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Items: 1 to 50 of 255

1.

Theory of rotational columnar structures of soft spheres.

Winkelmann J, Mughal A, Williams DB, Weaire D, Hutzler S.

Phys Rev E. 2019 Feb;99(2-1):020602. doi: 10.1103/PhysRevE.99.020602.

PMID:
30934268
2.

Single capillary oximetry and tissue ultrastructural sensing by dual-band dual-scan inverse spectroscopic optical coherence tomography.

Liu R, Winkelmann JA, Spicer G, Zhu Y, Eid A, Ameer GA, Backman V, Yi J.

Light Sci Appl. 2018 Aug 29;7:57. doi: 10.1038/s41377-018-0057-2. eCollection 2018.

3.

Biological and clinical insights from genetics of insomnia symptoms.

Lane JM, Jones SE, Dashti HS, Wood AR, Aragam KG, van Hees VT, Strand LB, Winsvold BS, Wang H, Bowden J, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Cade BE, Haas M, Kathiresan S, Little MA, Luik AI, Loudon AS, Purcell S, Richmond RC, Scheer FAJL, Schormair B, Tyrrell J, Winkelman JW, Winkelmann J; HUNT All In Sleep, Hveem K, Zhao C, Nielsen JB, Willer CJ, Redline S, Spiegelhalder K, Kyle SD, Ray DW, Zwart JA, Brumpton B, Frayling TM, Lawlor DA, Rutter MK, Weedon MN, Saxena R.

Nat Genet. 2019 Mar;51(3):387-393. doi: 10.1038/s41588-019-0361-7. Epub 2019 Feb 25.

PMID:
30804566
4.

[Genetics in neurology and psychiatry].

Rietschel M, Winkelmann J.

Nervenarzt. 2019 Feb;90(2):97-98. doi: 10.1007/s00115-019-0672-z. German. No abstract available.

PMID:
30758638
5.

Implementation and Utility of an Automated Text Messaging System to Facilitate Symptom Self-Monitoring and Identify Risk for Post-traumatic Stress Disorder and Depression in Trauma Center Patients.

Bunnell BE, Davidson TM, Winkelmann JR, Maples-Keller JL, Ridings LE, Dahne J, Fakhry SM, Ruggiero KJ.

Telemed J E Health. 2019 Feb 7. doi: 10.1089/tmj.2018.0170. [Epub ahead of print]

PMID:
30730263
6.

Reply to: A note on rotigotine for restless legs syndrome after renal transplantation.

Salminen AV, Allen RP, Högl B, Inoue Y, Oertel W, Winkelman JW, Trenkwalder C, Sampaio C, Winkelmann J.

Mov Disord. 2019 Jan;34(1):152-153. doi: 10.1002/mds.27570. No abstract available.

PMID:
30653726
7.

Reply to: Safety of dopamine agonists for treating restless legs syndrome.

Salminen AV, Allen RP, Högl B, Inoue Y, Oertel W, Winkelman JW, Trenkwalder C, Sampaio C, Winkelmann J.

Mov Disord. 2019 Jan;34(1):150-151. doi: 10.1002/mds.27571. No abstract available.

PMID:
30653723
8.

Spectral contrast optical coherence tomography angiography enables single-scan vessel imaging.

Winkelmann JA, Eid A, Spicer G, Almassalha LM, Nguyen TQ, Backman V.

Light Sci Appl. 2019 Jan 16;8:7. doi: 10.1038/s41377-018-0117-7. eCollection 2019.

9.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, Oexle K, Winkelmann J.

Nervenarzt. 2019 Feb;90(2):131-137. doi: 10.1007/s00115-018-0667-1. Review. German.

PMID:
30645660
10.

Restless Legs Syndrome and Other Movement Disorders of Sleep-Treatment Update.

Salminen AV, Winkelmann J.

Curr Treat Options Neurol. 2018 Nov 9;20(12):55. doi: 10.1007/s11940-018-0540-3. Review.

PMID:
30411165
11.

Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.

Necpál J, Zech M, Škorvánek M, Havránková P, Fečíková A, Winkelmann J, Jech R.

