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NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa, Johanna; Kaarteenaho, Riitta; Paakkola, Teija; Tuominen, Hannu; Karjalainen, Minna K; Nadaf, Javad; Varilo, Teppo; Uusi-Mäkelä, Meri; Suo-Palosaari, Maria; Pietilä, Ilkka; Hiltunen, Anniina E; Ruddock, Lloyd; Alanen, Heli; Biterova, Ekaterina; Miinalainen, Ilkka; Salminen, Annamari; Soininen, Raija; Manninen, Aki; Sormunen, Raija; Kaakinen, Mika; Vuolteenaho, Reetta; Herva, Riitta; Vieira, Päivi; Dunder, Teija; Kokkonen, Hannaleena; Moilanen, Jukka S; Rantala, Heikki; Nogee, Lawrence M; Majewski, Jacek; Rämet, Mika; Hallman, Mikko; Hinttala, Reetta.
Afiliação
  • Uusimaa J; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland. johanna.uusimaa@oulu.fi.
  • Kaarteenaho R; Department of Children and Adolescents, Oulu University Hospital, PO Box 23, 90029, Oulu, Finland. johanna.uusimaa@oulu.fi.
  • Paakkola T; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland. johanna.uusimaa@oulu.fi.
  • Tuominen H; Research Unit of Internal Medicine, Respiratory Research, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Karjalainen MK; Medical Research Center Oulu and Unit of Internal Medicine and Respiratory Medicine, Oulu University Hospital, PO Box 20, 90029, Oulu, Finland.
  • Nadaf J; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland.
  • Varilo T; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Uusi-Mäkelä M; Department of Pathology, Cancer and Translational Medicine Research Unit, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Suo-Palosaari M; Department of Pathology, Oulu University Hospital, PO Box 50, 90029, Oulu, Finland.
  • Pietilä I; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland.
  • Hiltunen AE; McGill University and Génome Québec Innovation Centre, Montreal, QC, H3A 0G1, Canada.
  • Ruddock L; St. Jude Children's Research Hospital (SJCRH), 262 Danny Thomas Place, Memphis, TN, 38105, USA.
  • Alanen H; Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, 00251, Helsinki, Finland.
  • Biterova E; BioMediTech Institute and Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.
  • Miinalainen I; Department of Diagnostic Radiology and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 50, 90029, Oulu, Finland.
  • Salminen A; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland.
  • Soininen R; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Manninen A; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland.
  • Sormunen R; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Kaakinen M; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Vuolteenaho R; Faculty of Biochemistry and Molecular Medicine, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Herva R; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Vieira P; Faculty of Biochemistry and Molecular Medicine, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Dunder T; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Kokkonen H; Faculty of Biochemistry and Molecular Medicine, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Moilanen JS; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Rantala H; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland.
  • Nogee LM; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Majewski J; Faculty of Biochemistry and Molecular Medicine, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Rämet M; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Hallman M; Faculty of Biochemistry and Molecular Medicine, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
  • Hinttala R; Biocenter Oulu, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
Acta Neuropathol ; 135(5): 727-742, 2018 05.
Article em En | MEDLINE | ID: mdl-29423877
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrose Pulmonar / Variação Genética / Encefalopatias / Doenças Neurodegenerativas / Peptídeos e Proteínas de Sinalização Intracelular / Angiomatose Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrose Pulmonar / Variação Genética / Encefalopatias / Doenças Neurodegenerativas / Peptídeos e Proteínas de Sinalização Intracelular / Angiomatose Idioma: En Ano de publicação: 2018 Tipo de documento: Article