Ingo Kurth

Ingo Kurth

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Ingo Kurth

Ingo Kurth

Publications by authors named "Ingo Kurth"

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Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Exp Neurol 2019 Oct 24;320:112958. Epub 2019 May 24.

John van Geest Centre for Brain Repair, University of Cambridge, ED Adrian Building, Forvie Site, Robinson Way, Cambridge CB2 0PY, UK; Babraham Institute, Babraham Research Campus, Babraham, Cambridge CB22 3AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2019.112958DOI Listing
October 2019

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.

Front Neurosci 2019 3;13:918. Epub 2019 Sep 3.

Department of Neurology, Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT, United States.

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http://dx.doi.org/10.3389/fnins.2019.00918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733892PMC
September 2019

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.

Eur J Med Genet 2019 Jul 14;62(7):103671. Epub 2019 May 14.

Institute of Human Genetics, University Hospital, Technical University Aachen (RWTH), Aachen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2019.103671DOI Listing
July 2019

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.

Cell Mol Life Sci 2019 Apr 21;76(7):1433-1445. Epub 2019 Jan 21.

Leibniz Institut für Alternsforschung-Fritz Lipmann Institut, Beutenbergstr. 11, 07745, Jena, Germany.

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http://link.springer.com/10.1007/s00018-019-03010-x
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http://dx.doi.org/10.1007/s00018-019-03010-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420906PMC
April 2019

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Clin Epigenetics 2019 02 15;11(1):30. Epub 2019 Feb 15.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, D-52074, Aachen, Germany.

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http://dx.doi.org/10.1186/s13148-019-0629-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377752PMC
February 2019

[Neuropathic pain syndromes and channelopathies].

Internist (Berl) 2019 Jan;60(1):90-97

Institut für Humangenetik, Uniklinik RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Deutschland.

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http://dx.doi.org/10.1007/s00108-018-0535-xDOI Listing
January 2019

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation.

Neuromuscul Disord 2018 12 29;28(12):1006-1011. Epub 2018 Aug 29.

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

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http://dx.doi.org/10.1016/j.nmd.2018.08.009DOI Listing
December 2018

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Mol Genet Genomic Med 2018 11 11;6(6):1225-1228. Epub 2018 Aug 11.

Institute of Human Genetics, University of Münster, Münster, Germany.

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http://doi.wiley.com/10.1002/mgg3.426
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http://dx.doi.org/10.1002/mgg3.426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305658PMC
November 2018

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.

BMC Nephrol 2018 10 20;19(1):278. Epub 2018 Oct 20.

Institute of Human Genetics, University Hospital, Technical University RWTH Aachen, Pauwelsstr. 30, D-52074, Aachen, Germany.

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https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882
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http://dx.doi.org/10.1186/s12882-018-1080-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196009PMC
October 2018

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Cell Rep 2018 05;23(7):2026-2038

Laboratory of ER stress and Inflammation, VIB Center for Inflammation Research, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.04.071DOI Listing
May 2018

Hereditary Neuropathies.

Dtsch Arztebl Int 2018 02;115(6):91-97

Institute of Human Genetics, Uniklinik RWTH Aachen; Department of Neurology, Uniklinik RWTH Aachen; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, Uniklinik RWTH Aachen; Department of Neuropediatrics, Developmental Medicine and Epileptology, Children's Medical Center; Giessen, University of Giessen; Institute of Neuropathology, Uniklinik RWTH Aachen.

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https://www.aerzteblatt.de/10.3238/arztebl.2018.0091
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http://dx.doi.org/10.3238/arztebl.2018.0091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832893PMC
February 2018

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Pediatr Nephrol 2017 10 15;32(10):1989-1992. Epub 2017 Jun 15.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.

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http://dx.doi.org/10.1007/s00467-017-3710-8DOI Listing
October 2017

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Am J Med Genet B Neuropsychiatr Genet 2017 Oct 2;174(7):732-739. Epub 2017 Aug 2.

Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32570DOI Listing
October 2017

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Pediatr Neurol 2017 Sep 29;74:92-96. Epub 2017 May 29.

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.017DOI Listing
September 2017

Pain insensitivity: distal S6-segment mutations in Na1.9 emerge as critical hotspot.

Neurogenetics 2017 07 13;18(3):179-181. Epub 2017 Mar 13.

Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.

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http://dx.doi.org/10.1007/s10048-017-0513-9DOI Listing
July 2017

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.

Eur J Cardiothorac Surg 2017 Jul;52(1):156-162

Institute of Human Genetics, Friedrich-Schiller University Hospital Jena, Jena, Germany.

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http://dx.doi.org/10.1093/ejcts/ezx065DOI Listing
July 2017

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

Mol Cell Probes 2017 04 14;32:18-23. Epub 2016 Nov 14.

Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.

