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Ana Westenberger
Researcher at University of Lübeck
Publications - 86
Citations - 2959
Ana Westenberger is an academic researcher from University of Lübeck. The author has contributed to research in topics: Dystonia & Medicine. The author has an hindex of 19, co-authored 66 publications receiving 2188 citations. Previous affiliations of Ana Westenberger include University of Hamburg.
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Journal ArticleDOI
Genetics of Parkinson’s Disease
Christine Klein,Ana Westenberger +1 more
TL;DR: This article will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.
Journal ArticleDOI
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Annika Keller,Annika Keller,Annika Keller,Ana Westenberger,María Jesús Sobrido,María García-Murias,Aloysius Domingo,Renee L. Sears,R. R. Lemos,Andrés Ordóñez-Ugalde,Gaël Nicolas,José Eriton Gomes da Cunha,Elisabeth J. Rushing,Michael Hugelshofer,Moritz C. Wurnig,Andres Kaech,Regina Reimann,Katja Lohmann,Valerija Dobricic,Angel Carracedo,Igor Petrović,Janis M. Miyasaki,Irina Abakumova,Maarja Mäe,Maarja Mäe,Elisabeth Raschperger,Elisabeth Raschperger,Mayana Zatz,Katja Zschiedrich,Jörg Klepper,Elizabeth Spiteri,Elizabeth Spiteri,J.M. Prieto,I. Navas,Michael Preuss,Carmen Dering,Milena Jankovic,Martin Paucar,Per Svenningsson,Kioomars Saliminejad,Hamid Reza Khorram Khorshid,Ivana Novakovic,Adriano Aguzzi,Andreas Boss,Isabelle Le Ber,Gilles Defer,Didier Hannequin,Vladimir S. Kostic,Dominique Campion,Daniel H. Geschwind,Giovanni Coppola,Christer Betsholtz,Christer Betsholtz,Christine Klein,João Ricardo Mendes de Oliveira +54 more
TL;DR: The data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari,Darius Ebrahimi-Fakhari,Afshin Saffari,Ana Westenberger,Christine Klein +4 more
TL;DR: A comprehensive review of 1444 published cases of PRRT2-associated diseases is provided, providing a detailed assessment of the demographics, disease characteristics and genetic findings of patients withPRRT2 mutations.
Journal ArticleDOI
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.
Meike Kasten,Corinna Hartmann,Jennie Hampf,Susen Schaake,Ana Westenberger,Eva-Juliane Vollstedt,Alexander Balck,Aloysius Domingo,Franca Vulinovic,Marija Dulovic,Ingo Zorn,Harutyun Madoev,Hanna Zehnle,Christina M. Lembeck,Leopold Schawe,Jennifer Reginold,Jana Huang,Inke R. König,Lars Bertram,Connie Marras,Katja Lohmann,Christina M. Lill,Christine Klein +22 more
TL;DR: It is concluded that systematic reporting of phenotypes is a pressing need in light of increasingly available molecular genetic testing and the emergence of first gene‐specific therapies entering clinical trials.
Journal ArticleDOI
Phenotypic insights into ADCY5-associated disease
Florence C.F. Chang,Ana Westenberger,Russell C. Dale,Martin Smith,Hardev Pall,Belén Pérez-Dueñas,Padraic Grattan-Smith,Robert A. Ouvrier,Neil Mahant,Bernadette C. Hanna,Matthew F. Hunter,John A. Lawson,Christoph Max,Rani Sachdev,Esther Meyer,Dennis Crimmins,D. S. Pryor,John G. Morris,Alexander Münchau,Detelina Grozeva,Keren J. Carss,Keren J. Carss,Lucy Raymond,Manju A. Kurian,Christine Klein,Victor S.C. Fung +25 more
TL;DR: Detailed clinical data is provided on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCy5 mutations.