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1دورية أكاديمية
المؤلفون: Clemens Messerschmidt, Marco Foddis, Sonja Blumenau, Susanne Müller, Kajetan Bentele, Manuel Holtgrewe, Celia Kun-Rodrigues, Isabel Alonso, Maria do Carmo Macario, Ana Sofia Morgadinho, Ana Graça Velon, Gustavo Santo, Isabel Santana, Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Minna Pöyhönen, Liisa Myllykangas, Assunta Senatore, Daniel Berchtold, Katarzyna Winek, Andreas Meisel, Aleksandra Pavlovic, Vladimir Kostic, Valerija Dobricic, Ebba Lohmann, Hasmet Hanagasi, Gamze Guven, Basar Bilgic, Jose Bras, Rita Guerreiro, Dieter Beule, Ulrich Dirnagl, Celeste Sassi
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Diagnostic Center, Department of Pathology, Helsinki University Hospital Area, Minna Pöyhönen / Principal Investigator, University of Helsinki
المصدر: Acta Neurologica Scandinavica. 146:643-651
مصطلحات موضوعية: Arthrogryposis, Receptors, Notch, phenotype, MUTATIONS, genotype, Finnish, 3112 Neurosciences, CADASIL, General Medicine, Magnetic Resonance Imaging, 3124 Neurology and psychiatry, PREVALENCE, Neurology, Leukoencephalopathies, NOTCH3, Humans, Neurology (clinical), mutation, Receptor, Notch3, Finland, Retrospective Studies
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المؤلفون: Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Jose Bras, Susanna Roine, Minna Pöyhönen, Rita Guerreiro, Liisa Myllykangas
المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Diagnostic Center, Minna Pöyhönen / Principal Investigator, University of Helsinki, Department of Pathology
المصدر: Acta neurologica Scandinavica. 146(1)
مصطلحات موضوعية: RISK, TREX1, Dementia, Vascular, 3112 Neurosciences, cerebrovascular disorders, vascular dementia, ASSOCIATION, General Medicine, High-Temperature Requirement A Serine Peptidase 1, 3124 Neurology and psychiatry, whole exome sequencing, METHYLENETETRAHYDROFOLATE REDUCTASE, Stroke, HTRA1 MUTATIONS, Neurology, Cerebral Small Vessel Diseases, Humans, Cognitive Dysfunction, Neurology (clinical), Genetic Testing, GENOMICS, 3' Untranslated Regions, COPY NUMBER VARIATION
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المؤلفون: Johanna Schleutker, Auli Verkkoniemi-Ahola, Hannaleena Kokkonen, Minna Pöyhönen, Liina Kuuluvainen, Päivi Hartikainen, Anna H. Hakonen, Liisa Myllykangas, Fang Zhao, Saana Mönkäre
المصدر: Stroke. 52
مصطلحات موضوعية: Advanced and Specialized Nursing, 0303 health sciences, medicine.medical_specialty, business.industry, Ischemic strokes, Disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Gene duplication, medicine, Cardiology, Neurology (clinical), Small vessel, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery, 030304 developmental biology, Early onset
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c77bd19b4270ee083831985a09571215
https://doi.org/10.1161/strokeaha.120.033864 -
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المؤلفون: Celia Kun-Rodrigues, Liina Kuuluvainen, Johanna Schleutker, Jose Bras, Minna Pöyhönen, Susana Carmona, Liisa Myllykangas, Rita Guerreiro, Saana Mönkäre
المساهمون: HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, Department of Diagnostics and Therapeutics, Helsinki University Hospital Area, Minna Pöyhönen / Principal Investigator, Department of Pathology
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Adult, Collagen Type IV, Male, Adolescent, Disease, VARIANTS, Polymorphism, Single Nucleotide, Article, MECHANISMS, 03 medical and health sciences, Unknown Significance, HTRA1 MUTATIONS, Exome Sequencing, Genetics, medicine, Humans, Dementia, PEPTIDE, Cognitive impairment, Receptor, Notch3, Gene, Finland, Genetics (clinical), Exome sequencing, Aged, 0303 health sciences, FRONTOTEMPORAL LOBAR DEGENERATION, business.industry, Dementia, Vascular, DEMENTIA, 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, High-Temperature Requirement A Serine Peptidase 1, Frontotemporal lobar degeneration, ASSOCIATION, Middle Aged, medicine.disease, GENE, 3. Good health, Cerebral Small Vessel Diseases, HTRA1, 1182 Biochemistry, cell and molecular biology, Female, business, EHLERS-DANLOS-SYNDROME, STROKE
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e7a31555aa0762bf2980941018cce34
http://hdl.handle.net/10138/333907 -
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المؤلفون: Kristiina Avela, Kristiina Aittomäki, Stephanie Barton, Liina Kuuluvainen, Sanna Seitsonen, Eeva-Marja Sankila, Stuart Gillies
المصدر: Acta Ophthalmologica. 96:183-191
