المؤلفون: Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff

المصدر: PLoS ONE, Vol 12, Iss 1, p e0169309 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5215700?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/3540ac85428d464080612b7de6c19184Test

المؤلفون: Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff

المصدر: PLoS ONE, Vol 8, Iss 6, p e66145 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3681964?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/f140a043b13343ffab0860b05d3fe752Test

المؤلفون: Maria Nolano, Neil M. Nathanson, Helge Boman, Beth A. Habecker, Angelika F Hahn, Stefan Johansson, Mariarosa A. B. Melone, Per M. Knappskog, Michael J. Pellegrino

المساهمون: Melone, Mariarosa Anna Beatrice, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge, Melone, Mariarosa A. B., Pellegrino, Michael J., Habecker, Beth A., Nathanson, Neil M., Knappskog, Per M., Hahn, Angelika F.

المصدر: Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Leukemia inhibitory factor receptor, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Medicine, Exome sequencing, 030304 developmental biology, Isodisomy, 0303 health sciences, Heat intolerance, Mutation, Neuroscience (all), integumentary system, business.industry, General Neuroscience, Chromosome, medicine.disease, 3. Good health, Dysplasia, Cholinergic, Neurology (clinical), medicine.symptom, Brief Communications, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f8b21975595694f516f570545fbb8cTest
https://doi.org/10.1002/acn3.126Test

المؤلفون: André Paget, Philippe Nicoud, Charline Henry, Emilie Filhol, Sabine Leh, Fan Yang, Flora Silbermann, Jan Halbritter, Alexandre Benmerah, Arthur Gutter, Friedhelm Hildebrandt, Per M. Knappskog, Anne E.C. Mellgren, Heon Yung Gee, Richard Sandford, Cecilie Bredrup, Dominique Joly, Pauline Krug, Helge Boman, Sophie Saunier, Christine Bole-Feysot, Nurcan Cengiz, Heidi Haugland, Maxence S. Macia, Marion Delous, Damien Brackmann, Nayir Ahmet, Eyvind Rødahl, Andreas W. Sailer, Edward J. Oakeley, Bolan Linghu, Daniela A. Braun, Stefan Johansson, Albane A. Bizet, Patrick Nitschke, Pierre Saint Mézard

المساهمون: Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Harvard Medical School [Boston] (HMS), Universitätsklinikum Leipzig [Germany] (UKL), Haukeland University Hospital, University of Bergen (UiB), Molecular bases of hereditary kidney diseases: nephronophthisis and hypodysplasia (Equipe Inserm U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpitaux du Pays du Mont-Blanc, Førde Central Hospital [Førde, Norway] (FCH), Istanbul University, University of Cambridge [UK] (CAM), Baskent University, Novartis Institutes for Biomedical Research [Cambridge, MA, USA], Novartis Institutes for BioMedical Research (NIBR), Benmerah, Alexandre

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2017, 100 (2), pp.323-333. ⟨10.1016/j.ajhg.2016.12.011⟩

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, 030232 urology & nephrology, Cell Cycle Proteins, [SDV.GEN] Life Sciences [q-bio]/Genetics, 030105 genetics & heredity, MAPKBP1, Kidney, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Mice, 0302 clinical medicine, Spindle Poles, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Zebrafish, Genetics, Mice, Knockout, Cilium, Intracellular Signaling Peptides and Proteins, Kidney Diseases, Cystic, Phenotype, Pedigree, mitotic spindle, Signal Transduction, Adolescent, Mitosis, Late onset, Nerve Tissue Proteins, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, 03 medical and health sciences, Young Adult, Nephronophthisis, retinitis pigmentosa, Ciliogenesis, Report, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Retinitis pigmentosa, medicine, Juvenile, Animals, Humans, digenism, Cilia, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Gene, Alleles, WDR62, [SDV.GEN]Life Sciences [q-bio]/Genetics, Correction, Fibroblasts, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Fibrosis, Human genetics, Ciliopathy, Disease Models, Animal, ciliopathy, 030104 developmental biology, Gene Expression Regulation, nephronophthisis, Mutation, NIH 3T3 Cells, Kidney Failure, Chronic, MAP kinase, 030217 neurology & neurosurgery, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279cce514d4b45826aaf1f82c19587eaTest
https://europepmc.org/articles/PMC5802996Test/

المؤلفون: Helge Boman, Cengiz Yalcinkaya, Ozgur Kasapcopur, Zehra Isik Hasiloglu, Per M. Knappskog, Beyhan Tüysüz

المصدر: Brain and Development. 35:596-601

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Turkey, DNA Mutational Analysis, Mutation, Missense, Sweating, Scoliosis, Fluid-attenuated inversion recovery, Nerve Fibers, Myelinated, White matter, Young Adult, Camptodactyly, Developmental Neuroscience, medicine, Humans, Hyperhidrosis, Missense mutation, Receptors, Cytokine, Kyphoscoliosis, medicine.diagnostic_test, business.industry, Siblings, Brain, Magnetic resonance imaging, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Cold Temperature, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b9fcd15b7cc6e9b869a90f7f45cc04eTest
https://doi.org/10.1016/j.braindev.2012.08.011Test

المؤلفون: Bernarda, Lozic, Stefan, Johansson, Sanja, Lovric Kojundzic, Josko, Markic, Per Morten, Knappskog, Angelika F, Hahn, Helge, Boman

