Alvarez-Fischer D - Search Results

1

Biallelic MYORG mutations: Primary familial brain calcification goes recessive.

Alvarez-Fischer D, Westenberger A. Alvarez-Fischer D, et al. Mov Disord. 2019 Mar;34(3):322. doi: 10.1002/mds.27629. Epub 2019 Jan 24. Mov Disord. 2019. PMID: 30675931 No abstract available.

2

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. Tadic V, et al. JAMA Neurol. 2015 Apr;72(4):460-7. doi: 10.1001/jamaneurol.2014.3889. JAMA Neurol. 2015. PMID: 25686319 Review.

3

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. Grütz K, et al. Mov Disord. 2016 Dec;31(12):1901-1904. doi: 10.1002/mds.26768. Epub 2016 Sep 27. Mov Disord. 2016. PMID: 27671522

4

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. Schiemenz C, et al. Brain. 2020 Jan 1;143(1):e1. doi: 10.1093/brain/awz351. Brain. 2020. PMID: 31754706 No abstract available.

5

Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.

Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A. Balck A, et al. Among authors: alvarez fischer d. Mov Disord. 2021 Nov;36(11):2468-2480. doi: 10.1002/mds.28753. Epub 2021 Aug 25. Mov Disord. 2021. PMID: 34432325 Review.

6

Don't do harm by diagnosis - An abnormal cranial CT: Still fa(h)r from a disease.

Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D. Balck A, et al. Parkinsonism Relat Disord. 2020 Jun;75:116-118. doi: 10.1016/j.parkreldis.2020.02.016. Parkinsonism Relat Disord. 2020. PMID: 32762896 No abstract available.

7

Transgenerational transduction of MPTP-induced alterations in a Parkinson's disease mouse model.

Alvarez-Fischer D, Vernik T, Vulinovic F, Herrmann A, Westenberger A, Klein C. Alvarez-Fischer D, et al. Parkinsonism Relat Disord. 2020 Oct;79:88-90. doi: 10.1016/j.parkreldis.2020.08.017. Epub 2020 Aug 14. Parkinsonism Relat Disord. 2020. PMID: 32906083

8

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.

Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J. Reyes CJ, et al. Among authors: alvarez fischer d. Neurol Genet. 2021 Jul 6;7(4):e608. doi: 10.1212/NXG.0000000000000608. eCollection 2021 Aug. Neurol Genet. 2021. PMID: 34250228 Free PMC article.

9

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.

Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P. Vulinovic F, et al. Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17. Hum Mutat. 2014. PMID: 24931141

10

The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.

Winkler S, Vollstedt EJ, Kasten M, Alvarez-Fischer D, Klein C, Lohmann K. Winkler S, et al. J Neurol. 2014 Apr;261(4):833-4. doi: 10.1007/s00415-014-7306-y. Epub 2014 Mar 9. J Neurol. 2014. PMID: 24609975 No abstract available.

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