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, DNA Mutational Analysis, Mutation, Missense, Visual Acuity, ABCA4, Receptors, Cell Surface, Compound heterozygosity, Bioinformatics, medicine.disease_cause, Retina, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, CERKL Gene, Retinal Dystrophies, Electroretinography, medicine, Humans, Missense mutation, Child, Eye Proteins, Exome, Finland, Aged, Genetics, Mutation, biology, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Founder Effect, Pedigree, 3. Good health, Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, 030104 developmental biology, Guanylate Cyclase, 030221 ophthalmology & optometry, biology.protein, GUCY2D, ATP-Binding Cassette Transporters, Female, Visual Fields, Microtubule-Associated Proteins, Founder effect
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المؤلفون: Liina, Kuuluvainen, Karri, Kaivola, Saana, Mönkäre, Hannu, Laaksovirta, Manu, Jokela, Bjarne, Udd, Miko, Valori, Petra, Pasanen, Anders, Paetau, Bryan J, Traynor, David J, Stone, Johanna, Schleutker, Minna, Pöyhönen, Pentti J, Tienari, Liisa, Myllykangas
المصدر: Neurology: Genetics
مصطلحات موضوعية: Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::54dd2b6cbf01595a0f09121847062e91
https://pubmed.ncbi.nlm.nih.gov/31086828 -
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المؤلفون: Auli Verkkoniemi-Ahola, Minna Pöyhönen, Liina Kuuluvainen, Liisa Myllykangas, Sirpa Kivirikko
المصدر: Journal of the Neurological Sciences. 408:116555
مصطلحات موضوعية: Genetics, 0303 health sciences, business.industry, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Neurology, Neuroacanthocytosis, Medicine, Neurology (clinical), business, Gene, 030217 neurology & neurosurgery, 030304 developmental biology, Chorea acanthocytosis
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المؤلفون: Pentti J. Tienari, Liina Kuuluvainen, Anders Paetau, Petra Pasanen, Liisa Myllykangas, Jaana Rummukainen, Maija Siitonen, Minna Pöyhönen
المساهمون: Minna Pöyhönen / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, Clinicum, Research Programs Unit, Research Programme for Molecular Neurology, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Department of Neurosciences, Department of Pathology, HUSLAB, Liisa Tellervo Myllykangas / Principal Investigator, HUS Neurocenter
المصدر: Journal of Alzheimer's disease : JAD. 55(3)
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, TDP-43, DNA Mutational Analysis, progranulin (GRN), DISEASE, 3124 Neurology and psychiatry, 0302 clinical medicine, Progranulins, Genetics, Aged, 80 and over, PROGRANULIN MUTATIONS, DEMENTIA, General Neuroscience, Brain, FTD, General Medicine, Frontotemporal lobar degeneration, Middle Aged, Phenotype, DNA-Binding Proteins, Psychiatry and Mental health, Clinical Psychology, Mutation (genetic algorithm), Intercellular Signaling Peptides and Proteins, Female, Haploinsufficiency, Frontotemporal dementia, EXPRESSION, 03 medical and health sciences, mental disorders, medicine, Dementia, Humans, RNA, Messenger, Loss function, Aged, Family Health, business.industry, 3112 Neurosciences, medicine.disease, GENE, nervous system diseases, PATHOLOGY, 030104 developmental biology, Mutation, Tyrosine, Geriatrics and Gerontology, Frontotemporal Lobar Degeneration, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03eaa71d8af389377820272f39fef456
https://pubmed.ncbi.nlm.nih.gov/27767988 -
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المؤلفون: Manu Jokela, Liisa Myllykangas, Bryan J. Traynor, Hannu Laaksovirta, Pentti J. Tienari, Johanna Schleutker, Liina Kuuluvainen, Miko Valori, Karri Kaivola, Bjarne Udd, David J. Stone, Anders Paetau, Petra Pasanen, Saana Mönkäre, Minna Pöyhönen
المساهمون: Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University, HUSLAB, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Research Programme for Molecular Neurology, Research Programs Unit, HUS Neurocenter, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, University Management, Department of Pathology, Minna Pöyhönen / Principal Investigator
المصدر: Neurology Genetics. 5:e335
مصطلحات موضوعية: 0301 basic medicine, SOD1, Disease, Biology, Compound heterozygosity, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, CU/ZN SUPEROXIDE-DISMUTASE, 03 medical and health sciences, 0302 clinical medicine, Genetiikka, kehitysbiologia, fysiologia - Genetics, developmental biology, physiology, Neurologia ja psykiatria - Neurology and psychiatry, medicine, Amyotrophic lateral sclerosis, Mutation frequency, Genetics (clinical), Genetics, Haplotype, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences, medicine.disease, GENE, Penetrance, 3. Good health, 030104 developmental biology, ONSET, Mutation (genetic algorithm), 3111 Biomedicine, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: fulltext
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8261bf09ad745059a9ab832e890d6d2c
https://doi.org/10.1212/nxg.0000000000000335
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