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Items: 33

1.

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 Apr 11. doi: 10.1002/mds.27352. [Epub ahead of print] Review.

PMID:
29644727
2.

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A.

Neurol Genet. 2018 Mar 27;4(2):e227. doi: 10.1212/NXG.0000000000000227. eCollection 2018 Apr. No abstract available.

3.

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.

Dobričić V, Tomić A, Branković V, Kresojević N, Janković M, Westenberger A, Rašić VM, Klein C, Novaković I, Svetel M, Kostić VS.

Parkinsonism Relat Disord. 2017 Dec;45:81-84. doi: 10.1016/j.parkreldis.2017.09.017. Epub 2017 Sep 18.

PMID:
28958832
4.

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.

Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T.

Parkinsonism Relat Disord. 2017 Jul;40:73-75. doi: 10.1016/j.parkreldis.2017.04.013. Epub 2017 Apr 20.

PMID:
28442302
5.

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.

6.

Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.

Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D.

Parkinsonism Relat Disord. 2017 Apr;37:43-49. doi: 10.1016/j.parkreldis.2017.01.006. Epub 2017 Jan 10.

PMID:
28094105
7.

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
8.

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.

Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C.

J Pediatr. 2017 Feb;181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6.

PMID:
27931826
9.

Reply letter to "ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity".

Fung VS, Chang FC, Westenberger A, Klein C.

Mov Disord. 2017 Feb;32(2):306. doi: 10.1002/mds.26881. Epub 2016 Dec 1. No abstract available.

PMID:
27905127
10.

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
11.

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A.

Mov Disord. 2016 Dec;31(12):1901-1904. doi: 10.1002/mds.26768. Epub 2016 Sep 27.

PMID:
27671522
12.

Phenotypic insights into ADCY5-associated disease.

Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS.

Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.

13.

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.

Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A.

Cell Mol Life Sci. 2016 Aug;73(16):3205-15. doi: 10.1007/s00018-016-2159-4. Epub 2016 Feb 15.

PMID:
26879577
14.

RAB39B mutations are a rare finding in Parkinson disease patients.

Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K.

Parkinsonism Relat Disord. 2016 Feb;23:116-7. doi: 10.1016/j.parkreldis.2015.12.014. Epub 2015 Dec 22. No abstract available.

PMID:
26739247
15.

The evolving spectrum of PRRT2-associated paroxysmal diseases.

Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C.

Brain. 2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23. Review.

PMID:
26598493
16.

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

Dobričić V, Kresojević N, Žarković M, Tomić A, Marjanović A, Westenberger A, Cvetković D, Svetel M, Novaković I, Kostić VS.

Parkinsonism Relat Disord. 2015 Oct;21(10):1256-9. doi: 10.1016/j.parkreldis.2015.08.001. Epub 2015 Aug 10.

PMID:
26297380
17.

A new gene for primary familial brain calcification: The importance of phosphate homeostasis.

Westenberger A, Klein C.

Mov Disord. 2015 Aug;30(9):1213. doi: 10.1002/mds.26328. Epub 2015 Jul 21. No abstract available.

PMID:
26195350
18.

Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease.

Weissbach A, Bäumer T, Rosales R, Lee LV, Brüggemann N, Domingo A, Westenberger A, Jamora RD, Diesta CC, Brandt V, Tadic V, Zittel S, Klein C, Münchau A.

Mov Disord. 2015 May;30(6):873-5. doi: 10.1002/mds.26224. Epub 2015 Apr 25. No abstract available.

PMID:
25914216
19.

Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M.

JAMA Neurol. 2015 Apr;72(4):460-7. doi: 10.1001/jamaneurol.2014.3889. Review.

PMID:
25686319
20.

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C.

Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21.

21.

Novel GNAL mutations in two German patients with sporadic dystonia.

Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C.

Mov Disord. 2014 Dec;29(14):1833-4. doi: 10.1002/mds.26066. Epub 2014 Nov 7. No abstract available.

PMID:
25382112
22.

X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration.

Domingo A, Schmidt TG, Barcelon E, Lukban M, Westenberger A, Klein C.

J Neurol. 2014 Nov;261(11):2225-7. doi: 10.1007/s00415-014-7483-8. Epub 2014 Oct 1. No abstract available.

PMID:
25270678
23.

The genetics of primary familial brain calcifications.

Westenberger A, Klein C.

Curr Neurol Neurosci Rep. 2014 Oct;14(10):490. doi: 10.1007/s11910-014-0490-4. Review.

PMID:
25212438
24.

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RD, Rosales RL, Klein C, Westenberger A.

JAMA Neurol. 2014 Sep;71(9):1177-80. doi: 10.1001/jamaneurol.2014.56.

PMID:
25004170
25.

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E.

Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7.

26.

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.

Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, Ralić V, Petrović I, Lukić MJ, Lohmann K, Novaković I, Klein C, Kostić VS.

Mov Disord. 2014 Aug;29(9):1190-3. doi: 10.1002/mds.25876. Epub 2014 Apr 13.

PMID:
24729450
27.

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A.

JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677.

28.

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C.

Mov Disord. 2014 Jun;29(7):921-7. doi: 10.1002/mds.25791. Epub 2013 Dec 26.

PMID:
24375517
29.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR.

Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

PMID:
23913003
30.

Mortalin mutations are not a frequent cause of early-onset Parkinson disease.

Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A.

Neurobiol Aging. 2013 Nov;34(11):2694.e19-20. doi: 10.1016/j.neurobiolaging.2013.05.021. Epub 2013 Jul 5.

PMID:
23831374
31.

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP.

Curr Neuropharmacol. 2013 Jan;11(1):59-79. doi: 10.2174/157015913804999469.

32.

X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.

Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C.

Mov Disord. 2013 May;28(5):675-8. doi: 10.1002/mds.25369. Epub 2013 Feb 6.

PMID:
23389859
33.

Genetics of Parkinson's disease.

Klein C, Westenberger A.

Cold Spring Harb Perspect Med. 2012 Jan;2(1):a008888. doi: 10.1101/cshperspect.a008888. Review.

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