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Items: 1 to 50 of 278

1.

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

Chung SJ, König IR, Lohmann K, Hinrichs F, Kim J, Ryu HS, Lee HJ, Kim K, Lee JH, Jung KW, Kim MJ, Kim MJ, Kim YJ, Yun SC, Hong SM, Myung SJ, Klein C.

Parkinsonism Relat Disord. 2018 Oct 26. pii: S1353-8020(18)30463-2. doi: 10.1016/j.parkreldis.2018.10.028. [Epub ahead of print]

PMID:
30424941
2.

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

Trinh J, Zeldenrust FMJ, Huang J, Kasten M, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C.

Mov Disord. 2018 Oct 24. doi: 10.1002/mds.27527. [Epub ahead of print] Review.

PMID:
30357936
3.

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

Baumann H, Jahn M, Muenchau A, Trilck-Winkler M, Lohmann K, Seibler P.

Stem Cell Res. 2018 Oct 1;33:60-64. doi: 10.1016/j.scr.2018.09.018. [Epub ahead of print]

4.

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

Petkovic S, Lohmann K.

Mov Disord. 2018 Aug;33(8):1271. doi: 10.1002/mds.94. No abstract available.

PMID:
30230623
5.

EVALUATION OF THE OPHTHALMIC DISEASE AND HISTOPATHOLOGIC EFFECTS DUE TO THE OCULAR TREMATODE PHILOPHTHALMUS ZALOPHI ON JUVENILE GALAPAGOS SEA LIONS ( ZALOPHUS WOLLEBAEKI).

Phillips BE, Páez-Rosas D, Flowers JR, Cullen JM, Law JM, Colitz C, Deresienski D, Lohmann KJ, Lewbart GA.

J Zoo Wildl Med. 2018 Sep;49(3):581-590. doi: 10.1638/2017-0096.1.

PMID:
30212353
6.

Animal migration research takes wing.

Lohmann KJ.

Curr Biol. 2018 Sep 10;28(17):R952-R955. doi: 10.1016/j.cub.2018.08.016.

PMID:
30205070
7.

Haematology and biochemistry of the San Cristóbal Lava Lizard (Microlophus bivittatus).

Arguedas R, Steinberg D, Lewbart GA, Deresienski D, Lohmann KJ, Muñoz-Pérez JP, Valle CA.

Conserv Physiol. 2018 Aug 17;6(1):coy046. doi: 10.1093/conphys/coy046. eCollection 2018.

8.

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

Ohlei O, Dobricic V, Lohmann K, Klein C, Lill CM, Bertram L.

Parkinsonism Relat Disord. 2018 Jul 27. pii: S1353-8020(18)30329-8. doi: 10.1016/j.parkreldis.2018.07.018. [Epub ahead of print]

PMID:
30100364
9.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.

Hum Mutat. 2018 Aug 6. doi: 10.1002/humu.23602. [Epub ahead of print]

PMID:
30079973
10.

Integrity and Collaboration in Dynamic Sensor Networks.

Schön S, Brenner C, Alkhatib H, Coenen M, Dbouk H, Garcia-Fernandez N, Fischer C, Heipke C, Lohmann K, Neumann I, Nguyen U, Paffenholz JA, Peters T, Rottensteiner F, Schachtschneider J, Sester M, Sun L, Vogel S, Voges R, Wagner B.

Sensors (Basel). 2018 Jul 23;18(7). pii: E2400. doi: 10.3390/s18072400.

11.

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 Sep;63(9):997-1001. doi: 10.1038/s10038-018-0469-0. Epub 2018 Jun 13.

PMID:
29899504
12.

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
13.

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.

14.

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
15.

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 Sep;54:116-118. doi: 10.1016/j.parkreldis.2018.04.001. Epub 2018 Apr 3. No abstract available.

PMID:
29650490
16.

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
17.

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 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30.

PMID:
29604224
18.

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
19.

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
20.

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
21.

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
22.

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.

23.

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.

24.

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.

25.

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.

26.

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
27.

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.

28.

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
29.

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
30.

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.

31.

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.
2003 Oct 28 [updated 2017 Jun 22].

32.

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.

33.

[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
34.

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
35.

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
36.

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.

37.

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
38.

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
39.

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.

40.

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
41.

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.

42.

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
43.

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
44.

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
45.

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
46.

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.

47.

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.

48.

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
49.

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
50.

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

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