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          Institute: MPI für Biochemie     Collection: Molecular Medicine (R. Fässler)     Display Documents

ID: 261730.0, MPI für Biochemie / Molecular Medicine (R. Fässler)
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
Authors:Senderek, J.; Krieger, M.; Stendel, C.; Bergmann, C.; Moser, M.; Breitbach-Faller, N.; Rudnik-Schoneborn, S.; Blaschek, A.; Wolf, N. I.; Harting, I.; North, K.; Smith, J.; Muntoni, F.; Brockington, M.; Quijano-Roy, S.; Renault, F.; Herrmann, R.; Hendershot, L. M.; Schroder, J. M.; Lochmuller, H.; Topaloglu, H.; Voit, T.; Weis, J.; Ebinger, F.; Zerres, K.
Date of Publication (YYYY-MM-DD):2005-12
Title of Journal:Nature Genetics
Journal Abbrev.:Nature Genet.
Issue / Number:12
Start Page:1312
End Page:1314
Review Status:Peer-review
Audience:Not Specified
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Affiliations:MPI für Biochemie/Molecular Medicine (R. Fässler)/Research Group Moser
External Affiliations:Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany.; Esslingen Community Hosp, Dept Pediat, Esslingen, Germany.; Univ Heidelberg, Childrens Hosp, Dept Pediat, D-6900 Heidelberg, Germany.; Univ Heidelberg, Dept Neuroradiol, Heidelberg, Germany.; Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW, Australia.; Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London, England.; Hop Ray Poincare, Serv Pediat, Garches, France.; Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75634 Paris, France.; Hop Enfants Armand Trousseau, Unite Neurophysiol, Paris, France.; Univ Hosp Essen, Dept Pediat & Pediat Neurol, Essen, Germany.; St Jude Childrens Hosp, Dept Genet & Tumor Cell Biol, Memphis, TN 38105 USA.; Rhein Westfal TH Aachen, Dept Neuropathol, Aachen, Germany.; Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany.; Hacettepe Univ, Dept Pediat Neurol, Ankara, Turkey.
Identifiers:ISI:000233657300007 [ID No:1]
ISSN:1061-4036 [ID No:2]
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