Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

导出 OA

翻译打印收藏纠错

第一作者： Sofia,Ahola

第一单位： From the Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (S.A., P.I., L.E., V.B., H.T., A.S.), Institute for Molecular Medicine Finland (A.P.), Department of Medical Genetics, Haartman Institute (H.T.), and Neuroscience Center (A.S.), University of Helsinki; Department of Child Neurology, Children's Hospital (P.I., H.P., T. Lönnqvist), and Department of Neurology (A.S.), Helsinki University Central Hospital, Finland; Analytic and Translational Genetics Unit, Department of Medicine (A.P.), and Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry (A.P.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics (A.P.), Broad Institute of MIT and Harvard, Cambridge, MA; and Department of Pathology (T. Lehtonen, J.L.), University of Turku, Finland.

作者： Sofia,Ahola ^[1] ; Pirjo,Isohanni ^[1] ; Liliya,Euro ^[1] ; Virginia,Brilhante ^[1] ; Aarno,Palotie ^[1] ; Helena,Pihko ^[1] ; Tuula,Lönnqvist ^[1] ; Tanita,Lehtonen ^[1] ; Jukka,Laine ^[1] ; Henna,Tyynismaa ^[1] ; Anu,Suomalainen ^[2]

作者单位： From the Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (S.A., P.I., L.E., V.B., H.T., A.S.), Institute for Molecular Medicine Finland (A.P.), Department of Medical Genetics, Haartman Institute (H.T.), and Neuroscience Center (A.S.), University of Helsinki; Department of Child Neurology, Children's Hospital (P.I., H.P., T. Lönnqvist), and Department of Neurology (A.S.), Helsinki University Central Hospital, Finland; Analytic and Translational Genetics Unit, Department of Medicine (A.P.), and Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry (A.P.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics (A.P.), Broad Institute of MIT and Harvard, Cambridge, MA; and Department of Pathology (T. Lehtonen, J.L.), University of Turku, Finland. ^[1] From the Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (S.A., P.I., L.E., V.B., H.T., A.S.), Institute for Molecular Medicine Finland (A.P.), Department of Medical Genetics, Haartman Institute (H.T.), and Neuroscience Center (A.S.), University of Helsinki; Department of Child Neurology, Children's Hospital (P.I., H.P., T. Lönnqvist), and Department of Neurology (A.S.), Helsinki University Central Hospital, Finland; Analytic and Translational Genetics Unit, Department of Medicine (A.P.), and Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry (A.P.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics (A.P.), Broad Institute of MIT and Harvard, Cambridge, MA; and Department of Pathology (T. Lehtonen, J.L.), University of Turku, Finland. anu.wartiovaara@helsinki.fi. ^[2]