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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).

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Title: New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).
Authors: Corral-Juan M; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain., Casquero P; Neurology and Neurophysiology Section, Hospital Mateu Orfila, Mahón, Menorca, Spain., Giraldo-Restrepo N; Neurology and Neurophysiology Section, Hospital Mateu Orfila, Mahón, Menorca, Spain., Laurie S; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Martinez-Piñeiro A; Neuromuscular and Functional Studies Unit, Neurology Service, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain., Mateo-Montero RC; Neurology and Neurophysiology Section, Hospital Mateu Orfila, Mahón, Menorca, Spain., Ispierto L; Neurodegenerative Diseases Unit, Neurology Service, Department of Neuroscience, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain., Vilas D; Neurodegenerative Diseases Unit, Neurology Service, Department of Neuroscience, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/0018-ISCIII), Barcelona, Spain., Tolosa E; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/0018-ISCIII), Barcelona, Spain., Volpini V; IDIBELL, L'Hospitalet, Barcelona, Spain., Alvarez-Ramo R; Neurodegenerative Diseases Unit, Neurology Service, Department of Neuroscience, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain., Sánchez I; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain., Matilla-Dueñas A; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.
Source: Brain communications [Brain Commun] 2022 Feb 10; Vol. 4 (2), pp. fcac030. Date of Electronic Publication: 2022 Feb 10 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
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  Data: New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).
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  Data: <searchLink fieldCode="AU" term="%22Corral-Juan+M%22">Corral-Juan M</searchLink>; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Casquero+P%22">Casquero P</searchLink>; Neurology and Neurophysiology Section, Hospital Mateu Orfila, Mahón, Menorca, Spain.<br /><searchLink fieldCode="AU" term="%22Giraldo-Restrepo+N%22">Giraldo-Restrepo N</searchLink>; Neurology and Neurophysiology Section, Hospital Mateu Orfila, Mahón, Menorca, Spain.<br /><searchLink fieldCode="AU" term="%22Laurie+S%22">Laurie S</searchLink>; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez-Piñeiro+A%22">Martinez-Piñeiro A</searchLink>; Neuromuscular and Functional Studies Unit, Neurology Service, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Mateo-Montero+RC%22">Mateo-Montero RC</searchLink>; Neurology and Neurophysiology Section, Hospital Mateu Orfila, Mahón, Menorca, Spain.<br /><searchLink fieldCode="AU" term="%22Ispierto+L%22">Ispierto L</searchLink>; Neurodegenerative Diseases Unit, Neurology Service, Department of Neuroscience, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Vilas+D%22">Vilas D</searchLink>; Neurodegenerative Diseases Unit, Neurology Service, Department of Neuroscience, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/0018-ISCIII), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Tolosa+E%22">Tolosa E</searchLink>; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/0018-ISCIII), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Volpini+V%22">Volpini V</searchLink>; IDIBELL, L'Hospitalet, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Alvarez-Ramo+R%22">Alvarez-Ramo R</searchLink>; Neurodegenerative Diseases Unit, Neurology Service, Department of Neuroscience, University Hospital Germans Trias i Pujol (HUGTiP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sánchez+I%22">Sánchez I</searchLink>; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Matilla-Dueñas+A%22">Matilla-Dueñas A</searchLink>; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain.
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