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Items: 1 to 50 of 268

1.

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

Trinh J, Hüning I, Yüksel Z, Baalmann N, Imhoff S, Klein C, Rolfs A, Gillessen-Kaesbach G, Lohmann K.

J Hum Genet. 2018 Jun 13. doi: 10.1038/s10038-018-0469-0. [Epub ahead of print]

PMID:
29899504
2.

Near absence of differential gene expression in the retina of rainbow trout after exposure to a magnetic pulse: implications for magnetoreception.

Fitak RR, Schweikert LE, Wheeler BR, Ernst DA, Lohmann KJ, Johnsen S.

Biol Lett. 2018 Jun;14(6). pii: 20180209. doi: 10.1098/rsbl.2018.0209.

PMID:
29875210
3.

Author Correction: Quantifying Nearshore Sea Turtle Densities: Applications of Unmanned Aerial Systems for Population Assessments.

Sykora-Bodie ST, Bezy V, Johnston DW, Newton E, Lohmann KJ.

Sci Rep. 2018 Apr 19;8(1):6479. doi: 10.1038/s41598-018-24799-w.

4.

Evidence that Magnetic Navigation and Geomagnetic Imprinting Shape Spatial Genetic Variation in Sea Turtles.

Brothers JR, Lohmann KJ.

Curr Biol. 2018 Apr 23;28(8):1325-1329.e2. doi: 10.1016/j.cub.2018.03.022. Epub 2018 Apr 12.

PMID:
29657117
5.

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.

Dulovic M, Schäffer E, Leypoldt F, Balck A, Schaake S, Hinrichs F, Kirchner H, Brüggemann N, Berg D, Lohmann K.

Parkinsonism Relat Disord. 2018 Apr 3. pii: S1353-8020(18)30146-9. doi: 10.1016/j.parkreldis.2018.04.001. [Epub ahead of print] No abstract available.

PMID:
29650490
6.

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C.

Mov Disord. 2018 May;33(5):730-741. doi: 10.1002/mds.27352. Epub 2018 Apr 11. Review.

PMID:
29644727
7.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.

Ann Neurol. 2018 Mar 31. doi: 10.1002/ana.25220. [Epub ahead of print]

PMID:
29604224
8.

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 Aug;49(4):296-297. doi: 10.1055/s-0038-1626709. Epub 2018 Feb 22. No abstract available.

PMID:
29471552
9.

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 Jun;51:91-95. doi: 10.1016/j.parkreldis.2018.02.005. Epub 2018 Feb 6.

PMID:
29449188
10.

Geomagnetic field influences upward movement of young Chinook salmon emerging from nests.

Putman NF, Scanlan MM, Pollock AM, O'Neil JP, Couture RB, Stoner JS, Quinn TP, Lohmann KJ, Noakes DLG.

Biol Lett. 2018 Feb;14(2). pii: 20170752. doi: 10.1098/rsbl.2017.0752.

PMID:
29438054
11.

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 Apr;50:131-132. doi: 10.1016/j.jocn.2018.01.055. Epub 2018 Feb 21.

PMID:
29429788
12.

Size-dependent avoidance of a strong magnetic anomaly in Caribbean spiny lobsters.

Ernst DA, Lohmann KJ.

J Exp Biol. 2018 Mar 1;221(Pt 5). pii: jeb172205. doi: 10.1242/jeb.172205.

PMID:
29361594
13.

Quantifying Nearshore Sea Turtle Densities: Applications of Unmanned Aerial Systems for Population Assessments.

Sykora-Bodie ST, Bezy V, Johnston DW, Newton E, Lohmann KJ.

Sci Rep. 2017 Dec 18;7(1):17690. doi: 10.1038/s41598-017-17719-x. Erratum in: Sci Rep. 2018 Apr 19;8(1):6479.

14.

A retrospective study of owner-requested testing as surveillance for equine infectious anemia in Canada (2009-2012).

Higgins SN, Howden KJ, James CR, Epp T, Lohmann KL.

Can Vet J. 2017 Dec;58(12):1294-1300.

15.

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 Oct 18;8(10). pii: E276. doi: 10.3390/genes8100276. Review.

16.

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 Oct;32(10):1495-1497. doi: 10.1002/mds.27137. Epub 2017 Sep 18. No abstract available. Erratum in: Mov Disord. 2018 Jan;33(1):184.