المصدر: Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Brief Communication, Brief Communications

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2aeaaa8d83e99d28bafd2445681be09eTest
https://pubmed.ncbi.nlm.nih.gov/27844033Test

المؤلفون: Angelika F Hahn, Helge Boman, Joško Markić, Sanja Lovric Kojundzic, Per M. Knappskog, Bernarda Lozić, Stefan Johansson

مصطلحات موضوعية: 0301 basic medicine, Nervous system, medicine.medical_specialty, Respiratory distress, business.industry, General Neuroscience, Central apnea, NALCN, sodium leak channel, infancy, Sevoflurane, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Internal medicine, medicine, Missense mutation, Neurology (clinical), Global developmental delay, Circadian rhythm, Respiratory system, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e334e3cff90e83a8bf12b1bf0c310dTest
https://www.bib.irb.hr/921903Test

المؤلفون: Torunn Fiskerstrand, Helge Boman, Jaran Apold, Khanh Pham, Siv L Tonder, Najla Arshad, Stefan Johansson, Rune Rose Tronstad, Sandhya S. Visweswariah, Nils Hovdenak, Bjørn Ivar Haukanes, Bjarte Håvik, Damien Brackman, Kabir H. Biswas, Shawn Levy, Per M. Knappskog

المصدر: New England Journal of Medicine. 366:1586-1595

مصطلحات موضوعية: Diarrhea, Male, Heterozygote, medicine.medical_specialty, Receptors, Peptide, Genetic Linkage, Mutation, Missense, Receptors, Enterotoxin, medicine.disease_cause, Polymorphism, Single Nucleotide, Inflammatory bowel disease, Cystic fibrosis, Proinflammatory cytokine, Internal medicine, medicine, Humans, Missense mutation, Cyclic GMP, Exome sequencing, Mutation, business.industry, Heterozygote advantage, General Medicine, medicine.disease, Pedigree, Endocrinology, Receptors, Guanylate Cyclase-Coupled, Chronic Disease, Female, medicine.symptom, business, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea38f0f1c859db6c73bf439e22f96e4Test
https://doi.org/10.1056/nejmoa1110132Test

المؤلفون: Dario Brunetti, Helge Boman, Aurelio Reyes, Cristina Dallabona, Raffaele Cerutti, Per M. Knappskog, Pedro Teixeira, Carmela Preziuso, Giulia d'Amati, Carlo Viscomi, Stefan Johansson, Enrico Baruffini, Massimo Zeviani, Janniche Torsvik, Ileana Ferrero, Paweł Sztromwasser, Elzbieta Glaser, Laurence A. Bindoff, Wenche Telstad, Paola Goffrini, Erika Fernandez-Vizarra

المساهمون: Reyes Tellez, Aurelio [0000-0003-2876-2202], Viscomi, Carlo [0000-0001-6050-0566], Apollo - University of Cambridge Repository

المصدر: EMBO Molecular Medicine

مصطلحات موضوعية: 0301 basic medicine, Mice, Models, News & Views, Cognitive decline, Inner mitochondrial membrane, 2. Zero hunger, Genetics, Histocytochemistry, Amyloid beta, Mitochondrial disease, Mitochondrial targeting sequence, Neurodegeneration, Pitrilysin 1, Amyloid beta-Peptides, Animals, Brain, Disease Models, Animal, Humans, Magnetic Resonance Imaging, Metalloendopeptidases, Models, Biological, Muscle, Skeletal, Mutant Proteins, Mutation, Missense, Neurodegenerative Diseases, Saccharomyces cerevisiae, Siblings, Skeletal, 3. Good health, Spinocerebellar ataxia, Molecular Medicine, Muscle, amyloid beta, mitochondrial disease, mitochondrial targeting sequence, neurodegeneration, pitrilysin 1, Biology, 03 medical and health sciences, medicine, Animal, medicine.disease, Biological, Molecular biology, 030104 developmental biology, Proteostasis, Metabolism, Disease Models, Mutation, biology.protein, DNAJA3, Genetics, Gene Therapy & Genetic Disease, Missense, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4339bbc44dca653d3a2f51d746413dbbTest
https://pubmed.ncbi.nlm.nih.gov/26813924Test

المؤلفون: Pawel Szymon Sztromwasser, Omar Hikmat, Eylert Brodtkorb, Stefan Johansson, Daniele Ghezzi, Espen Lien, Charalampos Tzoulis, Laurence A. Bindoff, Helge Boman, Per M. Knappskog

المصدر: European Journal of Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Ataxia, Mitochondrial Diseases, Cerebellar Ataxia, Ubiquinone, Mitochondrial disease, Encephalopathy, Epilepsia partialis continua, epilepsiapartialis continua, Diagnosis, Differential, Mitochondrial Proteins, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Mitochondrial Encephalomyopathies, coenzyme Q10, medicine, Humans, stroke-like episodes, Myopathy, Exome sequencing, Muscle Weakness, business.industry, ataxia, medicine.disease, mitochondria, 030104 developmental biology, Phenotype, Neurology, POLG, CABC1, Mutation, Female, Neurology (clinical), medicine.symptom, business, ADCK3, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf76a2445bcc3b9c794ac6dece820221Test
https://pubmed.ncbi.nlm.nih.gov/27106809Test