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TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi, Laura; Valenza, Fabiola; Mosca, Lorena; Dal Mas, Andrea; Domi, Teuta; Romano, Alessandro; Tarlarini, Claudia; Falzone, Yuri Matteo; Tremolizzo, Lucio; Sorarù, Gianni; Cerri, Federica; Ferraro, Pilar M; Basaia, Silvia; Agosta, Federica; Fazio, Raffaella; Comola, Mauro; Comi, Giancarlo; Ferrari, Maurizio; Quattrini, Angelo; Lunetta, Christian; Penco, Silvana; Bonanomi, Dario; Carrera, Paola; Riva, Nilo.
Afiliación
  • Pozzi L; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Valenza F; Molecular Neurobiology Laboratory, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Mosca L; Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
  • Dal Mas A; Molecular Neurobiology Laboratory, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Domi T; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Romano A; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Tarlarini C; Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
  • Falzone YM; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Tremolizzo L; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Sorarù G; Neurology Unit, "San Gerardo" Hospital and University of Milano-Bicocca, Monza, Italy.
  • Cerri F; Department of Neurosciences, Neuromuscular Center, University of Padova, Padua, Italy.
  • Ferraro PM; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Basaia S; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Agosta F; Neuroimaging Research Unit, Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Fazio R; Neuroimaging Research Unit, Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Comola M; Neuroimaging Research Unit, Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Comi G; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Ferrari M; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Quattrini A; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Lunetta C; Università Vita e Salute San Raffaele, Milan, Italy.
  • Penco S; Università Vita e Salute San Raffaele, Milan, Italy.
  • Bonanomi D; Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, San Raffaele Scientific Institute, Milan, Italy.
  • Carrera P; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Riva N; NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Milan, Italy.
J Neurol Neurosurg Psychiatry ; 88(10): 869-875, 2017 10.
Article en En | MEDLINE | ID: mdl-28822984
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Serina-Treonina Quinasas / Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Imprimir
XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Serina-Treonina Quinasas / Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2017 Tipo del documento: Article País de afiliación: Italia