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Open Access
Peer-reviewed
Research Article
Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer’s Disease Patients Alter Calcium Homeostasis
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Fanny Rubio-Moscardo ,
Contributed equally to this work with: Fanny Rubio-Moscardo, Núria Setó-Salvia
Affiliation Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain
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Núria Setó-Salvia ,
Contributed equally to this work with: Fanny Rubio-Moscardo, Núria Setó-Salvia
Affiliation Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain
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Marta Pera,
Affiliation Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain
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Mònica Bosch-Morató,
Affiliation Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain
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Cristina Plata,
Affiliation Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain
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Olivia Belbin,
Affiliations Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain, CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain
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Gemma Gené,
Affiliation Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain
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Oriol Dols-Icardo,
Affiliations Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain, CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain
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Martin Ingelsson,
Affiliation Department of Public Health, Geriatrics, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
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Seppo Helisalmi,
Affiliation Institute of Clinical Medicine – Neurology, University of Eastern Finland and the Department of Neurology, Kuopio University Hospital, Kuopio, Finland
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Hilkka Soininen,
Affiliation Institute of Clinical Medicine – Neurology, University of Eastern Finland and the Department of Neurology, Kuopio University Hospital, Kuopio, Finland
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Mikko Hiltunen,
Affiliation Institute of Clinical Medicine – Neurology, University of Eastern Finland and the Department of Neurology, Kuopio University Hospital, Kuopio, Finland
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Vilmantas Giedraitis,
Affiliation Department of Public Health, Geriatrics, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
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Lars Lannfelt,
Affiliation Department of Public Health, Geriatrics, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
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Ana Frank,
Affiliations CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain, Institute of Sanitary Research “Hospital la Paz” (IdIPaz), Madrid, Spain
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MªJesús Bullido,
Affiliations CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain, Institute of Sanitary Research “Hospital la Paz” (IdIPaz), Madrid, Spain, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain
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Onofre Combarros,
Affiliations CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain, Neurology Service, University Hospital Marqués de Valdecilla (University of Cantabria and IFIMAV), Santander, Spain
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Pascual Sánchez-Juan,
Affiliations CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain, Neurology Service, University Hospital Marqués de Valdecilla (University of Cantabria and IFIMAV), Santander, Spain
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Mercè Boada,
Affiliations Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain, Hospital Universitari Vall d’Hebron, Institut de Recerca, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain
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Lluís Tárraga,
Affiliation Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain
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Pau Pastor,
Affiliations CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain, Neurogenetics Laboratory, Division of Neurociences, Center for Applied Medical Research (CIMA) University of Navarra Medical School, Pamplona, Spain
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Jordi Pérez-Tur,
Affiliations CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain, Institut de Biomedicina de Valencia-CSIC, Valencia, Spain
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Miquel Baquero,
Affiliation Neurology Department, Hospital Universitario “La Fe”, Valencia, Spain
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José L. Molinuevo,
Affiliation Neurology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain
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Raquel Sánchez-Valle,
Affiliation Neurology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain
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Pablo Fuentes-Prior,
Affiliation Molecular Basis of Diseases Unit, IIB-Sant Pau, Hospital de la Santa Creu i Sant, Pau, Barcelona, Spain
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Juan Fortea,
Affiliations Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain, CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain
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Rafael Blesa,
Affiliations Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain, CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain
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Francisco J. Muñoz,
Affiliation Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain
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Alberto Lleó,
Affiliations Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain, CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain
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Miguel A. Valverde ,
* E-mail: jclarimon@santpau.cat (JC); miguel.valverde@upf.edu (MAV)
Affiliation Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain
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Jordi Clarimón
* E-mail: jclarimon@santpau.cat (JC); miguel.valverde@upf.edu (MAV)
Affiliations Memory Unit, Neurology Department, Hospital de Sant Pau (Sant Pau Biomedical Research Institute), Universitat Autònoma de Barcelona, Barcelona, Spain, CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain
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Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer’s Disease Patients Alter Calcium Homeostasis
- Fanny Rubio-Moscardo,
- Núria Setó-Salvia,
- Marta Pera,
- Mònica Bosch-Morató,
- Cristina Plata,
- Olivia Belbin,
- Gemma Gené,
- Oriol Dols-Icardo,
- Martin Ingelsson,
- Seppo Helisalmi
- Published: September 17, 2013
- https://doi.org/10.1371/journal.pone.0074203