المؤلفون: Roberta Filograna, Jule Gerlach, Hae-Na Choi, Giovanni Rigoni, Michela Barbaro, Mikael Oscarson, Seungmin Lee, Katarina Tiklova, Markus Ringnér, Camilla Koolmeister, Rolf Wibom, Sara Riggare, Inger Nennesmo, Thomas Perlmann, Anna Wredenberg, Anna Wedell, Elisa Motori, Per Svenningsson, Nils-Göran Larsson

المصدر: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-14 (2024)

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

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2373-8057

URL الوصول: https://doaj.org/article/5261e43905b84e29a138f193cac7150a

المؤلفون: Alexandra Argyriou, Begum Horuluoglu, Angeles Shunashy Galindo‐Feria, Juan Sebastian Diaz‐Boada, Merel Sijbranda, Antonella Notarnicola, Lara Dani, Annika vanVollenhoven, Daniel Ramsköld, Inger Nennesmo, Maryam Dastmalchi, Ingrid E Lundberg, Lina‐Marcela Diaz‐Gallo, Karine Chemin

المصدر: EMBO Molecular Medicine, Vol 15, Iss 10, Pp n/a-n/a (2023)

مصطلحات موضوعية: HOBIT, idiopathic inflammatory myopathies, muscle, T‐cell receptor, tissue resident memory T cells, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/519cb2dbb575461b8332ff8697b46eb1

المؤلفون: Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lindstrand, Malin Kvarnung

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: neuromuscular disorders, genome sequencing, single nucleotide variant, structural variant, repeat expansion, ataxia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1170005/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/279974e3e659446ebf76b3c16f6f97bf

المؤلفون: Piotr Szczesny, Simone Barsotti, Inger Nennesmo, Olof Danielsson, Maryam Dastmalchi

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: immune-mediated necrotizing myopathy (IMNM), anti-HMGCR, statin, dermatomyositis, idiopathic inflammatory myopathy, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.866701/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/300a48f7ac4b4ec4b0fb51eee6fb048a

المؤلفون: Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Mitochondrial disorder, Respiratory chain, Respirometry, Assembly factors, Blue native gel electrophoresis, Encephalopathy, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0624-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4f5b4fca633f4964a3749feb2ec9be5e

المؤلفون: Humberto D.J. Gonzalez Marrero, Erik V. Stålberg, Gerald Cooray, Rebeca Corpeno Kalamgi, Yvette Hedström, Bo-Michael Bellander, Inger Nennesmo, Lars Larsson

المصدر: Diagnostics, Vol 10, Iss 11, p 966 (2020)

مصطلحات موضوعية: critical care, myosin, myopathy, ENeG, EMG, CMAP, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/10/11/966; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/ea035c51a85740beb6841d5bf410fe38

المؤلفون: Martin Paucar, Inger Nennesmo, Per Svenningsson

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: FXTAS, CBS, PSP, FMR1, RAN translation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00317/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d0f4a9538de14b119bc5edc21b85e235

المؤلفون: Rui-Sheng Duan, Zhiguo Chen, Lei Bao, Hernan Concha Quezada, Inger Nennesmo, Bengt Winblad, Jie Zhu

المصدر: Neurobiology of Disease, Vol 16, Iss 3, Pp 630-637 (2004)

مصطلحات موضوعية: CCR5, Experimental autoimmune neuritis, Guillain–Barré syndrome, IP-10, MIP-1β, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S096999610400097X; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/bcf494bddf324272ba445a58837acbbb

المؤلفون: Izabella Baranowska, Karin Hultin Jäderlund, Inger Nennesmo, Erik Holmqvist, Nadja Heidrich, Nils-Göran Larsson, Göran Andersson, E Gerhart H Wagner, Ake Hedhammar, Rolf Wibom, Leif Andersson

المصدر: PLoS Genetics, Vol 5, Iss 5, p e1000499 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2683749?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/8bd97717facb4d19912bded5296bf99f

المؤلفون: Inga Tjäder, Maria Klaude, Ali Ait Hssain, Christelle Guillet, Inger Nennesmo, Jan Wernerman, Olav Rooyackers

المصدر: Nutrients; Volume 14; Issue 18; Pages: 3733

مصطلحات موضوعية: protein synthesis, stable isotopes, muscle morphology, multiple organ failure

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Clinical Nutrition; https://dx.doi.org/10.3390/nu14183733

الاتاحة: https://doi.org/10.3390/nu14183733

المؤلفون: Zsolt Cselényi, Johan Wallin, Jonathan Tjerkoski, Björn Bloth, Samuel Svensson, Inger Nennesmo, Dan Sunnemark, Vesna Jelic, Lars Farde, Per Svenningsson

المصدر: Synapse. 77

مصطلحات موضوعية: Cellular and Molecular Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a17048c5f03384b3d040d7ed5c4f50db
https://doi.org/10.1002/syn.22269

