Arndt Rolfs

Arndt Rolfs

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Arndt Rolfs

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Authors:
Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Pastinen Arno Ruusalepp Eric E Schadt Simon Koplev Johan L M Björkegren Veronica Codoni Mete Civelek Nicholas L Smith David A Trégouët Ingrid E Christophersen Carolina Roselli Steven A Lubitz Patrick T Ellinor E Shyong Tai Jaspal S Kooner Norihiro Kato Jiang He Pim van der Harst Paul Elliott John C Chambers Fumihiko Takeuchi Andrew D Johnson Dharambir K Sanghera Olle Melander Christina Jern Daniel Strbian Israel Fernandez-Cadenas W T Longstreth Arndt Rolfs Jun Hata Daniel Woo Jonathan Rosand Guillaume Pare Jemma C Hopewell Danish Saleheen Kari Stefansson Bradford B Worrall Steven J Kittner Sudha Seshadri Myriam Fornage Hugh S Markus Joanna M M Howson Yoichiro Kamatani Stephanie Debette Martin Dichgans

Nat Genet 2019 Jul;51(7):1192-1193

Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, Germany.

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http://dx.doi.org/10.1038/s41588-019-0449-0DOI Listing
July 2019

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.

Int J Mol Sci 2019 Jun 21;20(12). Epub 2019 Jun 21.

Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel.

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http://dx.doi.org/10.3390/ijms20123033DOI Listing
June 2019

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Medicina (Kaunas) 2019 May 7;55(5). Epub 2019 May 7.

Institute of Clinical Medicine, Faculty of medicine, Vilnius University, Santariškių 2, 08406 Vilnius, Lithuania.

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http://dx.doi.org/10.3390/medicina55050122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571633PMC
May 2019

Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.

PLoS One 2018 1;13(11):e0206554. Epub 2018 Nov 1.

University of Maryland School of Medicine, Baltimore, MD, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0206554PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211695PMC
April 2019

Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice.

Mol Brain 2019 03 11;12(1):17. Epub 2019 Mar 11.

Albrecht-Kossel-Institute for Neuroregeneration, University Medical Center Rostock, Gehlsheimer Strasse 20, 18147, Rostock, Germany.

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http://dx.doi.org/10.1186/s13041-019-0440-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417209PMC
March 2019

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Mol Biol Rep 2019 Feb 2;46(1):271-285. Epub 2019 Feb 2.

Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1007/s11033-018-4469-0DOI Listing
February 2019

Improvement of impaired electrical activity in NPC1 mutant cortical neurons upon DHPG stimulation detected by micro-electrode array.

Brain Res 2018 09 16;1694:87-93. Epub 2018 May 16.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Gehlsheimer Straße 20, 18147 Rostock, Germany; Centre for Transdisciplinary Neuroscience Rostock, Rostock University Medical Center, Gehlsheimer Straße 20, 18147 Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2018.05.009DOI Listing
September 2018

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

J Hum Genet 2018 Sep 13;63(9):997-1001. Epub 2018 Jun 13.

Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.

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http://dx.doi.org/10.1038/s10038-018-0469-0DOI Listing
September 2018

Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease.

Am J Hematol 2018 09 9;93(9):E246-E248. Epub 2018 Aug 9.

Gaucher Unit, Shaare Zedek Medical Center, affiliated with Hadassah-Hebrew University Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajh.25205DOI Listing
September 2018

Glucosylsphingosine is a reliable response biomarker in Gaucher disease.

Am J Hematol 2018 06 15;93(6):E140-E142. Epub 2018 Mar 15.

Gaucher unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel.

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http://doi.wiley.com/10.1002/ajh.25074
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http://dx.doi.org/10.1002/ajh.25074DOI Listing
June 2018

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Authors:
Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Pastinen Arno Ruusalepp Eric E Schadt Simon Koplev Johan L M Björkegren Veronica Codoni Mete Civelek Nicholas L Smith David A Trégouët Ingrid E Christophersen Carolina Roselli Steven A Lubitz Patrick T Ellinor E Shyong Tai Jaspal S Kooner Norihiro Kato Jiang He Pim van der Harst Paul Elliott John C Chambers Fumihiko Takeuchi Andrew D Johnson Dharambir K Sanghera Olle Melander Christina Jern Daniel Strbian Israel Fernandez-Cadenas W T Longstreth Arndt Rolfs Jun Hata Daniel Woo Jonathan Rosand Guillaume Pare Jemma C Hopewell Danish Saleheen Kari Stefansson Bradford B Worrall Steven J Kittner Sudha Seshadri Myriam Fornage Hugh S Markus Joanna M M Howson Yoichiro Kamatani Stephanie Debette Martin Dichgans

Nat Genet 2018 04 12;50(4):524-537. Epub 2018 Mar 12.

Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, Germany.

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http://dx.doi.org/10.1038/s41588-018-0058-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968830PMC
April 2018

Unmet needs in human genomic variant interpretation.

Genet Med 2018 03 26;20(3):376-377. Epub 2017 Oct 26.

Centogene AG, Rostock, Germany.

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http://www.nature.com/doifinder/10.1038/gim.2017.187
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http://dx.doi.org/10.1038/gim.2017.187DOI Listing
March 2018

Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes.

J Neurol Sci 2018 03 12;386:56-63. Epub 2018 Jan 12.

Albrecht-Kossel-Institute for Neuroregeneration, School of Medicine University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany; Centre for Transdisciplinary Neuroscience Rostock, School of Medicine University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.01.015DOI Listing
March 2018

Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.

Int J Mol Sci 2018 Mar 24;19(4). Epub 2018 Mar 24.

Institute for Experimental Surgery, Rostock University Medical Center, Schillingallee 69a, 18057 Rostock, Germany.

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http://dx.doi.org/10.3390/ijms19040972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979582PMC
March 2018

Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice.

Sci Rep 2018 02 20;8(1):3318. Epub 2018 Feb 20.

Albrecht-Kossel-Institute for Neuroregeneration (AKos), University Medicine Rostock, Gehlsheimer Straße 20, D-18147, Rostock, Germany.

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http://www.nature.com/articles/s41598-018-21805-z
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http://dx.doi.org/10.1038/s41598-018-21805-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820268PMC
February 2018

Fluorescent probes for selective protein labeling in lysosomes: a case of α-galactosidase A.

FASEB J 2017 12 15;31(12):5258-5267. Epub 2017 Aug 15.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Rostock, Mecklenburg-Vorpommern, Germany; and

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http://www.fasebj.org/doi/10.1096/fj.201700058RRRR
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http://dx.doi.org/10.1096/fj.201700058RRRRDOI Listing
December 2017

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

J Vis Exp 2017 12 20(130). Epub 2017 Dec 20.

Albrecht-Kossel-Institute, University Rostock Medical Center; Centogene AG.

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http://dx.doi.org/10.3791/56550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755676PMC
December 2017

Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism.

Ophthalmic Genet 2017 Mar-Apr;38(2):194-196. Epub 2016 May 13.

j Department of Pediatric Ophthalmology and Adult Strabismus , Aravind Eye Hospital , Madurai , India.

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http://dx.doi.org/10.1080/13816810.2016.1183217DOI Listing
November 2017

ADAM23 promotes neuronal differentiation of human neural progenitor cells.

Cell Mol Biol Lett 2017 18;22:16. Epub 2017 Aug 18.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Gehlsheimer Straße 20, 18147 Rostock, Germany.

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http://dx.doi.org/10.1186/s11658-017-0045-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562998PMC
October 2017

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

BMC Med Genet 2017 10 25;18(1):119. Epub 2017 Oct 25.

Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s12881-017-0479-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657100PMC
October 2017

Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors.

Mol Cell Neurosci 2017 09 27;83:27-36. Epub 2017 Jun 27.

Albrecht-Kossel-Institute for Neuroregeneration (AKos), University Medicine Rostock, Gehlsheimer Straße 20, D-18147 Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2017.06.007DOI Listing
September 2017

Non-canonical pathway induced by Wnt3a regulates β-catenin via Pyk2 in differentiating human neural progenitor cells.

Biochem Biophys Res Commun 2017 09 8;491(1):40-46. Epub 2017 Jul 8.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2017.07.030DOI Listing
September 2017

Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke.

Stroke 2017 09 28;48(9):2361-2367. Epub 2017 Jul 28.

