المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

المؤلفون: Joshua D. Brown-Clay, Flora Moreau, Fernando Schmitt, Clément Thomas, Bárbara Sousa, Antoun Al Absi, Céline Hoffmann, Bassam Janji, Guy Berchem, Xianqing Mao, Hannah Wurzer

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-14 (2018)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Muscle Proteins / genetics, Invadopodium, LIM Domain Proteins / genetics, Muscle Proteins, Hypoxia-Inducible Factor 1, alpha Subunit / metabolism, Kaplan-Meier Estimate, Extracellular matrix, Transactivation, Mice, Neoplasm Invasiveness / pathology, Cell Movement, Breast, RNA, Small Interfering, Cytoskeleton, Promoter Regions, Genetic, Hypoxia-Responsive Elements, Regulation of gene expression, Multidisciplinary, Chemistry, Breast Neoplasms / mortality, Nuclear Proteins, LIM Domain Proteins, Middle Aged, Cell Hypoxia, Cell biology, Extracellular Matrix, Up-Regulation, Gene Expression Regulation, Neoplastic, Gene Knockdown Techniques, RNA, Small Interfering / metabolismo, Invadopodia, Medicine, Breast Neoplasms / pathology, Female, Adult, Hypoxia-Inducible Factor 1, alpha Subunit / genetics, Science, Breast Neoplasms, Nuclear Proteins / genetics, Article, 03 medical and health sciences, Downregulation and upregulation, Cell Line, Tumor, Animals, Humans, Neoplasm Invasiveness, Aged, Hypoxia-Inducible Factor 1, alpha Subunit, Breast / pathology, Extracellular Matrix / pathology, LIM Domain Proteins / metabolism, Xenograft Model Antitumor Assays, 030104 developmental biology, Breast Neoplasms / genetics, Nuclear Proteins / metabolismo, Muscle Proteins / metabolismo

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57cf1f2a0de1d1ddc5a8f435179b22b5Test
https://hdl.handle.net/10216/127417Test

المؤلفون: Gaist, David, Mogensen, Jens, Pedersen, Emil Greve, Schroder, Henrik Daa, Vissing, John, Andersen, Henning, Hertz, Jens Michael

المصدر: Gaist , D , Mogensen , J , Pedersen , E G , Schroder , H D , Vissing , J , Andersen , H & Hertz , J M 2017 , ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ' , Journal of the Neurological Sciences , vol. 379 , pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test

مصطلحات موضوعية: DOK7 congenital myasthenia, Cardiac disease, Mitral valve disease, Neuromuscular disorders, PROLAPSE, MUTATIONS, Myasthenic Syndromes, Congenital/complications, Muscle Proteins/genetics, Humans, Middle Aged, Genetic Predisposition to Disease/genetics, Male, Female, Mutation, Mitral Valve Insufficiency/complications, Siblings

الإتاحة: https://doi.org/10.1016/j.jns.2017.06.005Test
https://pure.au.dk/portal/da/publications/dok7-congenital-myasthenia-may-be-associated-with-severe-mitral-valve-insufficiencyTest(48ffb97f-f439-4471-8874-8487aebe0dd6).html
http://www.scopus.com/inward/record.url?scp=85020895129&partnerID=8YFLogxKTest

المؤلفون: Abdallah, Basem M., Figeac, Florence, Larsen, Kenneth H., Ditzel, Nicholas, Keshari, Pankaj, Isa, Adiba, Jafari, Abbas, Andersen, Thomas L., Delaisse, Jean Marie, Goshima, Yoshio, Ohshima, Toshio, Kassem, Moustapha

المصدر: Abdallah , B M , Figeac , F , Larsen , K H , Ditzel , N , Keshari , P , Isa , A , Jafari , A , Andersen , T L , Delaisse , J M , Goshima , Y , Ohshima , T & Kassem , M 2017 , ' CRMP4 Inhibits Bone Formation by Negatively Regulating BMP and RhoA Signaling ' , Journal of Bone and Mineral Research , vol. 32 , no. 5 , pp. 913-926 . https://doi.org/10.1002/jbmr.3069Test

مصطلحات موضوعية: BONE REMODELING, CRMP4, DPYSL3, OSTEOBLAST, OSTEOPOROSIS, Focal Adhesion Kinase 1/genetics, Stromal Cells/cytology, Muscle Proteins/genetics, rho GTP-Binding Proteins/genetics, Mice, Knockout, Signal Transduction/physiology, Osteoblasts/cytology, Animals, Cyclin-Dependent Kinase Inhibitor p27/genetics, Cell Proliferation/genetics, Osteogenesis, Bone Morphogenetic Protein 2/genetics

