Khan Michael S Hildebrand Victoria E Jackson Thomas S Scerri Matthew Coleman Kristin A Rigbye Ingrid E Scheffer Melanie Bahlo Matias Wagner Daniel D Lam Riccardo Berutti Petra Havránková Anna Fečíková Tim M Strom Vladimir Han Petra Dosekova Zuzana Gdovinova Franco Laccone Muhammad Jameel Marie R Mooney Shahid M Baig Robert Jech Erica E Davis Nicholas Katsanis Juliane Winkelmann

Genet Med 2019 11 30;21(11):2532-2542. Epub 2019 Apr 30.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

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November 2019

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Authors:
Matej Skorvanek Petr Dusek Malgorzata Rydzanicz Anna Walczak Joanna Kosinska Grazyna Kostrzewa Malgorzata Brzozowska Vladimir Han Petra Dosekova Zuzana Gdovinova Zdenka Lehotska Pawel Lisowski Rafal Ploski

Parkinsonism Relat Disord 2019 05 24;62:239-241. Epub 2019 Jan 24.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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May 2019

α-Synuclein antibody 5G4 identifies manifest and prodromal Parkinson's disease in colonic mucosa.

Authors:
Matej Skorvanek Ellen Gelpi Eva Mechirova Zuzana Ladomirjakova Vladimir Han Norbert Lesko Eva Feketeova Barbora Repkova Zuzana Urbancikova Adriana Vargova Peter Spisak Joaquim Ribeiro Ventosa Filip Kudela Kristina Kulcsarova Simona Babinska Stefan Toth Laura Gombosova Maria Zakuciova Eduard Veseliny Frantisek Trebuna Mirjam I Lutz Zuzana Gdovinova Gabor G Kovacs

Mov Disord 2018 08;33(8):1366-1368

Institute of Neurology, Medical University of Vienna, Vienna, Austria.

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August 2018

Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients.

Authors:
Matej Skorvanek Pablo Martinez-Martin Norbert Kovacs Ivan Zezula Mayela Rodriguez-Violante Jean-Christophe Corvol Pille Taba Klaus Seppi Oleg Levin Anette Schrag Iciar Aviles-Olmos Mario Alvarez-Sanchez Tomoko Arakaki Zsuzsanna Aschermann Eve Benchetrit Charline Benoit Alberto Bergareche-Yarza Amin Cervantes-Arriaga Anabel Chade Florence Cormier Veronika Datieva David A Gallagher Nelida Garretto Zuzana Gdovinova Oscar Gershanik Milan Grofik Vladimir Han Liis Kadastik-Eerme Monica M Kurtis Graziella Mangone Juan Carlos Martinez-Castrillo Amelia Mendoza-Rodriguez Michal Minar Henry P Moore Mari Muldmaa Christoph Mueller Bernadette Pinter Werner Poewe Karin Rallmann Eva Reiter Carmen Rodriguez-Blazquez Carlos Singer Peter Valkovic Christopher G Goetz Glenn T Stebbins

Parkinsonism Relat Disord 2018 07 28;52:83-89. Epub 2018 Mar 28.

Dept. of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.

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July 2018

The Frequency and Self-perceived Impact on Daily Life of Motor and Non-motor Symptoms in Cervical Dystonia.

Authors:
Marenka Smit Anna L Bartels Anouk Kuiper Arwen S J Kamphuis Vladimir Han Marina A J Tijssen

Mov Disord Clin Pract 2017 Sep-Oct;4(5):750-754. Epub 2017 Jun 15.

Department of Neurology University Medical Center Groningen University of Groningen Groningen the Netherlands.

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June 2017

Prevalence of Prodromal Parkinson's Disease as Defined by MDS Research Criteria among Elderly Patients Undergoing Colonoscopy.

Authors:
Matej Skorvanek Zuzana Ladomirjakova Vladimir Han Norbert Lesko Eva Feketeova Dominika Jarcuskova Barbora Repkova Peter Spisak Zuzana Urbancikova Adriana Vargova Laura Gombosova Maria Zakuciova Eduard Veseliny Frantisek Trebuna Eva Mechirova Zuzana Gdovinova

J Parkinsons Dis 2017 ;7(3):481-489

Department of Neurology, Medical Faculty, P. J. Safarik University, Kosice, Slovakia.

