Publications by authors named "Katharina Vill"

34Publications

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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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

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

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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http://dx.doi.org/10.1016/j.parkreldis.2020.06.027DOI Listing
August 2020

[Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2020 Jul;63(7):891-897

Abteilung Pädiatrische Neurologie, Universitätskinderklinik, Universitätsklinikum Essen, Essen, Deutschland.

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http://dx.doi.org/10.1007/s00103-020-03165-0DOI Listing
July 2020

Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?

Neuropediatrics 2020 10 5;51(5):342-348. Epub 2020 May 5.

Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1055/s-0040-1708859DOI Listing
October 2020

Lymphatic Leakage after Surgery for Neuroblastoma: A Rare Complication?

Eur J Pediatr Surg 2020 Jan 20. Epub 2020 Jan 20.

Department of Pediatric Surgery, Munich University Hospital Dr von Hauner Children's Hospital, Munchen, Germany.

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http://dx.doi.org/10.1055/s-0039-1701008DOI Listing
January 2020

Molecular based newborn screening in Germany: Follow-up for cystinosis.

Mol Genet Metab Rep 2019 Dec 18;21:100514. Epub 2019 Sep 18.

Screening Center, Bavarian Health and Food Safety Authority (LGL), Veterinaerstrasse 2, 85764 Oberschleissheim, Germany.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796768PMC
December 2019

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Clin EEG Neurosci 2020 Jan 25;51(1):61-69. Epub 2019 Sep 25.

Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1177/1550059419876518DOI Listing
January 2020

Arterial ischemic stroke in infants, children, and adolescents: results of a Germany-wide surveillance study 2015-2017.

J Neurol 2019 Dec 23;266(12):2929-2941. Epub 2019 Aug 23.

Department of Pediatric Hemostasis and Thrombosis, LMU Munich, University Hospital, Dr. von Hauner Children`s Hospital, Lindwurmstr. 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09508-5DOI Listing
December 2019

Do patients clinically diagnosed with vascular malformations of 1 lower extremity benefit from imaging of both legs from pelvis to toe? A prospective MRI study.

J Am Acad Dermatol 2020 04 3;82(4):981-984. Epub 2019 Jul 3.

Interdisciplinary Center for Vascular Anomalies, University Clinic and Polyclinic of Radiology, University Hospital Halle, Halle (Saale), Germany.

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http://dx.doi.org/10.1016/j.jaad.2019.06.1305DOI Listing
April 2020

Symptom patterns in childhood arterial ischemic stroke: Analysis of a population-based study in Germany.

Klin Padiatr 2018 Oct 10;230(6):319-325. Epub 2018 Oct 10.

LMU Munich, University Hospital, Dr. von Hauner Children̛s Hospital, Department of Pediatric Hemostasis and Thrombosis, Munich.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0684-9794
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http://dx.doi.org/10.1055/a-0684-9794DOI Listing
October 2018

Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology.

Acta Neurol Scand 2018 Dec 19;138(6):475-481. Epub 2018 Sep 19.

Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, Munich, Germany.

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http://dx.doi.org/10.1111/ane.13015DOI Listing
December 2018

Childhood Stroke: Awareness, Interest, and Knowledge Among the Pediatric Community.

Front Pediatr 2018 25;6:182. Epub 2018 Jun 25.

Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilians University of Munich, Munich, Germany.

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http://dx.doi.org/10.3389/fped.2018.00182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026646PMC
June 2018

Fetal alcohol spectrum disorders (FASD) - What we know and what we should know - The knowledge of German health professionals and parents.

Eur J Paediatr Neurol 2018 May 2;22(3):507-515. Epub 2018 Mar 2.

Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University LMU, Lindwurmstrasse 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2018.02.010DOI Listing
May 2018

Risk factors in childhood arterial ischaemic stroke: Findings from a population-based study in Germany.

Eur J Paediatr Neurol 2018 May 10;22(3):380-386. Epub 2018 Jan 10.

Department of Paediatric Haemostaseolgy, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Lindwurmstr. 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2018.01.001DOI Listing
May 2018

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.

Eur J Paediatr Neurol 2018 Jan 1;22(1):72-81. Epub 2017 Sep 1.

Institute of Clinical Neuroimmunology, Marchioninistraße 15, 81377 München, Ludwig-Maximillian's University, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.08.007DOI Listing
January 2018

Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.

Neuropediatrics 2017 12 22;48(6):420-425. Epub 2017 Jun 22.

Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1603778DOI Listing
December 2017

Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant?

Neuropediatrics 2017 08 19;48(4):221-225. Epub 2017 Jun 19.

Department of Pediatric Neurology, Dr. v. Hauner Kinderklinik, University of Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1603777DOI Listing
August 2017

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Mov Disord 2017 05 2;32(5):797-799. Epub 2017 Feb 2.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26922DOI Listing
May 2017

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 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.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9948-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987390PMC
September 2016

Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information?

Eur J Paediatr Neurol 2015 Nov 20;19(6):640-6. Epub 2015 Aug 20.

Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.08.002DOI Listing
November 2015

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

Neuropediatrics 2015 Aug 25;46(4):282-6. Epub 2015 Jun 25.

Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0035-1554100DOI Listing
August 2015

Pediatric idiopathic inflammatory myopathies: an update on diagnostic and treatment strategies.

Neuropediatrics 2013 Dec 7;44(6):314-23. Epub 2013 Nov 7.

Dr. von Hauner Children's Hospital, Ludwig-Maximilian University of Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0033-1358600DOI Listing
December 2013