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http://dx.doi.org/10.1016/j.mcp.2016.11.002DOI Listing
April 2017

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Neuropediatrics 2017 Apr 26;48(2):111-114. Epub 2016 Dec 26.

Department of Pediatrics, RWTH University Hospital Aachen, Aachen, Germany.

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http://dx.doi.org/10.1055/s-0036-1597611DOI Listing
April 2017

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.

Indian J Pediatr 2017 04 3;84(4):332-333. Epub 2017 Jan 3.

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

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http://dx.doi.org/10.1007/s12098-016-2284-yDOI Listing
April 2017

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous variant: a case report.

Transl Neurodegener 2016 27;5:23. Epub 2016 Dec 27.

Hans Berger Department of Neurology, Jena University Hospital, Friedrich Schiller University Jena, Jena, 07747 Germany.

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http://translationalneurodegeneration.biomedcentral.com/arti
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http://dx.doi.org/10.1186/s40035-016-0069-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5187649PMC
December 2016

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

Am J Med Genet B Neuropsychiatr Genet 2016 09 17;171(6):875-8. Epub 2016 May 17.

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

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http://dx.doi.org/10.1002/ajmg.b.32458DOI Listing
September 2016

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

Gene 2016 Sep 31;590(1):1-4. Epub 2016 May 31.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.05.040DOI Listing
September 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Regulation of endoplasmic reticulum turnover by selective autophagy.

Nature 2015 Jun 3;522(7556):354-8. Epub 2015 Jun 3.

1] Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany [2] Buchmann Institute for Molecular Life Sciences, Goethe University Frankfurt, Riedberg Campus, Max-von-Laue-Straße 15, 60438 Frankfurt am Main, Germany [3] Institute of Immunology, School of Medicine University of Split, Mestrovicevo setaliste bb, 21 000 Split, Croatia.

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http://dx.doi.org/10.1038/nature14498DOI Listing
June 2015

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Eur J Hum Genet 2015 May 13;23(5):561-3. Epub 2014 Aug 13.

Institute of Human Genetics, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402639PMC
May 2015

Membrane-shaping disorders: a common pathway in axon degeneration.

Brain 2014 Dec 3;137(Pt 12):3109-21. Epub 2014 Oct 3.

Institute of Human Genetics, Jena University Hospital, 07743 Jena, Germany

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http://dx.doi.org/10.1093/brain/awu287DOI Listing
December 2014

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

J Invest Dermatol 2014 Aug 27;134(8):2146-2153. Epub 2014 Feb 27.

Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153694
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http://dx.doi.org/10.1038/jid.2014.119DOI Listing
August 2014

Renal intercalated cells are rather energized by a proton than a sodium pump.

Proc Natl Acad Sci U S A 2013 May 22;110(19):7928-33. Epub 2013 Apr 22.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche de Santé 872, Centre de Recherche Paris Centre de Recherche des Cordeliers, Faculté de Médecine Paris Descartes, Sorbonne Paris Cité, F-75006 Paris, France.

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http://dx.doi.org/10.1073/pnas.1221496110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651478PMC
May 2013

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

Eur J Hum Genet 2012 Jun 18;20(6):705-8. Epub 2012 Jan 18.

Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355260PMC
June 2012

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

Vasc Med 2012 Feb 27;17(1):44-9. Epub 2011 Oct 27.

Vascular Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1177/1358863X11422584DOI Listing
February 2012

Unique phenotype in a patient with CHARGE syndrome.

Int J Pediatr Endocrinol 2011 Oct 13;2011:11. Epub 2011 Oct 13.

State University of New York Downstate Medical Center, Children's Hospital at Downstate, Department of Pediatrics, Division of Pediatric Endocrinology, Brooklyn, NY 11203 USA.

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http://dx.doi.org/10.1186/1687-9856-2011-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3216247PMC
October 2011

Missense exchanges in the TTBK2 gene mutated in SCA11.

J Neurol 2009 Nov 17;256(11):1856-9. Epub 2009 Jun 17.

Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1007/s00415-009-5209-0DOI Listing
November 2009

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.

Histochem Cell Biol 2009 Oct 21;132(4):405-12. Epub 2009 Jun 21.

Institute for Medical Microbiology, Virology and Hygiene, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany.

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http://dx.doi.org/10.1007/s00418-009-0614-0DOI Listing
October 2009

Rdh12 activity and effects on retinoid processing in the murine retina.

J Biol Chem 2009 Aug 8;284(32):21468-77. Epub 2009 Jun 8.

Departments of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA.

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http://dx.doi.org/10.1074/jbc.M109.020966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2755871PMC
August 2009

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Am J Hum Genet 2008 Oct 2;83(4):511-9. Epub 2008 Oct 2.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561938PMC
October 2008

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

J Biol Chem 2006 Nov 5;281(44):33497-504. Epub 2006 Sep 5.

Institute of Medical Microbiology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1074/jbc.M606975200DOI Listing
November 2006