Publications by authors named "Astrid Blaschek"

43Publications

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

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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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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August 2020

[Analysis of motor development within the first year of life: 3-D motion tracking without markers for early detection of developmental disorders].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2020 Jul;63(7):881-890

Dr. von Haunersches Kinderspital, iSPZ Hauner, Klinikum der Universität München, Kinderklinik und Kinderpoliklinik, Lindwurmstr. 4, 80337, München, Deutschland.

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July 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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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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October 2020

Fatigue and depression predict health-related quality of life in patients with pediatric-onset multiple sclerosis.

Mult Scler Relat Disord 2019 Nov 9;36:101368. Epub 2019 Aug 9.

Department of Pediatrics, Child and Adolescent Psychosomatics, Technische Universität München, Heigelhofstr. 63, 81377 Munich, Germany.

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November 2019

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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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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December 2017

Autoantibodies to MOG in a distinct subgroup of adult multiple sclerosis.

Neurol Neuroimmunol Neuroinflamm 2016 Oct 30;3(5):e257. Epub 2016 Jun 30.

Institute of Clinical Neuroimmunology (M.S., L.A.G., M.K., F.S.T., E.S., R.H., E.M., T.K.), Department of Radiology (B.E.-W.), and Laboratory for Immunogenetics (A.D.), Medical Campus Großhadern, Ludwig-Maximilians-Universität München; Department of Neurology (M.K.), Hertie Institut für klinische Hirnforschung, Universitätsklinikum Tübingen; Department of Neuropathology (I.M., W.B.), University Medical Center, Georg August University, Göttingen; Department of Paediatric Neurology and Developmental Medicine (A.B.), Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München; and Munich Cluster for Systems Neurology (SyNergy) (R.H.), Munich, Germany.

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October 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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November 2015

Patient-specific determinants of responsiveness to robot-enhanced treadmill therapy in children and adolescents with cerebral palsy.

Dev Med Child Neurol 2014 12 25;56(12):1172-1179. Epub 2014 Aug 25.

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

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December 2014

Early infantile sensory-motor neuropathy with late onset respiratory distress.

Neuromuscul Disord 2014 Mar 1;24(3):269-71. Epub 2013 Dec 1.

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

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March 2014

Neuropsychological aspects of childhood multiple sclerosis: an overview.

Neuropediatrics 2012 Aug 17;43(4):176-83. Epub 2012 May 17.

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

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August 2012

Botulinum toxin type A and B for the reduction of hypersalivation in children with neurological disorders: a focus on effectiveness and therapy adherence.

Neuropediatrics 2012 Feb 19;43(1):27-36. Epub 2012 Mar 19.

Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Campus Innenstadt, University of Munich, Germany.

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February 2012

Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritis.

Arch Neurol 2012 Jun;69(6):752-6

Division of Pediatric Neurology and Inherited Metabolic Disorders, Department of Pediatrics IV, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

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June 2012

Self-reported muscle pain in adolescents with migraine and tension-type headache.

Cephalalgia 2012 Feb 16;32(3):241-9. Epub 2012 Jan 16.

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

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February 2012

Protein aggregation in congenital myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):272-6

Department of Neuropathology, University Medical Center of Johannes Gutenberg University, Mainz, Germany.

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December 2011

Associations between stress and migraine and tension-type headache: results from a school-based study in adolescents from grammar schools in Germany.

Cephalalgia 2011 May 13;31(7):774-85. Epub 2011 Jan 13.

Institute of Social Paediatrics and Adolescent Medicine, Ludwig-Maximilians-University Munich, Heiglhofstrasse 63, Munich, Germany.

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May 2011

Associations of diet and lifestyle with headache in high-school students: results from a cross-sectional study.

Headache 2010 Jul 7;50(7):1104-14. Epub 2010 Jun 7.

Institute of Social Paediatrics and Adolescent Medicine, Ludwig-Maximilians-University, D-81377 Munich, Germany.

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July 2010

Myofascial trigger points in children with tension-type headache: a new diagnostic and therapeutic option.

J Child Neurol 2009 Apr;24(4):406-9

Department of Pediatric Neurology and Developmental Medicine, Dr von Haunersches Kinderspital, Ludwig-Maximilians-University Munich, 80337 Munich, Germany.

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April 2009