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/7d99d343-4853-4a63-a7b2-9ec53e370acfTest

الإتاحة: https://doi.org/10.1002/jbmr.3069Test
https://portal.findresearcher.sdu.dk/da/publications/7d99d343-4853-4a63-a7b2-9ec53e370acfTest

المؤلفون: Jansen, Iris E, Gibbs, J Raphael, Hardy, John, Wood, Nicholas W, Morris, Huw R, Gasser, Thomas, Singleton, Andrew B, Heutink, Peter, Sharma, Manu, Consortium, International Parkinson's Disease Genomics, Nalls, Mike A, Price, T Ryan, Lubbe, Steven, van Rooij, Jeroen, Uitterlinden, André G, Kraaij, Robert, Williams, Nigel M, Brice, Alexis

المصدر: Neurobiology of aging 59, 220.e11-220.e18 (2017). doi:10.1016/j.neurobiolaging.2017.07.009

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Datasets as Topic, Genetic Loci: genetics, Genetic Predisposition to Disease: genetics, Genetic Variation: genetics, Genome-Wide Association Study, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2: genetics, Membrane Proteins: genetics, Mitochondrial Proteins: genetics, Muscle Proteins: genetics, Parkinson Disease: genetics, Risk, Seminal Plasma Proteins: genetics, GENX-3414 protein, human, Membrane Proteins, Mitochondrial Proteins, Muscle Proteins, SPATA19 protein, Seminal Plasma Proteins, LRRK2 protein, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:28867149; info:eu-repo/semantics/altIdentifier/issn/0197-4580; info:eu-repo/semantics/altIdentifier/issn/1558-1497; https://pub.dzne.de/record/139521Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-05843%22Test

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2017.07.009Test
https://pub.dzne.de/record/139521Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-05843%22Test

المؤلفون: Lornage, Xavière, Malfatti, Edoardo, Schneider, Raphael, Biancalana, Valerie, Cuisset, Jean, Garibaldi, Matteo, Eymard, Bruno, Fardeau, Michel, Boland, Anne, Deleuze, Jean, Thompson, Julie, D., Carlier, Robert, Bohm, Johann, Romero, Norma, Laporte, Jocelyn

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Ann Neurol ; https://hal.science/hal-03680439Test ; Ann Neurol, 2017, 81 (3), pp.467-473. ⟨10.1002/ana.24900⟩ ; http://www.ncbi.nlm.nih.gov/pubmed/28220527Test

مصطلحات موضوعية: Adult, Consanguinity, Exome, Female, Humans, Male, Muscle Proteins/*genetics, Mutation, Myopathies, Structural, Congenital/*genetics/pathology/physiopathology, Pedigree, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

العلاقة: hal-03680439; https://hal.science/hal-03680439Test

الإتاحة: https://doi.org/10.1002/ana.24900Test
https://hal.science/hal-03680439Test