From the Stroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia (V.T.); Department of Neurology, Austin Health, Heidelberg, Victoria, Australia (V.T.); Center for Stroke Research and Department of Biostatistics and Clinical Epidemiology, Charité - University Medical Centre Berlin, Germany (U.G.); Department of Neurology (F.F., R.S., C.E.) and Division of Neuroradiology, Department of Radiology (C.E.), Medical University of Graz, Austria; Department of Neurology, The Adelaide and Meath Hospital, Incorporating the National Children's Hospital, Dublin, Republic of Ireland (D.J.H.M.); Department of Clinical Neurosciences, Royal Free Campus, UCL Institute of Neurology, London, United Kingdom (D.J.H.M.); Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Ireland (D.J.H.M.); Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock, Germany (A.-K.G., A.R.); Department of Neurology, University Medicine Greifswald, Ernst-Moritz-Arndt-University Greifswald, Germany (C.K., B.v.S.); Institut für Klinische Epidemiologie und Angewandte Biometrie (IKEaB), Tübingen, Germany (P.M.); Department of Clinical Sciences Neurology, Lund University, Sweden (B.N.); Wilhelms University of Muenster, Germany (E.B.R.); Department of Neurology, Justus Liebig University Giessen, Germany (C.T.); Department of Neurology, Helsinki University Central Hospital, Finland (J.P., T.T.); Clinical Neurosciences, University of Helsinki, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Sweden (T.T.); and Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.).

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http://dx.doi.org/10.1161/STROKEAHA.117.017406DOI Listing
September 2017

Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.

Orphanet J Rare Dis 2017 08 25;12(1):145. Epub 2017 Aug 25.

Albrecht-Kossel-Institute for Neuroregeneration (AKos), University Medicine Rostock, Gehlsheimer Straße 20, 18147, Rostock, Germany.

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http://dx.doi.org/10.1186/s13023-017-0697-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574080PMC
August 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Contribution of Established Stroke Risk Factors to the Burden of Stroke in Young Adults.

Stroke 2017 07 15;48(7):1744-1751. Epub 2017 Jun 15.

From the Institute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Germany (A.A.); Center for Stroke Research (U.G., B.S.) and Department of Biostatistics and Clinical Epidemiology (U.G.), Charité-Universitätsmedizin Berlin, Germany; Medical Faculty, Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Germany (A.R.); Department of Clinical Sciences, Neurology, Skane University Hospital, Lund University, Sweden (B.N.); and Department of Epidemiology and Health Monitoring, Robert Koch Institute, Berlin, Germany (M.A.B.).

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http://dx.doi.org/10.1161/STROKEAHA.117.016599DOI Listing
July 2017

Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.

Int Heart J 2017 May 12;58(3):454-458. Epub 2017 May 12.

2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.

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http://dx.doi.org/10.1536/ihj.16-361DOI Listing
May 2017

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Mol Genet Metab 2017 04 6;120(4):337-341. Epub 2017 Feb 6.

Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.003DOI Listing
April 2017

Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1.

Int J Mol Sci 2017 Apr 6;18(4). Epub 2017 Apr 6.

Institute of Anatomy, University of Rostock, 18057 Rostock, Germany.

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http://dx.doi.org/10.3390/ijms18040777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412361PMC
April 2017

Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons.

Brain Res 2017 02 5;1657:52-61. Epub 2016 Dec 5.

Albrecht-Kossel-Institute for Neuroregeneration (AKos), University Medicine Rostock, Gehlsheimer Straße 20, 18147 Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2016.11.031DOI Listing
February 2017

Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study.

Stroke 2017 01 29;48(1):30-35. Epub 2016 Nov 29.

