Publications by authors named "Katja Lohmann"

99Publications

Linking Huntington's Disease and X-linked Dystonia Parkinsonism on the Molecular Level.

Mov Disord 2020 10 22;35(10):1752-1753. Epub 2020 Sep 22.

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

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http://dx.doi.org/10.1002/mds.28287DOI Listing
October 2020

Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.

Parkinsonism Relat Disord 2020 Sep 11;80:41-46. Epub 2020 Sep 11.

Institute of Neurogenetics, University of Lübeck, 23562, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig Holstein, Campus Lübeck, 23562, Lübeck, Germany; Center of Brain, Behavior and Metabolism (CBBM), University of Lübeck, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2020.09.012DOI Listing
September 2020

Clinical spectrum of the pentanucleotide repeat expansion in the gene in ataxia syndromes.

Neurology 2020 11 1;95(21):e2912-e2923. Epub 2020 Sep 1.

From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Schleswig-Holstein, Campus Lübeck; Department of Neurology (K.I.), Klinikum Aschaffenburg; Department of Neurology (K.B.), Kliniken Schmieder, Stuttgart, Germany; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (M.B.), University of Melbourne; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; and Department of Pediatrics (P.J.L.), University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000010744DOI Listing
November 2020

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases.

Parkinsonism Relat Disord 2020 Aug 19;79:34-39. Epub 2020 Aug 19.

Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.08.015DOI Listing
August 2020

A novel homozygous KY variant causing a complex neurological disorder.

Eur J Med Genet 2020 Nov 18;63(11):104031. Epub 2020 Aug 18.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554104PMC
November 2020

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters.

Neurodegener Dis 2020 24;20(1):39-45. Epub 2020 Jun 24.

Institute of Neurogenetics, University of Lubeck, Lubeck, Germany.

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http://dx.doi.org/10.1159/000508131DOI Listing
June 2020

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation.

Mov Disord Clin Pract 2020 May 3;7(4):453-455. Epub 2020 Apr 3.

Department of Neurology Charité University Medicine Berlin Berlin Germany.

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http://dx.doi.org/10.1002/mdc3.12931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197318PMC
May 2020

Rediscovery of repeat expansions: Solving the unsolved cases.

Mov Disord 2019 09 23;34(9):1300. Epub 2019 Aug 23.

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

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http://dx.doi.org/10.1002/mds.27825DOI Listing
September 2019

The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations.

Parkinsonism Relat Disord 2019 08 23;65:284-285. Epub 2019 Jun 23.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.06.020DOI Listing
August 2019

Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?

Ann Clin Transl Neurol 2019 Jun 2;6(6):1102-1105. Epub 2019 May 2.

Institute of Neurogenetics University of Lübeck Lübeck Germany.

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http://dx.doi.org/10.1002/acn3.775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562023PMC
June 2019

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Parkinsonism Relat Disord 2019 08 25;65:274-276. Epub 2019 May 25.

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

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.036DOI Listing
August 2019

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.

Parkinsonism Relat Disord 2019 07 25;64:337-339. Epub 2019 Mar 25.

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

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.018DOI Listing
July 2019

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.

J Neurol Sci 2019 01 22;396:199-201. Epub 2018 Nov 22.

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

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http://dx.doi.org/10.1016/j.jns.2018.11.024DOI Listing
January 2019

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease.

Parkinsonism Relat Disord 2019 04 26;61:151-155. Epub 2018 Oct 26.

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

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http://dx.doi.org/10.1016/j.parkreldis.2018.10.028DOI Listing
April 2019

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.

Mov Disord 2018 12 24;33(12):1857-1870. Epub 2018 Oct 24.

The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.27527DOI Listing
December 2018

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.

Stem Cell Res 2018 12 1;33:60-64. Epub 2018 Oct 1.

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

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http://dx.doi.org/10.1016/j.scr.2018.09.018DOI Listing
December 2018

Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar.

Mov Disord 2018 08;33(8):1271

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

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http://dx.doi.org/10.1002/mds.94DOI Listing
August 2018

Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia.

Parkinsonism Relat Disord 2018 12 27;57:50-57. Epub 2018 Jul 27.

Lübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Cardiogenetics, University of Lübeck, Lübeck, Germany; School of Public Health, Faculty of Medicine, Imperial College, London, UK; Dept of Psychology, University of Oslo, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.07.018DOI Listing
December 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

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Neuropediatrics 2018 08 22;49(4):296-297. Epub 2018 Feb 22.

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

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http://dx.doi.org/10.1055/s-0038-1626709DOI Listing
August 2018

Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.