Mov Disord Clin Pract. 2017 Dec 3;5(1):89-91. doi: 10.1002/mdc3.12564. eCollection 2018 Jan-Feb.

12.

KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.

Barbagiovanni G, Germain PL, Zech M, Atashpaz S, Lo Riso P, D'Antonio-Chronowska A, Tenderini E, Caiazzo M, Boesch S, Jech R, Haslinger B, Broccoli V, Stewart AF, Winkelmann J, Testa G.

Cell Rep. 2018 Oct 23;25(4):988-1001. doi: 10.1016/j.celrep.2018.09.067.

13.

Austria: Health System Review.

Bachner F, Bobek J, Habimana K, Ladurner J, Lepuschutz L, Ostermann H, Rainer L, Schmidt AE, Zuba M, Quentin W, Winkelmann J.

Health Syst Transit. 2018 Aug;20(3):1-254. Review.

PMID:
30277215
14.

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.

Zech M, Lam DD, Weber S, Berutti R, Poláková K, Havránková P, Fečíková A, Strom TM, Růžička E, Jech R, Winkelmann J.

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003293. doi: 10.1101/mcs.a003293. Print 2018 Dec.

15.

Comorbidities, treatment, and pathophysiology in restless legs syndrome.

Trenkwalder C, Allen R, Högl B, Clemens S, Patton S, Schormair B, Winkelmann J.

Lancet Neurol. 2018 Nov;17(11):994-1005. doi: 10.1016/S1474-4422(18)30311-9. Epub 2018 Sep 21. Review.

PMID:
30244828
16.

Corrected Article: Simulation and observation of line-slip structures in columnar structures of soft spheres [Phys. Rev. E 96, 012610 (2017)].

Winkelmann J, Haffner B, Weaire D, Mughal A, Hutzler S.

Phys Rev E. 2017 Jul;97(5-2):059902. doi: 10.1103/PhysRevE.97.059902.

PMID:
29906839
17.

Common Grounds for Family Maladies.

Oexle K, Winkelmann J.

Neuron. 2018 May 16;98(4):671-672. doi: 10.1016/j.neuron.2018.05.006.

PMID:
29772195
18.

Treatment of restless legs syndrome: Evidence-based review and implications for clinical practice (Revised 2017)§.

Winkelmann J, Allen RP, Högl B, Inoue Y, Oertel W, Salminen AV, Winkelman JW, Trenkwalder C, Sampaio C.

Mov Disord. 2018 Jul;33(7):1077-1091. doi: 10.1002/mds.27260. Epub 2018 May 14. Review.

PMID:
29756335
19.

[Frequent neurological diseases associated with the restless legs syndrome].

Bartl M, Winkelmann J, Högl B, Paulus W, Trenkwalder C.

Nervenarzt. 2018 Oct;89(10):1156-1164. doi: 10.1007/s00115-018-0528-y. Review. German.

PMID:
29736677
20.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

PMID:
29724592
21.

In vivo broadband visible light optical coherence tomography probe enables inverse spectroscopic analysis.

Winkelmann JA, Eid A, Nguyen TQ, Bui T, Yi J, Backman V.

Opt Lett. 2018 Feb 1;43(3):619-622. doi: 10.1364/OL.43.000619.

PMID:
29400855
22.

Simulation and observation of line-slip structures in columnar structures of soft spheres.

Winkelmann J, Haffner B, Weaire D, Mughal A, Hutzler S.

Phys Rev E. 2017 Jul;96(1-1):012610. doi: 10.1103/PhysRevE.96.012610. Epub 2017 Jul 31. Erratum in: Phys Rev E. 2017 Jul;97(5-2):059902.

PMID:
29347149
23.

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

Zech M, Poustka K, Boesch S, Berutti R, Strom TM, Grisold W, Poewe W, Winkelmann J.

Case Rep Genet. 2017;2017:2721615. doi: 10.1155/2017/2721615. Epub 2017 Oct 29.

24.

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).

Jochim A, Li Y, Zech M, Lam D, Gross N, Koch K, Zimmer C, Winkelmann J, Haslinger B.

