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Items: 12

1.

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

Bally JF, Breen DP, Schaake S, Trinh J, Rakovic A, Klein C, Lang AE.

Parkinsonism Relat Disord. 2020 Jan 30;71:44-45. doi: 10.1016/j.parkreldis.2020.01.017. [Epub ahead of print]

PMID:
32018151
2.

Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.

Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrahrou Z, Erdmann J, Klein C, Alvarez-Fischer D.

Brain. 2020 Jan 1;143(1):e1. doi: 10.1093/brain/awz351. No abstract available.

PMID:
31754706
3.

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
4.

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
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 Sep;54:116-118. doi: 10.1016/j.parkreldis.2018.04.001. Epub 2018 Apr 3. 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.

PMID:
29644727
7.

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.

8.

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.

9.

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
10.

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.

11.

Mutations in TUBB4A and spastic paraplegia.

Kumar KR, Vulinovic F, Lohmann K, Park JS, Schaake S, Sue CM, Klein C.

Mov Disord. 2015 Nov;30(13):1857-8. doi: 10.1002/mds.26444. Epub 2015 Oct 19. No abstract available.

PMID:
26477786
12.

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

Nibbeling E, Schaake S, Tijssen MA, Weissbach A, Groen JL, Altenmüller E, Verbeek DS, Lohmann K.

J Neurol. 2015 May;262(5):1340-3. doi: 10.1007/s00415-015-7718-3. Epub 2015 Apr 1.

PMID:
25825126

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