M
Maria Josep Coll
Researcher at University of Barcelona
Publications - 39
Citations - 1407
Maria Josep Coll is an academic researcher from University of Barcelona. The author has contributed to research in topics: Mutation & Gene. The author has an hindex of 20, co-authored 39 publications receiving 1200 citations. Previous affiliations of Maria Josep Coll include Carlos III Health Institute.
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Journal ArticleDOI
Consensus clinical management guidelines for Niemann-Pick disease type C.
Tarekegn Geberhiwot,Alessandro Moro,Andrea Dardis,Uma Ramaswami,Sandra Sirrs,Mercedes Pineda Marfa,Marie T. Vanier,Mark Walterfang,Shaun Bolton,Charlotte Dawson,Bénédicte Héron,Miriam Stampfer,Jackie Imrie,Christian J. Hendriksz,Paul Gissen,Ellen Crushell,Maria Josep Coll,Yann Nadjar,Hans H. Klünemann,Eugen Mengel,M. Hrebicek,Simon Jones,Daniel S. Ory,Bruno Bembi,Marc C. Patterson +24 more
TL;DR: Clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients are developed that can inform care providers, care funders, patients and their carers of best practice of care.
Journal ArticleDOI
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.
TL;DR: In this series, splenomegaly is present in 96% of patients, even in late onset forms during the first years of life, and a disability scale could be useful for monitoring evolution, establishing possible phenotypic correlations and evaluating future therapies.
Journal ArticleDOI
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Marie T. Vanier,Paul Gissen,Paul Gissen,Peter Bauer,Maria Josep Coll,Alberto Burlina,Christian J. Hendriksz,Christian J. Hendriksz,Philippe Latour,Cyril Goizet,Richard W. D. Welford,Thorsten Marquardt,Stefan A. Kolb +12 more
TL;DR: Advances in mass spectrometry has allowed identification of several sensitive plasma biomarkers elevated in NP-C, which, together with the concomitant progress in molecular genetic technology, have greatly impacted the strategy of laboratory testing.
Journal ArticleDOI
Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cells.
Oriol Bachs,L Lanini,Joan Serratosa,Maria Josep Coll,Ricardo Bastos,Rosa Aligué,Eulàlia Rius,E Carafoli +7 more
TL;DR: Pro Proliferative activation of rat liver cells in vivo by partial hepatectomy induces the increase of alpha-spectrin, MLCK, and actin in different nuclear subfractions which indicates that nuclear calmodulin could activate a nuclear contractile system during proliferative activation.
Journal ArticleDOI
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
E.M. Fernández-Valero,A Ballart,C. Iturriaga,M Lluch,J Macias,Marie T. Vanier,Mercedes Pineda,Maria Josep Coll +7 more
TL;DR: The authors' data in homozygous patients indicate that the Q775P mutation correlates with a severe infantile neurological form and the C177Y mutation with a late infantile clinical phenotype, suggesting a unique origin for these mutations.