A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.
Lange LM, Tunc S, Tennstedt S, Münchau A, Klein C, Assmann B, Lohmann K.
Mov Disord 2017;32:1495-1497.
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
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.
Genes (Basel) 2017;8:E276.
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.
Kübler D, Borngräber F, Lohmann K, Kühn AA.
J Clin Neurosci 2018;50:131-132.
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Naz S, Lohmann K.
Parkinsonism Relat Disord 2018, vorab online publiziert
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.
Flotats-Bastardas M, Hebert E, Raspall-Chaure M, Munell F, Macaya A, Lohmann K.
Neuropediatrics 2018, vorab online publiziert
Hereditary Dystonia Overview.
Klein C, Lohmann K, Marras C, Münchau A.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.
Lüningschrör, P., Binotti, B., Dombert, B., Heimann, P., Perez-Lara, A., Slotta, C., Thau-Habermann, N., Rüth von Collenberg, C., Karl, F., Damme. M., Horowitz, A., Maystadt, I., Füchtbauer, A., Füchtbauer, E.M., Jablonka, S., Blum, R., Üçeyler, N., Petri, S., Kaltschmidt, B., Jahn, R., Kaltschmidt, C., Sendtner, M.
Nature Comm. 8, Art.No. 678, 2017, Doi 10.1038/s41467-017-00689-z.
Differential roles of alpha-, beta-, and gamma-actin in axon growth and collateral branch formation in motoneurons.
Moradi, M., Sivadasan, R., Saal, L., Lüningschrör, P., Dombert, B., Rathod, R.J., Dieterich, D.C., Blum, R., Sendtner, M.
J Cell Biol 216, 793-814, 2017.
Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy.
Jablonka, S., Sendtner, M.
Gene Ther. 24, 506-513, 2017.
Genetic risk variants in Parkinson's disease and other movement disorders.
Brockmann K, Lohmann K.
Nervenarzt 2017, vorab online publiziert.
Screening study of TUBB4A in isolated dystonia.
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.
Parkinsonism Relat Disord 2017, vorab online publiziert.
Update on the Genetics of Dystonia.
Lohmann K, Klein C.
Curr Neurol Neurosci Rep 2017;17:26.
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing
Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R
J Neural Transm (Vienna). 2017 Apr;124(4):417-430. doi: 10.1007/s00702-016-1656-9. Epub 2017 Feb 3
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K, asuho 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.
A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism
Wenzel GR, Lohmann K, Kühn AA
Parkinsonism Relat Disord. 2017 Feb 9. pii: S1353-8020(17)30043-3. doi: 10.1016/j.parkreldis.2017.02.009.
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Steinrücke S, Lohmann K, Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A.
Neurol Genet 2016;2:e106.
Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury.
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.
Acta Neuropathol Commun. 2016 Oct 3;4(1):108