المؤلفون: Gerjan Navis, Moritz F. Sinner, Kathleen F. Kerr, Heikki V. Huikuri, Daniele Cusi, Oscar H. Franco, Marian C. Limacher, Charles Kooperberg, Gabrielle Boucher, Riad Bayoumi, Juhani Junttila, Ann-Christine Syvänen, Andrew P. Morris, Anubha Mahajan, Andreas Voss, Paul I.W. de Bakker, Patrick T. Ellinor, Phyllis K. Stein, Janine F. Felix, Mark A. Geyer, Mike A. Nalls, Erik Ingelsson, Vinicius Tragante, Joshua C. Bis, Kari E. North, Jean-Claude Tardif, Harold Snieder, Azmeraw T. Amare, Katarzyna Stolarz-Skrzypek, Markku Eskola, Ilja M. Nolte, Tanja G. M. Vrijkotte, Elsayed Z. Soliman, Deepali Jaju, Melanie Neijts, Adrienne M. Stilp, Mika Kähönen, Henry J. Lin, Jessica van Setten, Meena Kumari, Halina Greiser, John S. Floras, Henriette E. Meyer zu Schwabedissen, Mohammad Hadi Zafarmand, Dewleen G. Baker, Rick Jansen, Cathy C. Laurie, Matteo Barcella, Christy L. Avery, Stefan Kääb, Michel G. Nivard, Jitender Kumar, Lars Lind, Alexander Teumer, Johan Sundström, Kirk C. Wilhelmsen, Barbara McKnight, Vilmantas Giedraitis, Johannes H. Smit, Gonneke Willemsen, Nona Sotoodehnia, Michele K. Evans, Christine M. Albert, Kent D. Taylor, Marcel den Hoed, James D. Stewart, Peter Friberg, Alvaro Alonso, Susan R. Heckbert, Kjell Nikus, Siegfried Perz, André G. Uitterlinden, Bruce M. Psaty, Antti M. Kiviniemi, G. Ehret, Jouke-Jan Hottenga, Sulayma Albarwani, Bouwe P. Krijthe, Timothy A. Thornton, Caroline M. Nievergelt, Delilah Zabaneh, Zhu Ming Zhang, Annie Britton, Ingrid E. Christophersen, Adam X. Maihofer, Juha Auvinen, David S. Siscovick, Arie M. van Roon, Xavier Jouven, Stephanie M. Gogarten, M. Loretto Munoz, Erika Salvi, Folkert W. Asselbergs, Bram Dierckx, Marjo-Riitta Järvelin, Cecilia M. Lindgren, Yun Li, Quenna Wong, Alan B. Zonderman, Yuri Milaneschi, John D. Rioux, Brenda W.J.H. Penninx, Philippe Goyette, Niek Verweij, Harriëtte Riese, Bruno H. Stricker, Markus Juonala, Rob J. Bieringa, Arpi Minassian, Jenny van Dongen, Abdel Abdellaoui, Foram N. Ashar, Jan A. Kors, Albertine J. Oldehinkel, Jussi Hernesniemi, Sander W. van der Laan, Ahmad Vaez, Nina Hutri-Kähönen, Annette Peters, Lesley E. Tinker, Albert Hofman, Dorret I. Boomsma, Victoria B. Risbrough, Tamar Sofer, Pim van der Harst, Konstantin Strauch, Steven A. Lubitz, Catharina A. Hartman, Jerome I. Rotter, Shih-Jen Hwang, Duanping Liao, Mika Kivimäki, Mohammad L. Hassan, Andrew Wong, Peter J. van der Most, Alexander Kluttig, Nina Mononen, Eco J. C. de Geus, Henning Tiemeier, Benedikt von der Heyde, Martina Müller-Nurasyid, Joop D. Lefrandt, Andrea Dietrich, Nicholas L. Smith, Terho Lehtimäki, Bianca J. J. M. Brundel, Jan A. Staessen, Cees A. Swenne, Julian F. Thayer, Daniel T. O'Connor, Christopher J. O'Donnell, Eric A. Whitsel, Tatiana Kuznetsova, Alexander P. Reiner, Johan Ormel, Ville Huikari, Yong Li, Tomas Axelsson, Olli T. Raitakari, Daiane Hemerich, Leo-Pekka Lyytikäinen, Maaike G. J. Gademan, Melanie Waldenberger, Diana Kuh

المساهمون: Ehret, Georg Benedikt, APH - Personalized Medicine, APH - Global Health, Other Research, ACS - Amsterdam Cardiovascular Sciences, Public and occupational health, APH - Methodology, APH - Health Behaviors & Chronic Diseases, ARD - Amsterdam Reproduction and Development, APH - Aging & Later Life, ACS - Atherosclerosis & ischemic syndromes, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, Physiology, ACS - Heart failure & arrhythmias, APH - Digital Health, Life Course Epidemiology (LCE), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Vascular Ageing Programme (VAP), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Cardiovascular Centre (CVC), Value, Affordability and Sustainability (VALUE), Biological Psychology, Praxis, Environmental Geography (former), Child and Adolescent Psychiatry / Psychology, Rheumatology, Epidemiology, Medical Informatics, Internal Medicine

