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Articles, 2 records found
Articles 2 records found  
1.
9 p, 359.6 KB The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations / Rodríguez Cruz, Pedro M. (John Radcliffe Hospital (Oxford, Regne Unit)) ; Cossins, Judith (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; De Paula Estephan, Eduardo (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Selby, KKathryn (University of British Columbia) ; Hirano, Michio (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Maroofin, Reza (Molecular and Clinical Sciences Institute. St. George's. University of London) ; Mehrjardi, Mohammad Yahya Vahid (Medical Genetics Research Centre. Shahid Sadoughi University of Medical Sciences) ; Chow, Gabriel (Nottingham University Hospitals NHS Trust (Regne Unit)) ; Carr, Aislin (MRC Centre for Neuromuscular Diseases. National Hospital for Neurology and Neurosurgery) ; Manzur, Adnan (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Robb, Stephanie (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Munot, Pinki (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Wei Liu, Wei (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Banka, Siddharth (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; Fraser, Harry (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; De Goede, Christian (Department of Paediatric Neurology. Royal Preston Hospital) ; Zanoteli, Edmar (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Conti Reed, Umbertina (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Sage, Abigail (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Gratacòs-Viñola, Margarida (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dusl, Marina (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Senderek, Jan (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Töpf, Ana (Institute of Genetic Medicine) ; Hofer, Monika (John Radcliffe Hospital (Oxford, Regne Unit)) ; Knight, Ravi (John Radcliffe Hospital (Oxford, Regne Unit)) ; Ramdas, Sithara (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Jayawant, Sandeep (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Lochmüller, Hans (Division of Neurology. Department of Medicine. Ottawa Hospital) ; Palace, Jacqueline (John Radcliffe Hospital (Oxford, Regne Unit)) ; Beeson, David (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Universitat Autònoma de Barcelona
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. [...]
2019 - 10.1093/brain/awz107
Brain, Vol. 142 Núm. 6 (january 2019) , p. 1547-1560  
Detailed record - Creative Commons
2.
12 p, 1.2 MB Glucocorticoid Receptors, Brain-Derived Neurotrophic Factor, Serotonin and Dopamine Neurotransmission are Associated with Interferon-Induced Depression / Udina, M. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Navinés, Ricard (Parc de Salut Mar. Secció Hepàtica) ; Egmond, Elfi ; Oriolo, Giovanni ; Langohr, K. ; Gimenez, D. (Parc de Salut Mar. Secció Hepàtica) ; Valdés, M. ; Gómez-Gil, E. ; Grande, Iria ; Gratacòs-Viñola, Margarida ; Kapczinski, F. ; Artigas Pérez, Francesc ; Vieta, Eduard ; Solà, R. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Martín-Santos, R. ; Universitat Autònoma de Barcelona
The role of inflammation in mood disorders has received increased attention. There is substantial evidence that cytokine therapies, such as interferon alpha (IFN-alpha), can induce depressive symptoms. [...]
2015 - 10.1093/ijnp/pyv135
International journal of neuropsychopharmacology, Vol. 19 (december 2015)  
Detailed record - Creative Commons

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