PMID:
28921672
17.

Winter amplification of the European Little Ice Age cooling by the subpolar gyre.

Moreno-Chamarro E, Zanchettin D, Lohmann K, Luterbacher J, Jungclaus JH.

Sci Rep. 2017 Aug 30;7(1):9981. doi: 10.1038/s41598-017-07969-0.

18.

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

Trinh J, Hüning I, Budler N, Hingst V, Lohmann K, Gillessen-Kaesbach G.

J Hum Genet. 2017 Nov;62(11):1005-1006. doi: 10.1038/jhg.2017.73. Epub 2017 Jul 20. No abstract available.

PMID:
28725024
19.

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

Weissbach A, König IR, Hückelheim K, Pramstaller PP, Werner E, Brüggemann N, Tadic V, Lohmann K, Bäumer T, Münchau A, Kasten M, Klein C.

Parkinsonism Relat Disord. 2017 Sep;42:95-99. doi: 10.1016/j.parkreldis.2017.07.003. Epub 2017 Jul 8.

PMID:
28716427
20.

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 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10.

PMID:
28655586
21.

Hereditary Dystonia Overview.

Klein C, Lohmann K, Marras C, Münchau A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. No abstract available.
2003 Oct 28 [updated 2017 Jun 22].

22.

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C.

JAMA Neurol. 2017 Jul 1;74(7):806-812. doi: 10.1001/jamaneurol.2017.0666.

23.

[Genetic risk variants in Parkinson's disease and other movement disorders].

Brockmann K, Lohmann K.

Nervenarzt. 2017 Jul;88(7):713-719. doi: 10.1007/s00115-017-0348-5. Review. German.

PMID:
28536875
24.

Detection of magnetic field properties using distributed sensing: a computational neuroscience approach.

Taylor BK, Johnsen S, Lohmann KJ.

Bioinspir Biomim. 2017 May 19;12(3):036013. doi: 10.1088/1748-3190/aa6ccd.

PMID:
28524068
25.

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C.

Mov Disord. 2017 May;32(5):724-725. doi: 10.1002/mds.27045. No abstract available.

PMID:
28513081
26.

Blood gases, biochemistry and haematology of Galápagos hawksbill turtles (Eretmochelys imbricata).

Muñoz-Pérez JP, Lewbart GA, Hirschfeld M, Alarcón-Ruales D, Denkinger J, Castañeda JG, García J, Lohmann KJ.

Conserv Physiol. 2017 May 10;5(1):cox028. doi: 10.1093/conphys/cox028. eCollection 2017.

27.

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

Hollstein R, Reiz B, Kötter L, Richter A, Schaake S, Lohmann K, Kaiser FJ.

Hum Mol Genet. 2017 Aug 1;26(15):2975-2983. doi: 10.1093/hmg/ddx187.

PMID:
28486698
28.

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

Balck A, Hanssen H, Hellenbroich Y, Lohmann K, Münchau A.

J Neurol. 2017 Jul;264(7):1520-1522. doi: 10.1007/s00415-017-8494-z. Epub 2017 Apr 28. No abstract available.

PMID:
28455667
29.

Candidate genes mediating magnetoreception in rainbow trout (Oncorhynchus mykiss).

Fitak RR, Wheeler BR, Ernst DA, Lohmann KJ, Johnsen S.

Biol Lett. 2017 Apr;13(4). pii: 20170142. doi: 10.1098/rsbl.2017.0142.

30.

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

Tadic V, Klein C, Hinrichs F, Münchau A, Lohmann K, Brüggemann N.

J Neurol. 2017 May;264(5):1008-1010. doi: 10.1007/s00415-017-8464-5. Epub 2017 Mar 20. No abstract available.

PMID:
28321562
31.

Caffeine, creatine, GRIN2A and Parkinson's disease progression.

Simon DK, Wu C, Tilley BC, Lohmann K, Klein C, Payami H, Wills AM, Aminoff MJ, Bainbridge J, Dewey R, Hauser RA, Schaake S, Schneider JS, Sharma S, Singer C, Tanner CM, Truong D, Wei P, Wong PS, Yang T.

J Neurol Sci. 2017 Apr 15;375:355-359. doi: 10.1016/j.jns.2017.02.032. Epub 2017 Feb 17.