المؤلفون: Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Thomas T Warner, Zane Jaunmuktane, Bradley F Boeve, Elizabeth A Christopher, Michael DeTure, Ranjan Duara, Neill R Graff-Radford, Keith A Josephs, David S Knopman, Shunsuke Koga, Melissa E Murray, Kelly E Lyons, Rajesh Pahwa, Joseph E Parisi, Ronald C Petersen, Jennifer Whitwell, Lea T Grinberg, Bruce Miller, Athena Schlereth, William W Seeley, Salvatore Spina, Murray Grossman, David J Irwin, Edward B Lee, EunRan Suh, John Q Trojanowski, Vivianna M Van Deerlin, David A Wolk, Theresa R Connors, Patrick M Dooley, Matthew P Frosch, Derek H Oakley, Iban Aldecoa, Mircea Balasa, Ellen Gelpi, Sergi Borrego-Écija, Rosa Maria de Eugenio Huélamo, Jordi Gascon-Bayarri, Raquel Sánchez-Valle, Pilar Sanz-Cartagena, Gerard Piñol-Ripoll, Laura Molina-Porcel, Eileen H Bigio, Margaret E Flanagan, Tamar Gefen, Emily J Rogalski, Sandra Weintraub, Javier Redding-Ochoa, Koping Chang, Juan C Troncoso, Stefan Prokop, Kathy L Newell, Bernardino Ghetti, Matthew Jones, Anna Richardson, Andrew C Robinson, Federico Roncaroli, Julie Snowden, Kieren Allinson, Oliver Green, James B Rowe, Poonam Singh, Thomas G Beach, Geidy E Serrano, Xena E Flowers, James E Goldman, Allison C Heaps, Sandra P Leskinen, Andrew F Teich, Sandra E Black, Julia L Keith, Mario Masellis, Istvan Bodi, Andrew King, Safa-Al Sarraj, Claire Troakes, Glenda M Halliday, John R Hodges, Jillian J Kril, John B Kwok, Olivier Piguet, Marla Gearing, Thomas Arzberger, Sigrun Roeber, Johannes Attems, Christopher M Morris, Alan J Thomas, Bret M. Evers, Charles L White, Naguib Mechawar, Anne A Sieben, Patrick P Cras, Bart B De Vil, Peter Paul P.P. De Deyn, Charles Duyckaerts, Isabelle Le Ber, Danielle Seihean, Sabrina Turbant-Leclere, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, John F Ervin, Shih-Hsiu J Wang, Caroline Graff, Inger Nennesmo, Rashed M Nagra, James Riehl, Gabor G Kovacs, Giorgio Giaccone, Benedetta Nacmias, Manuela Neumann, Lee-Cyn Ang, Elizabeth C Finger, Cornelis Blauwendraat, Mike A Nalls, Andrew B Singleton, Dan Vitale, Cristina Cunha, Agostinho Carvalho, Zbigniew K Wszolek, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ross

المصدر: medRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb436da4c7362a38f76655e19fddf0a
https://europepmc.org/articles/PMC10168402/

المؤلفون: José Miguel Laffita-Mesa, Abbe Ullgren, Inger Nennesmo, Kalicharan Patra, Linn Öijerstedt, Behzad Khoshnood, Caroline Graff

المصدر: Journal of Neurology. 269:3037-3049

مصطلحات موضوعية: Mutation, biology, Neurodegeneration, Frontotemporal lobar degeneration, medicine.disease, medicine.disease_cause, Neurology, Ubiquitin, TANK-binding kinase 1, Cancer research, biology.protein, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, Haploinsufficiency, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee2115a6d25eb57481362373aa8c7fea
https://doi.org/10.1007/s00415-021-10887-x

المؤلفون: Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lindstrand, Malin Kvarnung

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuromuscular disorders, genome sequencing, single nucleotide variant, structural variant, repeat expansion, ataxia

Relation: https://figshare.com/articles/dataset/Table_3_Genome_sequencing_with_comprehensive_variant_calling_identifies_structural_variants_and_repeat_expansions_in_a_large_fraction_of_individuals_with_ataxia_and_or_neuromuscular_disorders_xlsx/22918205

الاتاحة: https://doi.org/10.3389/fneur.2023.1170005.s003
https://figshare.com/articles/dataset/Table_3_Genome_sequencing_with_comprehensive_variant_calling_identifies_structural_variants_and_repeat_expansions_in_a_large_fraction_of_individuals_with_ataxia_and_or_neuromuscular_disorders_xlsx/22918205

المؤلفون: Inger Nennesmo, Maria Wilcke, Elin M. Swärd

المصدر: Journal of Wrist Surgery

مصطلحات موضوعية: Population, 030209 endocrinology & metabolism, myelinated fiber, Osteoarthritis, Wrist pain, Wrist, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, medicine, Scientific Article, Orthopedics and Sports Medicine, nerve morphology, skin and connective tissue diseases, education, Pathological, 030222 orthopedics, education.field_of_study, business.industry, Anatomy, medicine.disease, wrist osteoarthritis, Wrist osteoarthritis, Posterior interosseous nerve, medicine.anatomical_structure, peripheral nerve, posterior interosseous nerve, Surgery, sense organs, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cb7741630619e767ad4efdbdb8cc58d
https://doi.org/10.1055/s-0040-1713655

