المؤلفون: Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Jose Bras, Rita Guerreiro

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Copy number variants, Dementia, Genotyping, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/3333ee35e57a4fb0954bf1090899f4e8

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/fd269f7adb7a4eddb42c68dbb59da734

المؤلفون: Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez‐Quintana, Angie Rupp, Celia Kun‐Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras

المصدر: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)

مصطلحات موضوعية: Hurler, iduronidase, lysosomal storage disease, Scheie, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/a781ad876b6f449c84adc6e3ce5584c3

المؤلفون: Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda Halliday, David J. Stone, Dennis W. Dickson, John Hardy, Andrew Singleton, Rita Guerreiro, Jose Bras

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/eb7da7eb422d4a428e7652ae48f842e3

المؤلفون: Rita Guerreiro, Valentina Escott-Price, Dena G. Hernandez, Celia Kun-Rodrigues, Owen A. Ross, Tatiana Orme, Joao Luis Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, Juan C. Troncoso, Olga Pletnikova, Ted Dawson, Liana Rosenthal, Olaf Ansorge, Jordi Clarimon, Alberto Lleo, Estrella Morenas-Rodriguez, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda M. Halliday, John Hardy, John Q. Trojanowski, Dennis W. Dickson, Andrew Singleton, David J. Stone, Jose Bras

المصدر: Neurobiology of Disease, Vol 127, Iss , Pp 492-501 (2019)

مصطلحات موضوعية: Genetic variance, Dementia, Lewy bodies, Genetic correlation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996119300956; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/8a8a606f7f4c49d690647ef64ba97f82

المؤلفون: Rita Guerreiro, Elizabeth Gibbons, Miguel Tábuas-Pereira, Celia Kun-Rodrigues, Gustavo C. Santo, Jose Bras

المصدر: Neurobiology of Disease, Vol 142, Iss , Pp 104946- (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996120302217; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/523ee7231c9146e78314c7531b51fc99

المؤلفون: Rita Guerreiro, Kiterie M. E. Faller, Angie Rupp, Jose Bras, Alison Ridyard, Rodrigo Gutierrez-Quintana, Celia Kun-Rodrigues, Tatiana Orme, Heather J. Church, Karen Tylee

المصدر: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)
Journal of Veterinary Internal Medicine

مصطلحات موضوعية: Proband, medicine.medical_specialty, 040301 veterinary sciences, Mucopolysaccharidosis I, Hurler, Standard Article, 030204 cardiovascular system & hematology, medicine.disease_cause, Dermatan sulfate, Scheie, 0403 veterinary science, 03 medical and health sciences, Mucopolysaccharidosis type I, Exon, chemistry.chemical_compound, Endocrinology, Dogs, 0302 clinical medicine, Internal medicine, Genotype, medicine, Lysosomal storage disease, Animals, Dog Diseases, Sequence Deletion, Mutation, lcsh:Veterinary medicine, General Veterinary, business.industry, Homozygote, iduronidase, Exons, 04 agricultural and veterinary sciences, medicine.disease, Standard Articles, lysosomal storage disease, chemistry, lcsh:SF600-1100, SMALL ANIMAL, business, Iduronidase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce7a23f4302e61f241dcf94594ce389
https://doi.org/10.1111/jvim.15868

المؤلفون: Celia Kun-Rodrigues, Bettina Möller, Axel Rominger, Tatiana Bremova-Ertl, Susanne A. Schneider, Jose Bras, Marlene Moser, Clara Sztatecsny, Michael Strupp, Dirk A. Clevert, Dimitar Ninov, Stefanie Beck-Wödl, Matthias Brendel

المصدر: Neurology. 94:e1702-e1715

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Pathology, medicine.medical_specialty, Population, Hepatosplenomegaly, REM Sleep Behavior Disorder, Asymptomatic, REM sleep behavior disorder, Loss of heterozygosity, Olfaction Disorders, 03 medical and health sciences, Ocular Motility Disorders, 0302 clinical medicine, Niemann-Pick C1 Protein, Hyposmia, medicine, Humans, Cognitive Dysfunction, Family, 610 Medicine & health, education, Eye Movement Measurements, Aged, Ultrasonography, Subclinical infection, education.field_of_study, business.industry, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Middle Aged, medicine.disease, Hexosaminidases, Phenotype, 030104 developmental biology, Positron-Emission Tomography, Mutation, Splenomegaly, Female, Neurology (clinical), medicine.symptom, business, Cholestanols, 030217 neurology & neurosurgery, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e198934b39792b082d60e8f271832b
https://doi.org/10.1212/wnl.0000000000009290

المؤلفون: Gamze Guven, Hasmet Hanagasi, Başar Bilgiç, Ebba Lohmann, Catarina Gouveia, Celia Kun-Rodrigues, Rita Guerreiro, Kalina Foster, Hakan Gurvit, Nadia Dehghani, Jose Bras, Bedia Samanci

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-12 (2021)
Human Genomics
Human genomics 15(1), 48 (2021). doi:10.1186/s40246-021-00346-z

مصطلحات موضوعية: Male, 0301 basic medicine, Turkey, Receptors, Cytoplasmic and Nuclear, Disease, QH426-470, pathology [Dementia], Cohort Studies, 0302 clinical medicine, Drug Discovery, genetics [Ubiquitin-Specific Proteases], Copy-number variation, Family history, epidemiology [Turkey], Sorting Nexins, Adenosine Triphosphatases, Aged, 80 and over, Genetics, education.field_of_study, Genomics, Middle Aged, genetics [Adenosine Triphosphatases], Cohort, genetics [Sorting Nexins], Medicine, Molecular Medicine, genetics [Mitochondrial Proteins], Female, Ubiquitin-Specific Proteases, Primary Research, genetics [ATP Binding Cassette Transporter 1], genetics [Receptors, Cytoplasmic and Nuclear], ATP Binding Cassette Transporter 1, Frontotemporal dementia, congenital, hereditary, and neonatal diseases and abnormalities, Genotyping, DNA Copy Number Variations, Genotype, genetics [DNA Copy Number Variations], Population, Kruppel-Like Transcription Factors, Karyopherins, Biology, Mitochondrial Proteins, 03 medical and health sciences, genetics [Dementia], ddc:570, genetics [Karyopherins], mental disorders, medicine, Humans, Dementia, Genetic Predisposition to Disease, genetics [Genome, Human], Copy number variants, education, Molecular Biology, Aged, Genome, Human, genetics [Kruppel-Like Transcription Factors], medicine.disease, Human genetics, 030104 developmental biology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dbb0dee15270e2dc0c26e2be2f4c632
https://doi.org/10.1186/s40246-021-00346-z

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