From the Department of Neurology, Medical Campus Lake Constance, Klinikum Friedrichshafen, Germany (R.H.); Department of Neurology, University of Ulm, Ulm, Germany (R.H.); Department for Biostatistics and Clinical Epidemiology (U.G.) and Center for Stroke Research (U.G.), Charité-Universitätsmedizin Berlin, Germany; Department of Internal Medicine II, Katharinen Hospital, Unna, Germany (F.W.); Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia (V.T.); Department of Neurology, Justus Liebig University Giessen, Germany (C.T.); Department of Neurology (C.E., F.F.) and Clinical Division of Neuroradiology, Vascular and Interventional Radiology, Department of Radiology (C.E.), Medical University of Graz, Austria; Department of Neurology, University of Mannheim, Germany (M.W., M.G.H.); Department of Neurology and Stroke Service, The Adelaide and Meath Hospital, incorporating the National Children's Hospital, Dublin, Ireland (D.J.H.M.); Department of Clinical Neurosciences, Royal Free Campus, UCL Institute of Neurology, London, United Kingdom (D.J.H.M.); Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Ireland (D.J.H.M.); Department of Neurology, Helsinki University Central Hospital, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Sweden (T.T.); Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.); Department of Neurology, University Medicine Greifswald, Ernst Moritz Arndt University of Greifswald, Germany (C.K., B.v.S.); Department of Epidemiology and Biometrics, University of Tübingen, Germany (P.M.); Department of Neurology, New York University School of Medicine (E.K.); Department of Clinical Sciences, Section of Neurology, Lund University, Sweden (B.N.); and Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Germany (A.R.).

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http://dx.doi.org/10.1161/STROKEAHA.116.013620DOI Listing
January 2017

A comprehensive global genotype-phenotype database for rare diseases.

Mol Genet Genomic Med 2017 Jan 23;5(1):66-75. Epub 2016 Nov 23.

Centogene AGRostockGermany; Albrecht-Kossel-Institute for NeuroregenerationMedical University RostockRostockGermany.

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http://dx.doi.org/10.1002/mgg3.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210PMC
January 2017

D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic.

Mult Scler 2016 10 18;22(11):1502-1505. Epub 2016 Mar 18.

Department of Neurology, Alfried Krupp Hospital, Essen, Germany

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http://dx.doi.org/10.1177/1352458516638747DOI Listing
October 2016

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

Neurol Genet 2016 Oct 13;2(5):e106. Epub 2016 Sep 13.

Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022844PMC
October 2016

Phenotypic ASCO Characterisation of Young Patients with Ischemic Stroke in the Prospective Multicentre Observational sifap1 Study.

Cerebrovasc Dis 2015 25;40(3-4):129-35. Epub 2015 Jul 25.

Department of Neurology, Universitx00E4;tsmedizin Mannheim, University of Heidelberg, Mannheim, Germany.

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https://www.karger.com/Article/FullText/434760
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http://dx.doi.org/10.1159/000434760DOI Listing
August 2016

Allgrove syndrome with prominent neurological symptoms. Case Report.

Neuro Endocrinol Lett 2016 Jul;37(3):184-188

Centogene AG, Rostock, Germany.

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July 2016

Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.

Congenit Anom (Kyoto) 2016 May;56(3):138-140

Department of Basic Sciences, Icesi University, Cali, Colombia.

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http://dx.doi.org/10.1111/cga.12146DOI Listing
May 2016

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.

PLoS One 2015 6;10(7):e0131228. Epub 2015 Jul 6.

Centogene AG, Rostock, Germany; Albrecht-Kossel-Institute, University of Rostock, Rostock, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131228PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492791PMC
April 2016

Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.

Stroke 2016 Feb 5;47(2):307-16. Epub 2016 Jan 5.