Parkinsonism Relat Disord. 2018 Jan;46:74-78. doi: 10.1016/j.parkreldis.2017.10.008. Epub 2017 Oct 14.

PMID:
29066004
25.

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B, Winkelmann J; 23andMe Research Team; DESIR study group.

Lancet Neurol. 2017 Nov;16(11):898-907. doi: 10.1016/S1474-4422(17)30327-7. Review.

26.

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J.

Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24.

PMID:
28862745
27.

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J.

Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28.

PMID:
28849312
28.

Sleep disturbance by pramipexole is modified by Meis1 in mice.

Salminen AV, Schormair B, Flachskamm C, Torres M, Müller-Myhsok B, Kimura M, Winkelmann J.

J Sleep Res. 2018 Aug;27(4):e12557. doi: 10.1111/jsr.12557. Epub 2017 Jul 11.

PMID:
28695622
29.

Meis1: effects on motor phenotypes and the sensorimotor system in mice.

Salminen AV, Garrett L, Schormair B, Rozman J, Giesert F, Niedermeier KM, Becker L, Rathkolb B, Rácz I; German Mouse Clinic Consortium, Klingenspor M, Klopstock T, Wolf E, Zimmer A, Gailus-Durner V, Torres M, Fuchs H, Hrabě de Angelis M, Wurst W, Hölter SM, Winkelmann J.

Dis Model Mech. 2017 Aug 1;10(8):981-991. doi: 10.1242/dmm.030080. Epub 2017 Jun 23.

30.

Ferric carboxymaltose in patients with restless legs syndrome and nonanemic iron deficiency: A randomized trial.

Trenkwalder C, Winkelmann J, Oertel W, Virgin G, Roubert B, Mezzacasa A; FCM-RLS Study Investigators.

Mov Disord. 2017 Oct;32(10):1478-1482. doi: 10.1002/mds.27040. Epub 2017 Jun 23.

31.

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.

Hammerschlag AR, Stringer S, de Leeuw CA, Sniekers S, Taskesen E, Watanabe K, Blanken TF, Dekker K, Te Lindert BHW, Wassing R, Jonsdottir I, Thorleifsson G, Stefansson H, Gislason T, Berger K, Schormair B, Wellmann J, Winkelmann J, Stefansson K, Oexle K, Van Someren EJW, Posthuma D.

Nat Genet. 2017 Nov;49(11):1584-1592. doi: 10.1038/ng.3888. Epub 2017 Jun 12.

32.

KMT2B rare missense variants in generalized dystonia.

Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J.

Mov Disord. 2017 Jul;32(7):1087-1091. doi: 10.1002/mds.27026. Epub 2017 May 18.

PMID:
28520167
33.

The former Yugoslav Republic of Macedonia: Health System Review.

Milevska Kostova N, Chichevalieva S, Ponce NA, van Ginneken E, Winkelmann J.

Health Syst Transit. 2017 May;19(3):1-160.

34.

MEIS1 variant as a determinant of autonomic imbalance in Restless Legs Syndrome.

Thireau J, Farah C, Molinari N, Bouilloux F, Torreilles L, Winkelmann J, Scholz S, Richard S, Dauvilliers Y, Marmigère F.

Sci Rep. 2017 Apr 20;7:46620. doi: 10.1038/srep46620.

35.

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.

Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Hölter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D.

Acta Neuropathol. 2017 Aug;134(2):241-254. doi: 10.1007/s00401-017-1711-0. Epub 2017 Apr 13.

36.

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum.

Rothwell S, Cooper RG, Lundberg IE, Gregersen PK, Hanna MG, Machado PM, Herbert MK, Pruijn GJM, Lilleker JB, Roberts M, Bowes J, Seldin MF, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Platt H, Molberg Ø, Benveniste O, Radstake TRDJ, Doria A, De Bleecker J, De Paepe B, Gieger C, Meitinger T, Winkelmann J, Amos CI, Ollier WE, Padyukov L, Lee AT, Lamb JA, Chinoy H; Myositis Genetics Consortium.

Arthritis Rheumatol. 2017 May;69(5):1090-1099. doi: 10.1002/art.40045. Epub 2017 Apr 4.

37.

Genetics of restless legs syndrome.

