| Literature DB >> 24827497 |
Andrea Cortese1, Arianna Tucci2, Giovanni Piccolo2, Carlo A Galimberti2, Pietro Fratta2, Enrico Marchioni2, Gianpiero Grampa2, Cristina Cereda2, Gaetano Grieco2, Ivana Ricca2, Alan Pittman2, Patrizia Ciscato2, Laura Napoli2, Valeria Lucchini2, Michela Ripolone2, Raffaella Violano2, Gigliola Fagiolari2, Sara E Mole2, John Hardy2, Arrigo Moglia2, Maurizio Moggio2.
1. From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy. andrea.cortese@mondino.it.
2. From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.
Abstract
Entities:
Mesh:
Adult
Autophagy/genetics
Cardiomyopathy, Hypertrophic/genetics
Cardiomyopathy, Hypertrophic/pathology
Cognitive Dysfunction/genetics
Cognitive Dysfunction/pathology
Epilepsy/genetics
Epilepsy/pathology
Humans
Male
Membrane Glycoproteins/genetics
Middle Aged
Molecular Chaperones/genetics
Mutation
Retinitis Pigmentosa/genetics
Retinitis Pigmentosa/pathology
Vacuoles/genetics
Vacuoles/pathology
Substances:
CLN3 protein, human
Membrane Glycoproteins
Molecular Chaperones
Year: 2014 PMID: 24827497 PMCID: PMC4118497 DOI: 10.1212/WNL.0000000000000490
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910