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28. July 2021 (DysTract)
A Multi-center Genome-wide Association Study of Cervical Dystonia
Mov. Disord. 2021 Jul 28. >>PubMed-Link<<
Sun YV, Li CC, Hui Q, Huang YF, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Kramer UM, Neis M, Baumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kuhn AA, Borngraber F, Konig IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA.
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1. April 2021 (DysTract)
Motor learning deficits in cervical dystonia point to defective basal ganglia circuitry.
Scientific Reports. 2021 April 1. >>PubMed-Link<<
Loens S, Verrel J, Herrmann VM, Kienzle A, Tzvi E, Weissbach A, Junker J, Munchau A, Baumer T.
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1. March 2021 (DysTract)
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review
Movement Disorders. 2021 May. >>PubMed-Link<<
Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, Konig IR, Camargos S, Ozelius LJ, Klein C, Lohmann K.
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1. March 2021 (DysTract)
Truncating VPS16 Mutations Are Rare in Early Onset Dystonia
Annals of Neurology 2021 Mar. >>PubMed-Link<<
Pott H, Bruggemann N, Reese R, Zeuner KE, Gandor F, Gruber D, Klein C, Volkmann J, Lohmann K, DysTract Study G.
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2. January 2019 (DysTract)
Role of ANO3 mutations in dystonia: A large-scale mutational screening
Parkinsonism Relat Disord. 2019 Jan 2. pii: S1353-8020(18)30564-9. doi: 10.1016/j.parkreldis.2018.12.030
Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K.
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7. April 2018 (DysTract)
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome – Diagnostic delay of more than 40 years
J Clin Neurosci. 2018 Apr;50:131-132. doi: 10.1016/j.jocn.2018.01.055.
Kübler D, Borngräber F, Lohmann K, Kühn AA.
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22. February 2018 (DysTract)
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.
Neuropediatrics. 2018 Feb 22. doi: 10.1055/s-0038-1626709.
Flotats-Bastardas M, Hebert E, Raspall-Chaure M, Munell F, Macaya A, Lohmann K.
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6. February 2018 (DysTract)
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
Parkinsonism Relat Disord. 2018 Feb 6. pii: S1353-8020(18)30041-5. doi: 10.1016/j.parkreldis.2018.02.005.
Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Naz S, Lohmann K.
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15. December 2017 (DysTract)
A localized pallidal physiomarker in cervical dystonia
Ann Neurol. 2017 Dec;82(6):912-924. doi: 10.1002/ana.25095. Epub 2017 Dec 5.
Neumann WJ, Horn A, Ewert S, Huebl J, Brücke C, Slentz C, Schneider GH, Kühn AA
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30. October 2017 (DysTract)
Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.
Nat Commun. 2017 Oct 30;8(1):678. doi: 10.1038/s41467-017-00689-z.
Lüningschrör P, Binotti B, Dombert B, Heimann P, Perez-Lara A, Slotta C, Thau-Habermann N, R von Collenberg C, Karl F, Damme M, Horowitz A, Maystadt I, Füchtbauer A, Füchtbauer EM, Jablonka S, Blum R, Üçeyler N, Petri S, Kaltschmidt B, Jahn R, Kaltschmidt C, Sendtner M.
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25. October 2017 (DysTract)
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation
Ann Neurol. 2017 Oct;82(4):543-553. doi: 10.1002/ana.25035.
Weissbach A, Werner E, Bally JF, Tunc S, Löns S, Timmann D, Zeuner KE, Tadic V, Brüggemann N, Lang A, Klein C, Münchau A, Bäumer T.
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8. October 2017 (DysTract)
Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias
Genes (Basel) 2017;8:E276.
Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K.
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29. September 2017 (DysTract)
Motor Cortical Plasticity Relates to Symptom Severity and Clinical Benefit From Deep Brain Stimulation in Cervical Dystonia
Neuromodulation. 2017 Sep 29. doi: 10.1111/ner.12690
Kroneberg D, Plettig P, Schneider GH, Kühn AA
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24. September 2017 (DysTract)
Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy.
Gene Ther. 2017 Sep;24(9):506-513. doi: 10.1038/gt.2017.46. Epub 2017 May 30.
Jablonka, S., Sendtner, M.
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18. September 2017 (DysTract)
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.
Mov Disord. 2017 Sep 18. doi: 10.1002/mds.27137.
Lange LM, Tunc S, Tennstedt S, Münchau A, Klein C, Assmann B, Lohmann K.
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31. August 2017 (DysTract)
Treatable inherited rare movement disorders
Mov Disord. 2017 Sep 1. doi: 10.1002/mds.27140.
Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson’s Disease Movement Disorders Society Task Force on Rare Movement Disorders.
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7. August 2017 (DysTract)
Screening study of TUBB4A in isolated dystonia.
Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001.
Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C.
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7. July 2017 (DysTract)
Genetic risk variants in Parkinson’s disease and other movement disorders
Nervenarzt. 2017 Jul;88(7):713-719. doi: 10.1007/s00115-017-0348-5.
Brockmann K, Lohmann K.
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17. March 2017 (DysTract)
Update on the Genetics of Dystonia.
Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. doi: 10.1007/s11910-017-0735-0.
Lohmann K, Klein C.
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15. March 2017 (DysTract)
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA.
Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018.
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9. February 2017 (DysTract)
A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism
Parkinsonism Relat Disord. 2017 Feb 9. pii: S1353-8020(17)30043-3. doi: 10.1016/j.parkreldis.2017.02.009.
Wenzel GR, Lohmann K, Kühn AA
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3. February 2017 (DysTract)
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing
J Neural Transm (Vienna). 2017 Apr;124(4):417-430. doi: 10.1007/s00702-016-1656-9. Epub 2017 Feb 3
Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R
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3. October 2016 (DysTract)
Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury.
Acta Neuropathol Commun. 2016 Oct 3;4(1):108
Ip CW, Isaias IU, Kusche-Tekin BB, Klein D, Groh J, O’Leary A, Knorr S, Higuchi T, Koprich JB, Brotchie JM, Toyka KV, Reif A, Volkmann J.
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