Journal article
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
Sabine Rudnik-Schoeneborn, Jan Senderek, Joanna C Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerova, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Juergen Seeger, Monique M Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Huebner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff Show all
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2013
Grants
Awarded by Deutsche Forschungsgemeinschaft
Awarded by IZKF Biomat
Awarded by Bioinformatics and Genomics Core of the UCLA Muscular Dystrophy Core Center within the Center for Duchenne Muscular Dystrophy
Awarded by NEI
Awarded by NINDS
Awarded by IGA MH NS
Awarded by NATIONAL EYE INSTITUTE
Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Awarded by Medical Research Council
Awarded by Rosetrees Trust
Awarded by Muscular Dystrophy UK
Funding Acknowledgements
Supported by the Deutsche Forschungsgemeinschaft (RU 746/1-1) for S.R.-S. and K.Z. and by IZKF Biomat (project N5-4) for S.R.-S. and J.S. The genotyping and analytical work was supported by the Bioinformatics and Genomics Core of the UCLA Muscular Dystrophy Core Center (NIH/NIAMS P30AR057230 to S.F.N.) within the Center for Duchenne Muscular Dystrophy. Also supported by NEI EY015311 and NINDS NS064183 (J.C. J.). P.S. is supported by IGA MH NS 11523-4. F.M. is supported by the Great Ormond Street Children's Charity.