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Items: 1 to 50 of 294

1.

A Highly Emissive Surface Layer in Mixed-Halide Multication Perovskites.

Andaji-Garmaroudi Z, Abdi-Jalebi M, Guo D, Macpherson S, Sadhanala A, Tennyson EM, Ruggeri E, Anaya M, Galkowski K, Shivanna R, Lohmann K, Frohna K, Mackowski S, Savenije TJ, Friend RH, Stranks SD.

Adv Mater. 2019 Oct;31(42):e1902374. doi: 10.1002/adma.201902374. Epub 2019 Sep 6.

PMID:
31489713
2.

Rediscovery of repeat expansions: Solving the unsolved cases.

Lohmann K, Brüggemann N.

Mov Disord. 2019 Sep;34(9):1300. doi: 10.1002/mds.27825. Epub 2019 Aug 23. No abstract available.

PMID:
31442343
3.

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

Borsche M, Balck A, Kasten M, Lohmann K, Klein C, Brüggemann N.

Parkinsonism Relat Disord. 2019 Aug;65:284-285. doi: 10.1016/j.parkreldis.2019.06.020. Epub 2019 Jun 23.

PMID:
31255538
4.

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A.

J Neurodev Disord. 2019 Jun 25;11(1):11. doi: 10.1186/s11689-019-9270-4.

5.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K.

Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.

PMID:
31230721
6.

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

Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C.

Ann Clin Transl Neurol. 2019 May 2;6(6):1102-1105. doi: 10.1002/acn3.775. eCollection 2019 Jun.

7.

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

Dulovic-Mahlow M, Gajos A, Baumann H, Pozojevic J, Kaiser FJ, Bogucki A, Lohmann K.

Parkinsonism Relat Disord. 2019 Aug;65:274-276. doi: 10.1016/j.parkreldis.2019.05.036. Epub 2019 May 25. No abstract available.

PMID:
31153764
8.

Effective mydriasis in juvenile loggerhead turtles (Caretta caretta) following topical administration of rocuronium bromide and 10% phenylephrine.

Petritz OA, Westermeyer HD, Whitehead MC, Christiansen EF, Lohmann KJ, Lohmann CMF, Lewbart GA.

Vet Ophthalmol. 2019 May 23. doi: 10.1111/vop.12681. [Epub ahead of print]

PMID:
31120194
9.

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.

Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K.

Cerebellum. 2019 Aug;18(4):817-822. doi: 10.1007/s12311-019-01036-2.

PMID:
31111429
10.

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C.

Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3.

PMID:
30973967
11.

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

Klein C, Baumann H, Olschewski L, Hanssen H, Münchau A, Ferbert A, Brüggemann N, Lohmann K.

Parkinsonism Relat Disord. 2019 Jul;64:337-339. doi: 10.1016/j.parkreldis.2019.03.018. Epub 2019 Mar 25. No abstract available.

PMID:
30935829
12.

Real-world effectiveness and safety of glecaprevir/pibrentasvir for the treatment of chronic hepatitis C infection: data from the German Hepatitis C-Registry.

Berg T, Naumann U, Stoehr A, Sick C, John C, Teuber G, Schiffelholz W, Mauss S, Lohmann K, König B, Pangerl A, Niederau C.

Aliment Pharmacol Ther. 2019 Apr;49(8):1052-1059. doi: 10.1111/apt.15222. Epub 2019 Mar 15.

PMID:
30874328
13.

There and back again: natal homing by magnetic navigation in sea turtles and salmon.

Lohmann KJ, Lohmann CMF.

J Exp Biol. 2019 Feb 6;222(Pt Suppl 1). pii: jeb184077. doi: 10.1242/jeb.184077. Review.

14.

Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

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.

Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2.

PMID:
30712998
15.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

PMID:
30537300
16.

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

Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K.

J Neurol Sci. 2019 Jan 15;396:199-201. doi: 10.1016/j.jns.2018.11.024. Epub 2018 Nov 22. No abstract available.

PMID:
30502610
17.

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. 2019 Apr;61:151-155. doi: 10.1016/j.parkreldis.2018.10.028. Epub 2018 Oct 26.

PMID:
30424941
18.

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 Dec;33(12):1857-1870. doi: 10.1002/mds.27527. Epub 2018 Oct 24.

PMID:
30357936
19.

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 Dec;33:60-64. doi: 10.1016/j.scr.2018.09.018. Epub 2018 Oct 1.

20.

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
21.

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
22.

Animal migration research takes wing.

Lohmann KJ.

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

23.

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.

24.

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 Dec;57:50-57. doi: 10.1016/j.parkreldis.2018.07.018. Epub 2018 Jul 27.

PMID:
30100364
25.

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 Dec;39(12):1901-1915. doi: 10.1002/humu.23602. Epub 2018 Sep 7.

PMID:
30079973
26.

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.

27.

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
28.

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.

29.

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.

30.

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.

31.

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
32.

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.

PMID:
29644727
33.

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.

34.

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
35.

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
36.

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.

37.

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
38.

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.

39.

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.

40.

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.

41.

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.

42.

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
43.

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.

44.

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
45.

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
46.

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.

47.

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; 1993-2019.
2003 Oct 28 [updated 2017 Jun 22].

48.

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.

49.

[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
50.

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

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