المصدر: Nolte, I M, Munoz, M L, Tragante, V, Amare, A T, Jansen, R, Vaez, A, Von Der Heyde, B, Avery, C L, Bis, J C, Dierckx, B, Van Dongen, J, Gogarten, S M, Goyette, P, Hernesniemi, J, Huikari, V, Hwang, S J, Jaju, D, Kerr, K F, Kluttig, A, Krijthe, B P, Kumar, J, Van Der Laan, S W, Lyytikäinen, L P, Maihofer, A X, Minassian, A, Van Der Most, P J, Müller-Nurasyid, M, Nivard, M, Salvi, E, Stewart, J D, Thayer, J F, Verweij, N, Wong, A, Zabaneh, D, Zafarmand, M H, Abdellaoui, A, Albarwani, S, Albert, C, Alonso, A, Ashar, F, Auvinen, J, Axelsson, T, Baker, D G, De Bakker, P I W, Barcella, M, Bayoumi, R, Bieringa, R J, Boomsma, D, Boucher, G, Britton, A R, Christophersen, I E, Dietrich, A, Ehret, G B, Ellinor, P T, Eskola, M, Felix, J F, Floras, J S, Franco, O H, Friberg, P, Gademan, M G J, Geyer, M A, Giedraitis, V, Hartman, C A, Hemerich, D, Hofman, A, Hottenga, J J, Huikuri, H, Hutri-Kähönen, N, Jouven, X, Junttila, J, Juonala, M, Kiviniemi, A M, Kors, J A, Kumari, M, Kuznetsova, T, Laurie, C C, Lefrandt, J D, Li, Y, Li, Y, Liao, D, Limacher, M C, Lin, H J, Lindgren, C M, Lubitz, S A, Mahajan, A, McKnight, B, Meyer Zu Schwabedissen, H, Milaneschi, Y, Mononen, N, Morris, A P, Nalls, M A, Navis, G, Neijts, M, Nikus, K, North, K E, O'Connor, D T, Ormel, J, Perz, S, Peters, A, Psaty, B M, Raitakari, O T, Risbrough, V B, Sinner, M F, Siscovick, D, Smit, J H, Smith, N L, Soliman, E Z, Sotoodehnia, N, Staessen, J A, Stein, P K, Stilp, A M, Stolarz-Skrzypek, K, Strauch, K, Sundström, J, Swenne, C A, Syvänen, A C, Tardif, J C, Taylor, K D, Teumer, A, Thornton, T A, Tinker, L E, Uitterlinden, A G, Van Setten, J, Voss, A, Waldenberger, M, Wilhelmsen, K C, Willemsen, G, Wong, Q, Zhang, Z M, Zonderman, A B, Cusi, D, Evans, M K, Greiser, H K, Van Der Harst, P, Hassan, M, Ingelsson, E, Järvelin, M R, Kääb, S, Kähönen, M, Kivimaki, M, Kooperberg, C, Kuh, D, Lehtimäki, T, Lind, L, Nievergelt, C M, O'Donnell, C J, Oldehinkel, A J, Penninx, B, Reiner, A P, Riese, H, Van Roon, A M, Rioux, J D, Rotter, J I, Sofer, T, Stricker, B H, Tiemeier, H, Vrijkotte, T G M, Asselbergs, F W, Brundel, B J J M, Heckbert, S R, Whitsel, E A, Den Hoed, M, Snieder, H & De Geus, E J C 2017, ' Genetic loci associated with heart rate variability and their effects on cardiac disease risk ', Nature Communications, vol. 8, 15805 . https://doi.org/10.1038/ncomms15805Test
Nolte, I M, Munoz, M L, Tragante, V, Amare, A T, Jansen, R, Vaez, A, von der Heyde, B, Avery, C L, Bis, J C, Dierckx, B, van Dongen, J, Gogarten, S M, Goyette, P, Hernesniemi, J, Huikari, V, Hwang, S-J, Jaju, D, Kerr, K F, Kluttig, A, Krijthe, B P, Kumar, J, van der Laan, S W, Lyytikäinen, L-P, Maihofer, A X, Minassian, A, van der Most, P J, Müller-Nurasyid, M, Nivard, M, Salvi, E, Stewart, J D, Thayer, J F, Verweij, N, Wong, A, Zabaneh, D, Zafarmand, M H, Abdellaoui, A, Albarwani, S, Albert, C, Alonso, A, Ashar, F, Auvinen, J, Axelsson, T, Baker, D G, de Bakker, P I W, Barcella, M, Bayoumi, R, Bieringa, R J, Boomsma, D, Boucher, G, Britton, A R, Christophersen, I, Dietrich, A, Ehret, G B, Ellinor, P T, Eskola, M, Felix, J F, Floras, J S, Franco, O H, Friberg, P, Gademan, M G J, Geyer, M A, Giedraitis, V, Hartman, C A, Hemerich, D, Hofman, A, Hottenga, J-J, Huikuri, H, Hutri-Kähönen, N, Jouven, X, Junttila, J, Juonala, M, Kiviniemi, A M, Kors, J A, Kumari, M, Kuznetsova, T, Laurie, C C, Lefrandt, J D, Li, Y, Li, Y, Liao, D, Limacher, M C, Lin, H