32.

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

Richter A, Hollstein R, Hebert E, Vulinovic F, Eckhold J, Osmanovic A, Depping R, Kaiser FJ, Lohmann K.

J Mol Neurosci. 2017 May;62(1):11-16. doi: 10.1007/s12031-017-0904-2. Epub 2017 Mar 15.

PMID:
28299530
33.

Update on the Genetics of Dystonia.

Lohmann K, Klein C.

Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. doi: 10.1007/s11910-017-0735-0. Review.

PMID:
28283962
34.

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

Wenzel GR, Lohmann K, Kühn AA.

Parkinsonism Relat Disord. 2017 Apr;37:120-122. doi: 10.1016/j.parkreldis.2017.02.009. Epub 2017 Feb 9. No abstract available.

PMID:
28214263
35.

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

Zittel S, Lohmann K, Bauer P, Klein C, Münchau A.

Neurology. 2017 Mar 7;88(10):1000-1001. doi: 10.1212/WNL.0000000000003695. Epub 2017 Feb 3. No abstract available.

PMID:
28159884
36.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A.

Sci Rep. 2017 Feb 3;7:41156. doi: 10.1038/srep41156.

37.

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.

PMID:
28087732
38.

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

Baumann H, Wolff S, Münchau A, Hagenah JM, Lohmann K, Klein C.

Parkinsonism Relat Disord. 2017 Feb;35:100-101. doi: 10.1016/j.parkreldis.2016.12.015. Epub 2016 Dec 20. No abstract available.

PMID:
28017548
39.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.

Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A.

Mov Disord. 2016 Dec;31(12):1929-1931. doi: 10.1002/mds.26816. Epub 2016 Oct 27. No abstract available.

PMID:
27787937
40.

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

Klein C, Löchte T, Delamonte SM, Braenne I, Hicks AA, Zschiedrich-Jansen K, Simon DK, Friedman JH, Lohmann K.

Mov Disord. 2016 Dec;31(12):1927-1929. doi: 10.1002/mds.26814. Epub 2016 Oct 6. No abstract available.

PMID:
27709683
41.

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

Zeuner KE, Acewicz A, Knutzen A, Dressler D, Lohmann K, Witt K.

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

PMID:
27696930
42.

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 Sep 13;2(5):e106. doi: 10.1212/NXG.0000000000000106. eCollection 2016 Oct.

43.

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders.

Mov Disord. 2016 Nov;31(11):1760-1762. doi: 10.1002/mds.26763. Epub 2016 Sep 13. No abstract available.

PMID:
27619077
44.

Equine motor neuron disease in 2 horses from Saskatchewan.

Husulak ML, Lohmann KL, Gabadage K, Wojnarowicz C, Marqués FJ.

Can Vet J. 2016 Jul;57(7):771-6.

45.

End-Cretaceous extinction in Antarctica linked to both Deccan volcanism and meteorite impact via climate change.

Petersen SV, Dutton A, Lohmann KC.

Nat Commun. 2016 Jul 5;7:12079. doi: 10.1038/ncomms12079.

46.

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

Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, Klein C, Bertram L.

Mov Disord. 2016 May;31(5):607-9. doi: 10.1002/mds.26651. Review. No abstract available.

PMID:
27156390
47.

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C.

Mov Disord. 2016 Apr;31(4):436-57. doi: 10.1002/mds.26527. Review.

PMID:
27079681
48.

Effect of magnetic pulses on Caribbean spiny lobsters: implications for magnetoreception.

Ernst DA, Lohmann KJ.

J Exp Biol. 2016 Jun 15;219(Pt 12):1827-32. doi: 10.1242/jeb.136036. Epub 2016 Apr 4.

49.

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

Domingo A, Erro R, Lohmann K.

Mov Disord. 2016 Apr;31(4):471-7. doi: 10.1002/mds.26600. Epub 2016 Mar 17. Review.

PMID:
26991507
50.

Multi-Modal Homing in Sea Turtles: Modeling Dual Use of Geomagnetic and Chemical Cues in Island-Finding.

Endres CS, Putman NF, Ernst DA, Kurth JA, Lohmann CM, Lohmann KJ.

Front Behav Neurosci. 2016 Feb 22;10:19. doi: 10.3389/fnbeh.2016.00019. eCollection 2016.

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