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Items: 5

1.

Teaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome.

Borngräber F, Peng Y, Ostendorf F, Kühn AA, Ganos C.

Neurology. 2019 Sep 10;93(11):e1125-e1126. doi: 10.1212/WNL.0000000000008109. No abstract available.

PMID:
31501314
2.

Personality profiles are different in musician's dystonia and other isolated focal dystonias.

Steinlechner S, Jabusch HC, Altenmüller E, Borngräber F, Hagenah J, Klein C, Lencer R, Schmidt A.

Psychiatry Res. 2018 Aug;266:26-29. doi: 10.1016/j.psychres.2018.05.017. Epub 2018 May 7.

PMID:
29800777
3.

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.

Kübler D, Borngräber F, Lohmann K, Kühn AA.

J Clin Neurosci. 2018 Apr;50:131-132. doi: 10.1016/j.jocn.2018.01.055. Epub 2018 Feb 21.

PMID:
29429788
4.

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.

5.

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

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