Parkinsonism Relat Disord 2018 06 6;51:91-95. Epub 2018 Feb 6.

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

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.005DOI Listing
June 2018

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.

J Clin Neurosci 2018 Apr 21;50:131-132. Epub 2018 Feb 21.

Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Movement Disorders Section, Campus Virchow Klinikum and Campus Mitte, Department of Neurology, Charitéplatz 1, 10119 Berlin, Germany.

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http://dx.doi.org/10.1016/j.jocn.2018.01.055DOI Listing
April 2018

A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.

Mov Disord 2017 10 18;32(10):1495-1497. Epub 2017 Sep 18.

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

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http://dx.doi.org/10.1002/mds.27137DOI Listing
October 2017

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.

J Hum Genet 2017 Nov 20;62(11):1005-1006. Epub 2017 Jul 20.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1038/jhg.2017.73DOI Listing
November 2017

Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers.

Parkinsonism Relat Disord 2017 Sep 8;42:95-99. Epub 2017 Jul 8.

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

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http://dx.doi.org/10.1016/j.parkreldis.2017.07.003DOI Listing
September 2017

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.

Hum Mol Genet 2017 08;26(15):2975-2983

Section for Functional Genetics at the Institute for Human Genetics, University of Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddx187DOI Listing
August 2017

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.

J Neurol 2017 Jul 28;264(7):1520-1522. Epub 2017 Apr 28.

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

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http://dx.doi.org/10.1007/s00415-017-8494-zDOI Listing
July 2017

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.

J Neurol 2017 May 20;264(5):1008-1010. Epub 2017 Mar 20.

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

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http://dx.doi.org/10.1007/s00415-017-8464-5DOI Listing
May 2017

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

J Mol Neurosci 2017 May 15;62(1):11-16. Epub 2017 Mar 15.

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

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http://dx.doi.org/10.1007/s12031-017-0904-2DOI Listing
May 2017

Update on the Genetics of Dystonia.

Curr Neurol Neurosci Rep 2017 03;17(3):26

Institute of Neurogenetics, University of Luebeck, Maria-Goeppert-Str. 1, 23562, Luebeck, Germany.

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http://dx.doi.org/10.1007/s11910-017-0735-0DOI Listing
March 2017

A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.

Parkinsonism Relat Disord 2017 04 9;37:120-122. Epub 2017 Feb 9.

Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.02.009DOI Listing
April 2017

Munchausen syndrome by genetics: Next-generation challenges for clinicians.

Neurology 2017 03 3;88(10):1000-1001. Epub 2017 Feb 3.

From the Institute of Neurogenetics (S.Z., K.L., C.K., A.M.), University of Lübeck; and the Institute of Medical Genetics and Applied Genomics (P.B.), University Hospital of Tübingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003695DOI Listing
March 2017

Evaluating the role of TMEM230 variants in Parkinson's disease.

Parkinsonism Relat Disord 2017 02 20;35:100-101. Epub 2016 Dec 20.

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

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http://dx.doi.org/10.1016/j.parkreldis.2016.12.015DOI Listing
February 2017

PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology.

Mov Disord 2016 12 6;31(12):1927-1929. Epub 2016 Oct 6.

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

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http://dx.doi.org/10.1002/mds.26814DOI Listing
December 2016

Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp.

J Neurogenet 2016 Sep - Dec;30(3-4):276-279. Epub 2016 Oct 4.

a Department of Neurology , University of Kiel , Germany.

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http://dx.doi.org/10.1080/01677063.2016.1238916DOI Listing
December 2017

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

Launching the movement disorders society genetic mutation database (MDSGene).

Mov Disord 2016 05;31(5):607-9

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.26651DOI Listing
May 2016

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.

Mov Disord 2016 Apr 17;31(4):471-7. Epub 2016 Mar 17.

Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.

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http://dx.doi.org/10.1002/mds.26600DOI Listing
April 2016

Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?

Parkinsonism Relat Disord 2016 Apr 20;25:33-8. Epub 2016 Feb 20.

Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany; Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149539PMC
April 2016

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

Mutations in TUBB4A and spastic paraplegia.

Mov Disord 2015 Nov 19;30(13):1857-8. Epub 2015 Oct 19.

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

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http://dx.doi.org/10.1002/mds.26444DOI Listing
November 2015

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

J Neurol 2015 May 1;262(5):1340-3. Epub 2015 Apr 1.

Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00415-015-7718-3DOI Listing
May 2015

REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations.

Mov Disord 2015 Apr 15;30(4):597-8. Epub 2015 Mar 15.

