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Alice Steinbrecher
Researcher at Free University of Berlin
Publications - 10
Citations - 1296
Alice Steinbrecher is an academic researcher from Free University of Berlin. The author has contributed to research in topics: Walker–Warburg syndrome & Congenital muscular dystrophy. The author has an hindex of 7, co-authored 10 publications receiving 1259 citations. Previous affiliations of Alice Steinbrecher include University of Duisburg-Essen & Pierre-and-Marie-Curie University.
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Journal ArticleDOI
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé,Sophie Currier,Alice Steinbrecher,Jacopo Celli,Ellen van Beusekom,Bert van der Zwaag,Hülya Kayserili,Luciano Merlini,David Chitayat,William B. Dobyns,Bru Cormand,Ana Elina Lehesjoki,Jesús Cruces,Thomas Voit,Christopher A. Walsh,Hans van Bokhoven,Han G. Brunner +16 more
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
Journal ArticleDOI
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
D. Beltran Valero de Bernabe,Thomas Voit,Cheryl Longman,Alice Steinbrecher,Volker Straub,Y Yuva,R. Herrmann,J. Sperner,C.G. Korenke,C. Diesen,William B. Dobyns,H.G. Brunner,J.H.L.M. van Bokhoven,Martin Brockington,Francesco Muntoni +14 more
TL;DR: The hypoglycosylation of α-dystroglycan is a new disease mechanism recently identified in four congenital muscular dystrophies (CMDs) and a similar combination of muscular dystrophy and cobblestone lissencephaly is also found in the myodystrophy mouse, in which the Large gene is mutated.
Journal ArticleDOI
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
Kiyomi Taniguchi,Kazuhiro Kobayashi,Kayoko Saito,Hideo Yamanouchi,Akira Ohnuma,Yukiko K. Hayashi,Hiroshi Manya,Dong Kyu Jin,Munhyang Lee,Enrico Parano,Raffaele Falsaperla,Piero Pavone,Rudy Van Coster,Beril Talim,Alice Steinbrecher,Volker Straub,Ichizo Nishino,Haluk Topaloglu,Thomas Voit,Tamao Endo,Tatsushi Toda +20 more
TL;DR: The identification of seven novel disease-causing mutations in six of not only non-Finnish Caucasian but also Japanese and Korean patients with suspected MEB, severe FCMD or WWS indicate that MEB may exist in population groups outside of Finland, and that the clinical spectrum of MEB is broader than recognized previously.
Journal ArticleDOI
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Jeroen van Reeuwijk,Prabhjit K. Grewal,Prabhjit K. Grewal,Mustafa A. Salih,Daniel Beltrán-Valero de Bernabé,Daniel Beltrán-Valero de Bernabé,Jenny M. McLaughlan,Caroline B. Michielse,Caroline B. Michielse,Ralf Herrmann,Jane E. Hewitt,Alice Steinbrecher,Mohamed Z. Seidahmed,Mohamed M. Shaheed,Abdullah Abomelha,Han G. Brunner,Hans van Bokhoven,Thomas Voit +17 more
TL;DR: A 63-kb intragenic LARGE deletion in a family with Walker-Warburg syndrome (WWS), which is characterized by CMD, and severe structural brain and eye malformations, demonstrates that LARGE gene mutations can give rise to a wide clinical spectrum, similar to other genes that have a role in the post-translational modification of the α-dystroglycan protein.
Journal ArticleDOI
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
Sebahattin Cirak,Florian von Deimling,Shrikesh Sachdev,Wesley J. Errington,Wesley J. Errington,Ralf Herrmann,Carsten G. Bönnemann,Knut Brockmann,Stephan Hinderlich,Tom H. Lindner,Alice Steinbrecher,Katrin Hoffmann,Katrin Hoffmann,Gilbert G. Privé,Gilbert G. Privé,Mark Hannink,Peter Nürnberg,Thomas Voit +17 more
TL;DR: A unique form of early onset autosomal dominant distal myopathy which is associated with a Kelch-like homologue 9 mutation and interferes with normal skeletal muscle through a novel pathogenetic mechanism is identified.