Ataxie mit okulomotorischer Apraxie Typ 2: Charakterisierung des ...

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9. Lebenslauf
Veröffentlichungen
Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C. (2009) Exon
deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC
Medical Genetics 10:87
Bernard V, Stricker S, Kreuz F, Minnerop M, Gillessen-Kaesbach G, Zühlke C. (2008)
Ataxia with oculomotor apraxia type 2: Novel mutations in six patients with juvenile age
of onset and elevated serum -fetoprotein. Neuropediatrics 39:347-350
Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach
G, Zühlke C. (2009) Missense exchanges in the TTBK2 gene mutated in SCA11. Journal
of Neurology 256(11):1856-9
Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V,
Gillessen-Kaesbach G, Zühlke C. (2010) Early onset and slow progression of SCA28, a
rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur
J Hum Genet. [Epub ahead of print]
Hellenbroich Y, Bernard V, Zühlke C. (2008) Spinocerebellar ataxia type 4 and 16q22.1-
linked Japanese ataxia are not allelic. Journal of Neurology 255(4):612-3
Zühlke C, Bernard V, Gillessen-Kaesbach G. (2007a) Investigation of recessive ataxia
loci in patients with young age of onset. Neuropediatrics 38:207-209
Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-Kaesbach G, Bürk
K.(2007b) Screening of the SPTBN2 (SCA5) gene in German SCA patients. Journal of
Neurology 254(12):1649-1652