Publications by authors named "Matias Wagner"

58Publications

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

Gene 2020 Oct 22:145260. Epub 2020 Oct 22.

Division of Pediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2020.145260DOI Listing
October 2020

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.

Neurol Genet 2020 Dec 13;6(6):e525. Epub 2020 Oct 13.

Friedrich Baur Institute at the Department of Neurology (F.R., T.K.), University Hospital, LMU Munich; Institute of Human Genetics (K.M.R., T.M., M.W.), Klinikum rechts der Isar, Technical University of Munich; Department of Nephrology (K.M.R.), Klinikum rechts der Isar, Technical University of Munich; Department of Ophthalmology (L.F.K.), Ludwig-Maximilians-University, Munich; Department of Pediatrics (G.G.), Division for Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg; Institute of Human Genetics (T.M., M.W.), Helmholtz Zentrum München, Neuherberg; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster of Systems Neurology (SyNergy) (T.K.), Munich; and Institute of Neurogenomics (M.W.), Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577526PMC
December 2020

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

Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730].

EBioMedicine 2020 Nov 21;61:103072. Epub 2020 Oct 21.

Friedrich-Baur-Institute, Department of Neurology, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.103072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581886PMC
November 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

Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2020 08 22;21(5-6):389-395. Epub 2020 Jun 22.

Department of Psychiatry and Psychotherapy, School of Medicine, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.1080/21678421.2020.1779302DOI Listing
August 2020

Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex.

Gene 2020 Aug 29;753:144815. Epub 2020 May 29.

Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144815DOI Listing
August 2020

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Gene 2020 Jul 25;749:144709. Epub 2020 Apr 25.

Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.

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http://dx.doi.org/10.1016/j.gene.2020.144709DOI Listing
July 2020

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

EBioMedicine 2020 Apr 16;54:102730. Epub 2020 Apr 16.

Friedrich-Baur-Institute, Department of Neurology, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.102730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163308PMC
April 2020

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

Gene 2020 Jun 14;742:144542. Epub 2020 Mar 14.

Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2020.144542DOI Listing
June 2020

Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.

Ann Clin Transl Neurol 2020 03 27;7(3):390-396. Epub 2020 Feb 27.

Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany.

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http://dx.doi.org/10.1002/acn3.50992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086002PMC
March 2020

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

J Clin Neurosci 2020 Feb 17;72:31-38. Epub 2020 Jan 17.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig-Maximilian-University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, Germany; Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2020.01.041DOI Listing
February 2020

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 01 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493PMC
January 2020

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.

Genet Med 2020 03 22;22(3):654-655. Epub 2019 Oct 22.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/s41436-019-0677-9DOI Listing
March 2020

Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.

Ann Clin Transl Neurol 2019 11 30;6(11):2317-2322. Epub 2019 Sep 30.

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

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http://dx.doi.org/10.1002/acn3.50895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856628PMC
November 2019

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.

Neurol Genet 2019 Aug 25;5(4):e346. Epub 2019 Jun 25.

Department of Neurology (M.K., I.M., F.Z.), Medical University of Vienna, Austria; Institute of Human Genetics (M.K., T.M., M.W.), Technical University Munich; Institute of Human Genetics (G.E., T.M., M.W.), Helmholtz Zentrum München, Neuherberg, Germany; Department of Neurology (T.F.), Karl Landsteiner University of Health Sciences, Tulln, Austria; and Institute of Neurogenomics (M.W.), Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659132PMC
August 2019

Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.

Neuropediatrics 2019 12 24;50(6):382-386. Epub 2019 Jul 24.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1055/s-0039-1693150DOI Listing
December 2019

Biallelic mutations in cause developmental and epileptic encephalopathy.

Ann Clin Transl Neurol 2019 May 11;6(5):968-973. Epub 2019 Apr 11.

Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital Medical Faculty Heinrich-Heine-University Düsseldorf Düsseldorf Germany.

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http://dx.doi.org/10.1002/acn3.768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530525PMC
May 2019

[Exome diagnostics in neurology].

Nervenarzt 2019 Feb;90(2):131-137

Institut für Neurogenomik, Helmholtz Zentrum München, München, Deutschland.

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http://link.springer.com/10.1007/s00115-018-0667-1
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http://dx.doi.org/10.1007/s00115-018-0667-1DOI Listing
February 2019

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.

Mov Disord 2018 10 4;33(10):1665-1666. Epub 2018 Oct 4.

Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.

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http://doi.wiley.com/10.1002/mds.27481
Publisher Site
http://dx.doi.org/10.1002/mds.27481DOI Listing
October 2018

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay.

Neuropediatrics 2018 12 10;49(6):401-404. Epub 2018 Sep 10.

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0038-1669926DOI Listing
December 2018

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia.

Neuropediatrics 2018 10 18;49(5):356. Epub 2018 Jun 18.

Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1055/s-0038-1661343DOI Listing
October 2018

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.

Gene 2018 Jul 12;663:110-114. Epub 2018 Apr 12.

Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2018.04.027DOI Listing
July 2018

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

Gene 2018 Apr 31;649:23-26. Epub 2018 Jan 31.

Dr. v. Hauner Children's Hospital, Pediatric Nephrology, Ludwig-Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1016/j.gene.2018.01.060DOI Listing
April 2018

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Neuropediatrics 2018 02 15;49(1):59-62. Epub 2017 Sep 15.

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

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http://dx.doi.org/10.1055/s-0037-1606370DOI Listing
February 2018

Presymptomatic late-onset Pompe disease identified by the dried blood spot test.

Neuromuscul Disord 2013 Jan 10;23(1):89-92. Epub 2012 Oct 10.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2012.09.004DOI Listing
January 2013