J, Lindgren, C M, Lubitz, S A, Mahajan, A, McKnight, B, Zu Schwabedissen, H M, Milaneschi, Y, Mononen, N, Morris, A P, Nalls, M A, Navis, G, Neijts, M, Nikus, K, North, K E, O'Connor, D T, Ormel, J, Perz, S, Peters, A, Psaty, B M, Raitakari, O T, Risbrough, V B, Sinner, M F, Siscovick, D, Smit, J H, Smith, N L, Soliman, E Z, Sotoodehnia, N, Staessen, J A, Stein, P K, Stilp, A M, Stolarz-Skrzypek, K, Strauch, K, Sundström, J, Swenne, C A, Syvänen, A-C, Tardif, J-C, Taylor, K D, Teumer, A, Thornton, T A, Tinker, L E, Uitterlinden, A G, van Setten, J, Voss, A, Waldenberger, M, Wilhelmsen, K C, Willemsen, G, Wong, Q, Zhang, Z-M, Zonderman, A B, Cusi, D, Evans, M K, Greiser, H K, van der Harst, P, Hassan, M, Ingelsson, E, Järvelin, M-R, Kääb, S, Kähönen, M, Kivimaki, M, Kooperberg, C, Kuh, D, Lehtimäki, T, Lind, L, Nievergelt, C M, O'Donnell, C J, Oldehinkel, A J, Penninx, B, Reiner, A P, Riese, H, Van Roon, A M, Rioux, J D, Rotter, J I, Sofer, T, Stricker, B H, Tiemeier, H, Vrijkotte, T G M, Asselbergs, F W, Brundel, B J J M, Heckbert, S R, Whitsel, E A, den Hoed, M, Snieder, H & de Geus, E J C 2017, ' Genetic loci associated with heart rate variability and their effects on cardiac disease risk ', Nature Communications, vol. 8, 15805, pp. 15805 . https://doi.org/10.1038/ncomms15805Test
Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)
Nature Communications, 8
Nature Communications, Vol. 8 (2017) P. 15805
Nature communications, 8. Nature Publishing Group
Nature Communications, 8:15805. Nature Publishing Group UK
Nature Communications, 8:15805. Nature Publishing Group
NATURE COMMUNICATIONS
Nature Communications [E], 8. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Netherlands Twin Register (NTR), Medicin och hälsovetenskap, Potassium Channels, Chemistry(all), Muscle Proteins, General Physics and Astronomy, Genome-wide association study, Blood Pressure, PEDIGREES, Bioinformatics, Biochemistry, Genome-wide association studies, Medical and Health Sciences, Cohort Studies, Heart Rate, Risk Factors, RGS Proteins/genetics, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, RECORDINGS, Heart rate variability, Vagal tone, European Continental Ancestry Group/genetics, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/genetics, ddc:616, Muscle Proteins/genetics, Multidisciplinary, digestive, oral, and skin physiology, Single Nucleotide, Multidisciplinary Sciences, Science & Technology - Other Topics, Heart Diseases/genetics/physiopathology, Erratum, circulatory and respiratory physiology, Heart Diseases, Science, Quantitative Trait Loci, RESPIRATORY SINUS ARRHYTHMIA, Quantitative trait locus, Biology, Physics and Astronomy(all), Polymorphism, Single Nucleotide, White People, General Biochemistry, Genetics and Molecular Biology, Article, PARASYMPATHETIC REGULATION, 03 medical and health sciences, SDG 3 - Good Health and Well-being, MD Multidisciplinary, Heart rate, Journal Article, Humans, Genetic Predisposition to Disease, COHORT, Polymorphism, GENOME-WIDE ASSOCIATION, METAANALYSIS, Genetic association, MODULATOR, Science & Technology, Biochemistry, Genetics and Molecular Biology(all), MORTALITY, Cardiovascular genetics, General Chemistry, Membrane hyperpolarization, ta3121, 030104 developmental biology, Expression quantitative trait loci, ATRIAL-FIBRILLATION, Potassium Channels/genetics, RGS Proteins, Genetics and Molecular Biology(all), Genome-Wide Association Study

