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.