المؤلفون: Piotr Szczesny, Simone Barsotti, Inger Nennesmo, Olof Danielsson, Maryam Dastmalchi

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, immune-mediated necrotizing myopathy (IMNM), anti-HMGCR, statin, dermatomyositis, idiopathic inflammatory myopathy

Relation: https://figshare.com/articles/dataset/Table_1_Screening_for_Anti-HMGCR_Antibodies_in_a_Large_Single_Myositis_Center_Reveals_Infrequent_Exposure_to_Statins_and_Diversiform_Presentation_of_the_Disease_pdf/19703008

الاتاحة: https://doi.org/10.3389/fimmu.2022.866701.s001
https://figshare.com/articles/dataset/Table_1_Screening_for_Anti-HMGCR_Antibodies_in_a_Large_Single_Myositis_Center_Reveals_Infrequent_Exposure_to_Statins_and_Diversiform_Presentation_of_the_Disease_pdf/19703008

المؤلفون: Behzad, Khoshnood, Abbe, Ullgren, Jose, Laffita-Mesa, Linn, Öijerstedt, Kalicharan, Patra, Inger, Nennesmo, Caroline, Graff

المصدر: Journal of neurology. 269(6)

مصطلحات موضوعية: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Mutation, Ubiquitination, Brain, Humans, Neurodegenerative Diseases, Haploinsufficiency, Fibroblasts, Protein Serine-Threonine Kinases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ceb069a518f31d93d3806a04c8210230
https://pubmed.ncbi.nlm.nih.gov/34800171

المؤلفون: Mona-Lisa Malarte, Niina A. Koistinen, Inger Nennesmo, Amit Kumar, Laetitia Lemoine, Martin Ingelsson, Agneta Nordberg, Bernardino Ghetti

المصدر: Molecular Psychiatry

مصطلحات موضوعية: 0301 basic medicine, Indoles, High interest, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Alzheimer Disease, medicine, Humans, Pet tracer, Binding site, Molecular Biology, Binding Sites, medicine.diagnostic_test, Chemistry, Imidazoles, Neurosciences, Brain, Diagnostic markers, medicine.disease, Molecular biology, Astrogliosis, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Positron emission tomography, Astrocytes, Positron-Emission Tomography, Pet ligand, 030217 neurology & neurosurgery, Neurovetenskaper, Neuroscience, Astrocyte

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81badf65a824acf46e1487e06778691c
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-462858

المؤلفون: Najmeh Ahangari, Carola Hedberg-Oldfors, Yalda Nilipour, Evmorfia Petropoulou, Anders Oldfors, Yalda Jamshidi, Barbara Vona, Kittichate Visuttijai, Mehdi Taherpour, Malin Edling, Daniel P. S. Osborn, Rakesh Kumar Banote, Alexandra Abramsson, Henrik Zetterberg, Jaipreet Bharj, Olof Danielsson, Afsoon Fazlinezhad, Marcela Dávila López, Mohammad Doosti, Ehsan Ghayoor Karimiani, Reza Maroofian, Laila Hubbert, Azza Shoreim, Inger Nennesmo

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Genetic Linkage, Cardiomyopathy, macromolecular substances, 030204 cardiovascular system & hematology, medicine.disease_cause, Bioinformatics, Desmin, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Animals, Humans, cardiovascular diseases, Molecular Biology, Zebrafish, Genetics (clinical), Exome sequencing, Heart Failure, Mutation, biology, Homozygote, Hypertrophic cardiomyopathy, Arrhythmias, Cardiac, General Medicine, Cardiomyopathy, Hypertrophic, biology.organism_classification, medicine.disease, Pedigree, Repressor Proteins, Disease Models, Animal, 030104 developmental biology, Death, Sudden, Cardiac, Phenotype, Heart failure, biology.protein, cardiovascular system, Female, General Article, Cullin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2b73409aaa85fbc3ca2f43cf07ddce
http://europepmc.org/articles/PMC6812045

المؤلفون: Henrik Stranneheim, Arnaud Mourier, Rolf Wibom, Anna Wredenberg, Karin Naess, Anna Wedell, Nicole Lesko, Ulrika von Döbeln, Martin Engvall, Helene Bruhn, Inger Nennesmo, Christoph Freyer

المساهمون: Institut de biochimie et génétique cellulaires (IBGC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS)

المصدر: The Journal of Pediatrics
The Journal of Pediatrics, 2020, ⟨10.1016/j.jpeds.2020.08.025⟩

مصطلحات موضوعية: Adult, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Ubiquinone, DNA Mutational Analysis, Respiratory chain, Disease, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Bioinformatics, DNA, Mitochondrial, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Metabolic Diseases, 030225 pediatrics, Exome Sequencing, Medicine, Humans, 030212 general & internal medicine, Child, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Whole genome sequencing, Massive parallel sequencing, business.industry, Infant, Newborn, Infant, Hypotonia, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, Mitochondrial respiratory chain, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd6dec265aa2090ca17285cf3984c1a4
https://pubmed.ncbi.nlm.nih.gov/32966804