From the Veterans Affairs Maryland Health Care System, Baltimore, MD (Y.-C.C., S.J.K., J.W.C., B.D.M.); University of Maryland School of Medicine, Baltimore (Y.-C.C., H.X., S.J.K., J.W.C., J.R.O., B.D.M.); The University of Gothenburg, Gothenburg, Sweden (T.M.S., C.J.); University of Rostock, Rostock, Germany (A.-K.G., A. Rolfs); University of Nottingham Malaysia Campus, Selangor Darul Ehsa, Malaysia (W.K.H.); University of Cambridge, Cambridge, UK (M.T., J.D., S.B., H.S.M., S.D., D.S.); Institut Pasteur de Lille, F-59000 Lille, France (P.A.); University of Newcastle, Australia (E.G.H.); Ludwig-Maximilians-Universität, Munich, Germany (R.M., K.S., M.D.); Wellcome Trust Sanger Institute, Cambridge, UK (J.D.); Center for Non-Communicable Diseases, Karachi, Pakistan (A. Rasheed, D.S.); University of Pennsylvania (W.Z., D.S.); Basel University Hospital, Switzerland (S.E.); Heidelberg University Hospital, Germany (C.G.-G.); Centre d'Étude du Polymorphisme Humain, Paris, France (Y.K.); RIKEN Center for Integrative Medical Sciences, Yokohama, Japan (Y.K.); National Genotyping Center, Evry, France (M.L.); Genome Quebec, McGill University, Montreal, Canada (M.L.); Lille University Hospital, France (D.L., S.D.); KU Leuven - University of Leuven, Leuven, Belgium (V.T.); Vesalius Research Center, VIB, Leuven, Belgium (V.T.); University Hospitals Leuven, Leuven, Belgium (V.T.); Helsinki University Central Hospital, Helsinki, Finland (T.M.M., T.T.); Università degli Studi di Brescia, Brescia, Italy (A. Pezzini); Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy (E.A.P., G.B.B.); University of Lund, Sweden (B.N.); University of Oxford, John Radcliffe Hospital (P.M.R.); University of Edinburgh, Edinburgh, UK (C.S.); Jagiellonian University Medical College, Krakow, Poland (A.S.); Lund University, Lund, Sweden (A.L.); Skåne University Hospital, Lund, Sweden (A.L.); University of Glasgow, Glasgow, UK (M.R.W.); University of Adelaide, Australia (J.J.); Mount Sinai Hos

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http://dx.doi.org/10.1161/STROKEAHA.115.011328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729659PMC
February 2016

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Hum Mutat 2016 Jan 27;37(1):43-51. Epub 2015 Oct 27.

Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Germany.

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http://dx.doi.org/10.1002/humu.22910DOI Listing
January 2016

Cyclodextrin Alters GABAergic Input to CA1 Pyramidal Cells in Wild-Type But Not in NPC1-Deficient Mice.

Biores Open Access 2015 1;4(1):358-62. Epub 2015 Aug 1.

Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock , Rostock, Germany .

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http://dx.doi.org/10.1089/biores.2015.0023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556338PMC
September 2015

Family History in Young Patients With Stroke.

Stroke 2015 Jul 2;46(7):1975-8. Epub 2015 Jun 2.

From the Department of Neurosciences, Experimental Neurology, KU Leuven, University of Leuven, Leuven, Belgium (V.T.); Department of Neurology, VIB-Vesalius Research Center, University Hospitals Leuven, Leuven, Belgium (V.T.); Center for Stroke Research (U.G.) and Department for Biostatistics and Clinical Epidemiology (U.G.), Charité-University Medical Centre Berlin, Berlin, Germany; Institute for Stroke and Dementia Research, Klinikum der Universität München, Munich, Germany (M.D.); The German Center for Neurodegenerative Diseases (DZNE, Munich), Munich, Germany (M.D.); Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (M.D.); Department of Neurology, Medical University of Graz, Graz, Austria (C.E., F.F., R.S.); Albrecht-Kossel-Institute for Neuroregeneration (AKos), Centre for Mental Health Disease (A.-K.G., A.R.) and Institute of Medical Psychology and Medical Sociology Medical Faculty (P.K.), University of Rostock, Rostock, Germany; Department of Neurology, University Medicine Greifswald, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany (C.K., B.v.S.); Department of Neurology, New York University School of Medicine (E.K.); Institut für Klinische Epidemiologie und Angewandte Biometrie (IKEaB), Tübingen, Germany (P.M.); Department of Clinical Sciences Neurology, Lund University, Lund, Sweden (B.N.); Wilhelms University of Muenster, Muenster, Germany (E.B.R.); Stroke Prevention Research Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom (P.M.R.); Department of Neurology, Justus Liebig University Giessen, Giessen, Germany (C.T.); and Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland (T.T.).

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http://dx.doi.org/10.1161/STROKEAHA.115.009341DOI Listing
July 2015

Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event.

Stroke 2015 Jun 21;46(6):1548-53. Epub 2015 Apr 21.