وصف الملف: Electronic; application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e125496f1f64ca646a7f7b8a2279b541Test
https://research.vumc.nl/en/publications/812ebaf8-60cf-4de9-8b28-a2549195b0a4Test

المؤلفون: Henning Andersen, David Gaist, Henrik Daa Schrøder, Jens Mogensen, Jens Michael Hertz, John Vissing, Emil Greve Pedersen

المصدر: Gaist, D, Mogensen, J, Pedersen, E G, Schroder, H D, Vissing, J, Andersen, H & Hertz, J M 2017, ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ', Journal of the Neurological Sciences, vol. 379, pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test
Gaist, D, Mogensen, J, Pedersen, E G, Schrøder, H D, Vissing, J, Andersen, H & Hertz, J M 2017, ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ', Journal of the Neurological Sciences, vol. 379, pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, PROLAPSE, DOK7 congenital myasthenia, Congenital myasthenia, Cardiac disease, 03 medical and health sciences, Mitral Valve Insufficiency/complications, 0302 clinical medicine, Mitral valve, Internal medicine, Myasthenic Syndromes, Congenital/complications, medicine, Humans, Muscle Proteins/genetics, MUTATIONS, business.industry, Genetic Predisposition to Disease/genetics, Siblings, Middle Aged, 030104 developmental biology, medicine.anatomical_structure, Mitral valve disease, Neurology, Mutation, Mutation (genetic algorithm), Cardiology, Female, Neurology (clinical), business, Neuromuscular disorders, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c89644139cf3a987757e97a6efda17cTest
https://doi.org/10.1016/j.jns.2017.06.005Test

المساهمون: College of Medicine, Dept. of Neurology, Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung-Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young-Chul Choi, Lee, Jung Hwan, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Cho, Sung Rae, Choi, Young Chul

مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Asian Continental Ancestry Group/genetics, Calpain/genetics, Female, Genetic Testing, Humans, Male, Molecular Sequence Data, Muscle Proteins/genetics, Muscle, Skeletal/pathology, Muscular Dystrophies, Limb-Girdle/ethnology, Limb-Girdle/genetics, Limb-Girdle/pathology* Mutation* Republic of Korea, CAPN3, Limb girdle muscular dystrophy 2A, calpainopathy, lobulated fiber

وصف الملف: 173~179

العلاقة: YONSEI MEDICAL JOURNAL; J02813; OAK-2016-00019; https://ir.ymlib.yonsei.ac.kr/handle/22282913/145507Test; T201600006; YONSEI MEDICAL JOURNAL, Vol.57(1) : 173-179, 2016

الإتاحة: https://doi.org/10.3349/ymj.2016.57.1.173Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/145507Test

المؤلفون: Murdoch, John D, Rostosky, Christine M, Bonn, Stefan, Raimundo, Nuno, Milosevic, Ira, Gowrisankaran, Sindhuja, Arora, Amandeep S, Soukup, Sandra-Fausia, Vidal, Ramon, Capece, Vincenzo, Freytag, Siona, Fischer, Andre, Verstreken, Patrik

المصدر: Cell reports 17(4), 1071-1086 (2016). doi:10.1016/j.celrep.2016.09.058

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Acyltransferases: deficiency, Acyltransferases: metabolism, Aging: pathology, Animals, Apoptosis, Ataxia: genetics, Ataxia: pathology, Autophagosomes: metabolism, Autophagy, Brain: metabolism, Forkhead Box Protein O3: genetics, Forkhead Box Protein O3: metabolism, HeLa Cells, Hippocampus: metabolism, Hippocampus: pathology, Homeostasis: genetics, Humans, Male, Mice, Knockout, Movement Disorders: complications, Movement Disorders: pathology, Muscle Proteins: genetics, Muscle Proteins: metabolism, Mutation: genetics, Nerve Degeneration: complications, Nerve Degeneration: pathology, Parkinson Disease: genetics, Parkinson Disease: pathology

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/2211-1247; info:eu-repo/semantics/altIdentifier/issn/2639-1856; info:eu-repo/semantics/altIdentifier/pmid/pmid:27720640; https://pub.dzne.de/record/138839Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-05161%22Test

الإتاحة: https://doi.org/10.1016/j.celrep.2016.09.058Test
https://pub.dzne.de/record/138839Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-05161%22Test