Paracelsus-Elena Klinik, Center for Parkinsonism and Movement Disorders, Kassel, Germany; Department of Neurology, Philipps-University Marburg, Germany.

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http://dx.doi.org/10.1002/mds.26193DOI Listing
April 2015

Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.

Neurology 2015 Mar 4;84(9):895-903. Epub 2015 Feb 4.

From the Institute of Neurogenetics (N.B., S.A.S., S.Z., A.M., K.L., C. Klein), University of Lübeck; Department of Neurology (N.B.), University Hospital Schleswig-Holstein, Campus Lübeck; Department of Neurology (A. Kühn, P.K.), Virchow Clinics, University Berlin Charité; Department of Neurology (S.A.S., G.D.), University Hospital Schleswig-Holstein, Campus Kiel; Department of Neurology (C. Kamm, A.W., M.W.), University Hospital Rostock, Germany; Movement Disorders Center (E.M., Y.-Y.P.), Toronto Western Hospital, University of Toronto, UHN, Canada; Movement Disorders Unit (E.M.), Division of Psychiatry and Neurology, CHU Grenoble, Joseph Fourier University, Grenoble, France; Department of Neurology (F.S., J.V.), University Hospital Würzburg; Department of Neurosurgery (V.T.), University Hospital Lübeck, Germany; Division of Neurosurgery (A.M.L., C.H.), Department of Surgery, University of Toronto, Canada; Center for Neurology and Hertie-Institute for Clinical Brain Research (T.W., R.K.), University Hospital Tübingen, Center for Integrative Neurosciences, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen; Clinical and Experimental Neuroscience (R.K.), Luxembourg Centre for Systems Biomedicine, University of Luxembourg; and Department of Neurology and Stereotactic Neurosurgery (A. Kupsch), Basal Ganglia Research Group, Otto von Guericke University Magdeburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170184PMC
March 2015

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts.

J Med Genet 2015 Jan 3;52(1):37-41. Epub 2014 Nov 3.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2014-102570DOI Listing
January 2015

GNAL mutations and dystonia--reply.

JAMA Neurol 2014 Aug;71(8):1053-4

Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.

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http://dx.doi.org/10.1001/jamaneurol.2014.1509DOI Listing
August 2014

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

Biochim Biophys Acta 2014 Nov 1;1839(11):1196-204. Epub 2014 Aug 1.

Sektion für Funktionelle Genetik am Institut für Humangenetik, University of Luebeck, Luebeck 23538, Germany.

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http://dx.doi.org/10.1016/j.bbagrm.2014.07.019DOI Listing
November 2014

Next generation sequencing and the future of genetic diagnosis.

Neurotherapeutics 2014 Oct;11(4):699-707

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

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http://dx.doi.org/10.1007/s13311-014-0288-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391380PMC
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

The many faces of TUBB4A mutations.

Neurogenetics 2014 May 21;15(2):81-2. Epub 2014 Mar 21.

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

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http://dx.doi.org/10.1007/s10048-014-0399-8DOI Listing
May 2014

The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.

J Neurol 2014 Apr 9;261(4):833-4. Epub 2014 Mar 9.

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

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http://dx.doi.org/10.1007/s00415-014-7306-yDOI Listing
April 2014

Mutations in VPS26A are not a frequent cause of Parkinson's disease.

Neurobiol Aging 2014 Jun 27;35(6):1512.e1-2. Epub 2013 Dec 27.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.016DOI Listing
June 2014

Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort.

Neurology 2013 Oct 30;81(14):1226-34. Epub 2013 Aug 30.

From the Center of Parkinsonism and Movement Disorders (B.M., E.T., F.S.-D., T.W., J.E., M.S., E.L., C.T.), Paracelsus-Elena-Klinik, Kassel; Department of Neurosurgery (B.M., N.K.F., C.T.), University Medical Centre, Goettingen; Department of Psychology (E.T.), University Kassel; Section of Clinical and Molecular Neurogenetics at the Department of Neurology (K.R.K., K.L., C.K.), University of Luebeck; Departments of Neuropathology (B.M.) and Medical Statistics (T.F.), University Medical Centre, Goettingen, Germany; Program in Neuroscience (M.G.S.), Ottawa Hospital Research Institute; Division of Neurology, The Ottawa Hospital, University of Ottawa, Canada; and ReSearch Pharmaceutical Services (R.K.), Nuremberg, Germany.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6cbd5DOI Listing
October 2013

Genetics of dystonia: what's known? What's new? What's next?

Mov Disord 2013 Jun;28(7):899-905

Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.

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http://dx.doi.org/10.1002/mds.25536DOI Listing
June 2013