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Items: 3

1.

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
2.

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.

3.

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.

Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S.

J Clin Neurol. 2017 Jul;13(3):303-305. doi: 10.3988/jcn.2017.13.3.303. Epub 2017 May 15. No abstract available.

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