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April 2018

Differences in MDS-UPDRS Scores Based on Hoehn and Yahr Stage and Disease Duration.

Authors:
Matej Skorvanek Pablo Martinez-Martin Norbert Kovacs Mayela Rodriguez-Violante Jean-Christophe Corvol Pille Taba Klaus Seppi Oleg Levin Anette Schrag Thomas Foltynie Mario Alvarez-Sanchez Tomoko Arakaki Zsuzsanna Aschermann Iciar Aviles-Olmos Eve Benchetrit Charline Benoit Alberto Bergareche-Yarza Amin Cervantes-Arriaga Anabel Chade Florence Cormier Veronika Datieva David A Gallagher Nelida Garretto Zuzana Gdovinova Oscar Gershanik Milan Grofik Vladimir Han Jing Huang Liis Kadastik-Eerme Monica M Kurtis Graziella Mangone Juan Carlos Martinez-Castrillo Amelia Mendoza-Rodriguez Michal Minar Henry P Moore Mari Muldmaa Christoph Mueller Bernadette Pinter Werner Poewe Karin Rallmann Eva Reiter Carmen Rodriguez-Blazquez Carlos Singer Barbara C Tilley Peter Valkovic Christopher G Goetz Glenn T Stebbins

Mov Disord Clin Pract 2017 Jul-Aug;4(4):536-544. Epub 2017 Mar 11.

Department of Neurological Sciences Rush University Medical Center Chicago Illinois USA.

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March 2017

Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients.

Authors:
Marenka Smit Arwen S J Kamphuis Anna L Bartels Vladimir Han Roy E Stewart Inge Zijdewind Marina A Tijssen

Mov Disord Clin Pract 2017 Jul-Aug;4(4):517-523. Epub 2016 Dec 5.

Department of Neurology University Medical Center Groningen University of Groningen Groningen the Netherlands.

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December 2016

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Authors:
Simone Olgiati Matej Skorvanek Marialuisa Quadri Michelle Minneboo Josja Graafland Guido J Breedveld Ramon Bonte Zeliha Ozgur Mirjam C G N van den Hout Kees Schoonderwoerd Frans W Verheijen Wilfred F J van IJcken Hsin Fen Chien Egberto Reis Barbosa Hsiu-Chen Chang Szu-Chia Lai Tu-Hsueh Yeh Chin-Song Lu Yah-Huei Wu-Chou Anneke J A Kievit Vladimir Han Zuzana Gdovinova Robert Jech Robert M W Hofstra George J G Ruijter Wim Mandemakers Vincenzo Bonifati

Mov Disord 2016 07 19;31(7):1041-8. Epub 2016 Apr 19.

Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

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July 2016

Validation of the Official Slovak Version of the Unified Dyskinesia Rating Scale (UDysRS).

Authors:
Matej Skorvanek Michal Minar Milan Grofik Katarina Kracunova Vladimir Han Frantisek Cibulcik Jan Necpal Ladislav Gurcik Peter Valkovic

Parkinsons Dis 2015 2;2015:674796. Epub 2015 Jul 2.

2nd Department of Neurology, Faculty of Medicine, Comenius University, 83305 Bratislava, Slovakia ; Institute of Normal and Pathological Physiology, Slovak Academy of Sciences, 81371 Bratislava, Slovakia.

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August 2015

Relationship between the non-motor items of the MDS-UPDRS and Quality of Life in patients with Parkinson's disease.

Authors:
Matej Skorvanek Jaroslav Rosenberger Michal Minar Milan Grofik Vladimir Han Johan W Groothoff Peter Valkovic Zuzana Gdovinova Jitse P van Dijk

J Neurol Sci 2015 17;353(1-2):87-91. Epub 2015 Apr 17.

Graduate School Kosice Institute for Society and Health, Safarik University, Kosice, Slovak Republic; Dept. of Community and Occupational Health, University Medical Center Groningen, Groningen, The Netherlands.

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February 2016

The Clinical Syndrome of Paroxysmal Exercise-Induced Dystonia: Diagnostic Outcomes and an Algorithm.

Authors:
Roberto Erro Maria Stamelou Christos Ganos Matej Skorvanek Vladimir Han Amit Batla Kailash P Bhatia

Mov Disord Clin Pract 2014 Apr 10;1(1):57-61. Epub 2014 Apr 10.

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

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April 2014