Winkelmann J, Schormair B, Xiong L, Dion PA, Rye DB, Rouleau GA.

Sleep Med. 2017 Mar;31:18-22. doi: 10.1016/j.sleep.2016.10.012. Epub 2016 Nov 12.

PMID:
28065402
38.

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP.

Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 4.

PMID:
28054173
39.

Introduction: Towards a better understanding of the science of RLS/WED.

Garcia Borreguero D, Winkelmann J, Allen RP.

Sleep Med. 2017 Mar;31:1-2. doi: 10.1016/j.sleep.2016.10.007. Epub 2016 Oct 28. No abstract available.

PMID:
27894926
40.

Animal models of RLS phenotypes.

Allen RP, Donelson NC, Jones BC, Li Y, Manconi M, Rye DB, Sanyal S, Winkelmann J.

Sleep Med. 2017 Mar;31:23-28. doi: 10.1016/j.sleep.2016.08.002. Epub 2016 Sep 2. Review.

41.

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J.

Am J Hum Genet. 2016 Dec 1;99(6):1377-1387. doi: 10.1016/j.ajhg.2016.10.010. Epub 2016 Nov 10.

42.

Genome-wide association study in essential tremor identifies three new loci.

Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA.

Brain. 2016 Dec;139(Pt 12):3163-3169. Epub 2016 Oct 20.

43.

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J.

Mov Disord. 2017 Apr;32(4):549-559. doi: 10.1002/mds.26808. Epub 2016 Sep 26.

PMID:
27666935
44.

A TRAPPC6B splicing variant associates to restless legs syndrome.

Aridon P, De Fusco M, Winkelmann JW, Zucconi M, Arnao V, Ferini-Strambi L, Casari G.

Parkinsonism Relat Disord. 2016 Oct;31:135-138. doi: 10.1016/j.parkreldis.2016.08.016. Epub 2016 Aug 18.

PMID:
27569842
45.

Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, Gieger C, Mueller J, Messner M, Ceballos-Baumann A, Poewe W, Haslinger B, Winkelmann J.

Parkinsonism Relat Disord. 2016 Oct;31:119-123. doi: 10.1016/j.parkreldis.2016.07.013. Epub 2016 Jul 25.

PMID:
27477622
46.

Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: a combined task force of the IRLSSG, EURLSSG, and the RLS-foundation.

Garcia-Borreguero D, Silber MH, Winkelman JW, Högl B, Bainbridge J, Buchfuhrer M, Hadjigeorgiou G, Inoue Y, Manconi M, Oertel W, Ondo W, Winkelmann J, Allen RP.

Sleep Med. 2016 May;21:1-11. doi: 10.1016/j.sleep.2016.01.017. Epub 2016 Feb 23.

47.

Predictors of social leisure activities in older Europeans with and without multimorbidity.

Galenkamp H, Gagliardi C, Principi A, Golinowska S, Moreira A, Schmidt AE, Winkelmann J, Sowa A, van der Pas S, Deeg DJ.

Eur J Ageing. 2016;13:129-143. Epub 2016 May 4.

48.

Programmed death 1 immune checkpoint inhibitors.

Trivedi MS, Hoffner B, Winkelmann JL, Abbott ME, Hamid O, Carvajal RD.

Clin Adv Hematol Oncol. 2015 Dec;13(12):858-68. Review.

PMID:
27058852
49.

Restless legs syndrome associated with major diseases: A systematic review and new concept.

Trenkwalder C, Allen R, Högl B, Paulus W, Winkelmann J.

Neurology. 2016 Apr 5;86(14):1336-1343. doi: 10.1212/WNL.0000000000002542. Epub 2016 Mar 4. Review.

50.

Alterations in Lipid and Inositol Metabolisms in Two Dopaminergic Disorders.

Schulte EC, Altmaier E, Berger HS, Do KT, Kastenmüller G, Wahl S, Adamski J, Peters A, Krumsiek J, Suhre K, Haslinger B, Ceballos-Baumann A, Gieger C, Winkelmann J.

PLoS One. 2016 Jan 25;11(1):e0147129. doi: 10.1371/journal.pone.0147129. eCollection 2016.

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