Publications by authors named "Saskia B Wortmann"

91Publications

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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ebiom.2020.103072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581886PMC
November 2020

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Genet Med 2020 Oct 7. Epub 2020 Oct 7.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-00979-wDOI Listing
October 2020

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.

Diagnostics (Basel) 2020 Aug 24;10(9). Epub 2020 Aug 24.

Austrian Newborn Screening, Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/diagnostics10090626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555675PMC
August 2020

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

Orphanet J Rare Dis 2020 08 24;15(1):218. Epub 2020 Aug 24.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre- University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-020-01503-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446198PMC
August 2020

Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID-19.

Acta Paediatr 2020 Jul 30. Epub 2020 Jul 30.

General Paediatrics, University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/apa.15507DOI Listing
July 2020

Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).

JIMD Rep 2020 May 25;53(1):10-11. Epub 2020 Mar 25.

University Children's Hospital, Paracelsus Medical University Salzburg Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203648PMC
May 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:

View Article

Download full-text PDF

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

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Am J Hum Genet 2020 02 30;106(2):256-263. Epub 2020 Jan 30.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010975PMC
February 2020

Mutation of the Gene as the Cause of a Severe Hyperkinetic Movement Disorder.

Mov Disord Clin Pract 2020 Jan 7;7(1):88-90. Epub 2019 Nov 7.

Department of Neurology University of Ulm Ulm Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962679PMC
January 2020

CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.

Biochim Biophys Acta Gen Subj 2020 04 7;1864(4):129512. Epub 2020 Jan 7.

Intercollegiate Faculty of Biotechnology, University of Gdansk, Poland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbagen.2020.129512DOI Listing
April 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:

View Article

Download full-text PDF

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

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Am J Hum Genet 2020 01 19;106(1):92-101. Epub 2019 Dec 19.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042492PMC
January 2020

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.

View Article

Download full-text PDF

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

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.

J Inherit Metab Dis 2019 05 20;42(3):438-450. Epub 2019 Mar 20.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jimd.12072
Publisher Site
http://dx.doi.org/10.1002/jimd.12072DOI Listing
May 2019

Choline-related-inherited metabolic diseases-A mini review.

J Inherit Metab Dis 2019 03 25;42(2):237-242. Epub 2019 Jan 25.

University Childrens Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jimd.12011
Publisher Site
http://dx.doi.org/10.1002/jimd.12011DOI Listing
March 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41467-018-06014-6
Publisher Site
http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Orphanet J Rare Dis 2018 07 20;13(1):122. Epub 2018 Jul 20.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0875-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800PMC
July 2018

Molecular structural diversity of mitochondrial cardiolipins.

Proc Natl Acad Sci U S A 2018 04 4;115(16):4158-4163. Epub 2018 Apr 4.

Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1719407115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910844PMC
April 2018

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.

J Inherit Metab Dis 2018 05 25;41(3):525-532. Epub 2018 Jan 25.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0133-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959960PMC
May 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

J Med Genet 2018 01 15;55(1):39-47. Epub 2017 Sep 15.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-104622DOI Listing
January 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.

View Article

Download full-text PDF

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

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Neuropediatrics 2017 08 9;48(4):309-314. Epub 2017 Jun 9.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1603776DOI Listing
August 2017

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

Neuropediatrics 2017 10 15;48(5):382-384. Epub 2017 May 15.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1602833
Publisher Site
http://dx.doi.org/10.1055/s-0037-1602833DOI Listing
October 2017

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Brain 2017 02 19;140(2):e11. Epub 2016 Dec 19.

Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww303DOI Listing
February 2017

Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome.

J Child Neurol 2016 09 26;31(10):1220-6. Epub 2016 May 26.

Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, Netherlands Department of Paediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073816650037DOI Listing
September 2016

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

J Inherit Metab Dis 2015 May 4;38(3):437-43. Epub 2015 Mar 4.

Department of Pediatrics, Radboudumc, Nijmegen Centre for Mitochondrial Disorders (NCMD), 774 Translational Metabolic Laboratory, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9823-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432107PMC
May 2015

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

Neuromuscul Disord 2015 Mar 13;25(3):262-7. Epub 2014 Nov 13.

Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.11.002DOI Listing
March 2015

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

J Inherit Metab Dis 2015 May 11;38(3):477-82. Epub 2014 Oct 11.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9773-9DOI Listing
May 2015

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

J Inherit Metab Dis 2015 Jan 2;38(1):99-110. Epub 2014 Sep 2.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9759-7DOI Listing
January 2015

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/ejhg.2014.80
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

JIMD Rep 2014 23;16:1-6. Epub 2014 Apr 23.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221300PMC
November 2014

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1007/s10545-012-9579-6
Publisher Site
http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

J Neurol Sci 2013 Mar 21;326(1-2):24-8. Epub 2013 Jan 21.

Laboratory of Clinical Chemistry and Hematology, St. Elisabeth Hospital, Tilburg, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2013.01.004DOI Listing
March 2013

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9580-0DOI Listing
November 2013

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Mitochondrion 2013 Jan 17;13(1):15-24. Epub 2012 Nov 17.

Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Geert Grooteplein 10, 6500 HB, P.O. Box 9101 Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2012.11.002DOI Listing
January 2013

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Eur J Med Genet 2012 Oct 7;55(10):552-6. Epub 2012 Jul 7.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease, Radboud University Medical Centre, PO Box 9101, Huispost 804, Postbus 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.06.002DOI Listing
October 2012

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.08.021DOI Listing
December 2011

The 3-methylglutaconic acidurias: what's new?

J Inherit Metab Dis 2012 Jan 30;35(1):13-22. Epub 2010 Sep 30.

833 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Institute of Genetic and Metabolic Disease (IGMD), Radboud University Nijmegen Medical Centre, P.O Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10545-010-9210
Web Search
http://link.springer.com/10.1007/s10545-010-9210-7
Publisher Site
http://dx.doi.org/10.1007/s10545-010-9210-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249181PMC
January 2012

Mitochondrial energy production correlates with the age-related BMI.

Pediatr Res 2009 Jan;65(1):103-8

Department of Pediatrics, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1203/PDR.0b013e31818d1c8aDOI Listing
January 2009

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain 2009 Jan 16;132(Pt 1):136-46. Epub 2008 Nov 16.

Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awn296DOI Listing
January 2009

Dimerization of the cytokine receptors gp130 and LIFR analysed in single cells.

J Cell Sci 2005 Nov;118(Pt 21):5129-40

Institut für Biochemie, Universitätsklinikum RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/jcs.02628DOI Listing
November 2005

Long term association of the cytokine receptor gp130 and the Janus kinase Jak1 revealed by FRAP analysis.

J Biol Chem 2003 Oct 23;278(40):39205-13. Epub 2003 Jul 23.

Institut für Biochemie, Universitätsklinikum RWTH Aachen, Pauwelsstrasse 30, 52057 Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M303347200DOI Listing
October 2003