From the Department of Neurology (F.F., C.E., R.S., S.R.) and Division of Neuroradiology, Department of Radiology (C.E.), Medical University of Graz, Graz, Austria; Department of Biostatistics and Clinical Epidemiology, Charité-Universitätsmedizin, Berlin, Germany (U.G.); Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany (A.-K.G., A.R.); Department of Neurology, Universitätsmedizin Mannheim, University of Heidelberg, Mannheim, Germany (M.G.H.); Department of Neurology, Klinikum Friedrichshafen, Friedrichshafen, Germany (R.H.); Department of Neurology, Jüdisches Krankenhaus, Berlin, Germany (G.J.J.); Center for Stroke Research Berlin (CSB), Charité Universitätsmedizin, Berlin, Germany (G.J.J.); Justus Liebig University, Giessen, Germany (M.K., C.T.); Department of Neurology, University Medicine Greifswald, Greifswald, Germany (C.K., B.v.S.); Institute for Biostatistics, University of Tübingen, Tübingen, Germany (P.M.); Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden (T.T.); Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.); Department of Neurology, University Hospitals Leuven, Leuven, Belgium (V.T.); Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium (V.T.); VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium (V.T.); and Department of Clinical Neuroscience, Lund University Hospital, Lund, Sweden (B.N.).

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http://stroke.ahajournals.org/content/46/6/1548.full.pdf
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http://dx.doi.org/10.1161/STROKEAHA.114.008548DOI Listing
June 2015

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Orphanet J Rare Dis 2015 Jun 17;10:78. Epub 2015 Jun 17.

Albrecht-Kossel-Institute for Neuroregeneration, Medical University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany.

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http://dx.doi.org/10.1186/s13023-015-0274-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479076PMC
June 2015

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

J Mol Diagn 2015 Mar 31;17(2):162-70. Epub 2014 Dec 31.

Centogene AG, Rostock, Germany; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Germany.

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http://dx.doi.org/10.1016/j.jmoldx.2014.11.004DOI Listing
March 2015

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Nat Genet 2015 Jan 24;47(1):78-83. Epub 2014 Nov 24.

1] INSERM U744, Lille, France. [2] Institut Pasteur de Lille, Lille, France. [3] Université Lille Nord de France, Lille, France.

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http://dx.doi.org/10.1038/ng.3154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824623PMC
January 2015

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

Eur J Paediatr Neurol 2015 Jan 7;19(1):78-86. Epub 2014 Aug 7.

"Carol Davila" University of Medicine Bucharest, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Discipline Pediatric Neurology, Romania; Pediatric Neurology Clinic, "Alexandru Obregia" Clinical Psychiatric Hospital, Şos. Berceni 10-12, Sector 4, Bucharest, Romania. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.07.008DOI Listing
January 2015

Defects in the retina of Niemann-pick type C 1 mutant mice.

BMC Neurosci 2014 Nov 29;15:126. Epub 2014 Nov 29.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Gehlsheimer Strasse 20, D-18147, Rostock, Germany.

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http://dx.doi.org/10.1186/s12868-014-0126-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267119PMC
November 2014

Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice.

Histol Histopathol 2014 Sep 26;29(9):1185-99. Epub 2014 Mar 26.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Rostock, Germany.

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http://dx.doi.org/10.14670/HH-29.1185DOI Listing
September 2014

Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice.

Glia 2014 Jul 19;62(7):1024-40. Epub 2014 Mar 19.

Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, University of Rostock, Rostock, Germany.

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http://dx.doi.org/10.1002/glia.22659DOI Listing
July 2014

HES5 is a key mediator of Wnt-3a-induced neuronal differentiation.

Stem Cells Dev 2014 Jun 25;23(12):1328-39. Epub 2014 Mar 25.

Albrecht-Kossel-Institute for Neuroregeneration (AKos), University of Rostock , Rostock, Germany .

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http://dx.doi.org/10.1089/scd.2013.0557DOI Listing
June 2014

Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.

J Clin Neurol 2014 Apr 23;10(2):108-18. Epub 2014 Apr 23.

Department of Neurology, Department of Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.3988/jcn.2014.10.2.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4017013PMC
April 2014

The novel arylindolylmaleimide PDA-66 displays pronounced antiproliferative effects in acute lymphoblastic leukemia cells.

BMC Cancer 2014 Feb 6;14:71. Epub 2014 Feb 6.

Department of Hematology/Oncology/Palliative Medicine, Division of Medicine, University of Rostock, Ernst-Heydemann-Str, 6, Rostock 18057, Germany.

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http://dx.doi.org/10.1186/1471-2407-14-71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922486PMC
February 2014