Ana Westenberger

Ana Westenberger

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Ana Westenberger

Ana Westenberger

Publications by authors named "Ana Westenberger"

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Primary familial brain calcifications: genetic and clinical update.

Curr Opin Neurol 2019 Aug;32(4):571-578

Institute of Neurogenetics.

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http://dx.doi.org/10.1097/WCO.0000000000000712DOI Listing
August 2019

Biallelic MYORG mutations: Primary familial brain calcification goes recessive.

Mov Disord 2019 03 24;34(3):322. Epub 2019 Jan 24.

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

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http://dx.doi.org/10.1002/mds.27629DOI Listing
March 2019

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.

Neuropediatrics 2018 08 25;49(4):246-255. Epub 2018 May 25.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1055/s-0038-1645884DOI Listing
August 2018

An integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism.

Mov Disord 2018 07;33(7):1095

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

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http://dx.doi.org/10.1002/mds.27458DOI Listing
July 2018

mutations may cause a mutation-negative Rett syndrome phenotype.

Neurol Genet 2018 Apr 27;4(2):e227. Epub 2018 Mar 27.

Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873728PMC
April 2018

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.

Parkinsonism Relat Disord 2017 Jul 20;40:73-75. Epub 2017 Apr 20.

Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.04.013DOI Listing
July 2017

Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.

Parkinsonism Relat Disord 2017 04 10;37:43-49. Epub 2017 Jan 10.

Movement Disorders Section, Department of Neurology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2017.01.006DOI Listing
April 2017

Reply letter to "ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity".

Mov Disord 2017 02 1;32(2):306. Epub 2016 Dec 1.

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

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http://dx.doi.org/10.1002/mds.26881DOI Listing
February 2017

RAB39B mutations are a rare finding in Parkinson disease patients.

Parkinsonism Relat Disord 2016 Feb 22;23:116-7. Epub 2015 Dec 22.

Institute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.12.014DOI Listing
February 2016

First Report of a Filipino with Mohr-Tranebjaerg Syndrome.

Mov Disord Clin Pract 2015 Dec 26;2(4):417-419. Epub 2015 Aug 26.

Institute for Neurosciences St. Luke's Medical Center Quezon City Philippines.

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http://doi.wiley.com/10.1002/mdc3.12210
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http://dx.doi.org/10.1002/mdc3.12210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178691PMC
December 2015

The evolving spectrum of PRRT2-associated paroxysmal diseases.

Brain 2015 Dec 23;138(Pt 12):3476-95. Epub 2015 Nov 23.

3 Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

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http://brain.oxfordjournals.org/content/brain/138/12/3476.fu
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv317DOI Listing
December 2015

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

Parkinsonism Relat Disord 2015 Oct 10;21(10):1256-9. Epub 2015 Aug 10.

Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.001DOI Listing
October 2015

A new gene for primary familial brain calcification: The importance of phosphate homeostasis.

Mov Disord 2015 Aug 21;30(9):1213. Epub 2015 Jul 21.

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

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http://dx.doi.org/10.1002/mds.26328DOI Listing
August 2015

Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

JAMA Neurol 2015 Apr;72(4):460-7

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany3Department of Psychiatry, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1001/jamaneurol.2014.3889DOI Listing
April 2015

Novel GNAL mutations in two German patients with sporadic dystonia.

Mov Disord 2014 Dec 7;29(14):1833-4. Epub 2014 Nov 7.

Department of Neurology, University of Rostock, Germany; Institute of Neurogenetics, University of Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.26066DOI Listing
December 2014

X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration.

J Neurol 2014 Nov 1;261(11):2225-7. Epub 2014 Oct 1.

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

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http://link.springer.com/10.1007/s00415-014-7483-8
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http://dx.doi.org/10.1007/s00415-014-7483-8DOI Listing
November 2014

The genetics of primary familial brain calcifications.

Curr Neurol Neurosci Rep 2014 Oct;14(10):490

Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, Lübeck, 23538, Germany.

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http://dx.doi.org/10.1007/s11910-014-0490-4DOI Listing
October 2014

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

Mov Disord 2014 Aug 13;29(9):1190-3. Epub 2014 Apr 13.

Neurology Clinic CCS, School of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.25876DOI Listing
August 2014

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Neurology 2014 Jun 7;82(22):1999-2002. Epub 2014 May 7.

From INSERM, U 975, and CNRS 7225-CRICM (A.M., C.D., O.T., D.B., I.L., M.V., A.B., E.R.), Département de Neurologie (A.M., M.V., E.R.), Fédération de Génétique, Département de Génétique et de Cytogénétique (C.D., A.B.), Banque d'ADN et de cellules (I.L.), Department of Biostatistics (J.-L.G.), and Centre d'Investigation Clinique Pitié Neurosciences 1422 (E.R.), Hôpital Pitié-Salpêtrière, AP-HP, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., C.D., M.V., A.B., E.R.), UMR_S 975, Paris; Laboratoire de Génétique (F.R.), Groupe hospitalier Lariboisière-Fernand Widal, AP-HP, Paris; INSERM UMR_S740 (F.R.), Université Paris 7 Denis Diderot, Paris, France; Unit of Neurology (M.C., A.B.), Florence Health Authority, Italy; Génétique Médicale (P.B.), CHU Paris Nord, Hôpital Jean Verdier, Bondy, France; Department of Human Genetics (J.W.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Neurogenetics (A.W.), University of Lübeck, Germany; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP, Paris, France; Unit of Neurology (M.R.), Villa Sofia-Cervello Hospital, Palermo; Department of Neuroscience (S.R.), Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena, Italy; Neurologie et Pathologie du Mouvement (L.D.), Neurologie A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046, Lille, France; Pediatric Neurology and Metabolism (L.D.M.), Universitair Ziekenhuis Brussel, Belgium; James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders (A.J.E.), University of Cincinnati Academic Health Center, Cincinnati, OH; IRCCS Fondazione Stella Maris (S.F.), Calambrone, Pisa, Italy; Department of Neurology (S.K.), University Hospital Würzburg, Germany; Service de Génétique Clinique (C.Q.), Hôpital Sud, Rennes, France; Institute for Human Genetics (S.R.-S.), Uniklinik RWTH Aachen, Germany; Service de Génétique (G.P.), CHU Clémenceau, Caen, F

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http://dx.doi.org/10.1212/WNL.0000000000000477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259PMC
June 2014

Mortalin mutations are not a frequent cause of early-onset Parkinson disease.

Neurobiol Aging 2013 Nov 5;34(11):2694.e19-20. Epub 2013 Jul 5.

Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.05.021DOI Listing
November 2013

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Curr Neuropharmacol 2013 Jan;11(1):59-79

Department of Neurology; University of Kiel, 24105 Kiel, Germany ; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.2174/157015913804999469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580793PMC
January 2013

Genetics of Parkinson's disease.

Cold Spring Harb Perspect Med 2012 Jan;2(1):a008888

Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1101/cshperspect.a008888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253033PMC
January 2012