المؤلفون: Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7Test

المؤلفون: Raul Juntas Morales, Aurélien Perrin, Guilhem Solé, Delphine Lacourt, Henri Pegeot, Ulrike Walther-Louvier, Pascal Cintas, Claude Cances, Caroline Espil, Corinne Theze, Reda Zenagui, Kevin Yauy, Elodie Cosset, Dimitri Renard, Valerie Rigau, Andre Maues de Paula, Emmanuelle Uro-Coste, Marie-Christine Arne-Bes, Marie-Laure Martin Négrier, Nicolas Leboucq, Blandine Acket, Edoardo Malfatti, Valérie Biancalana, Corinne Metay, Pascale Richard, John Rendu, François Rivier, Michel Koenig, Mireille Cossée

المصدر: Genes; Volume 12; Issue 8; Pages: 1199

مصطلحات موضوعية: myopathies, next generation sequencing, deep phenotyping, inter-individual variability, atypical phenotype-genotype associations

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081199Test

الإتاحة: https://doi.org/10.3390/genes12081199Test

المؤلفون: Franziska Nuber, Johannes Schimpf, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Vincent Procaccio, Marie-Laure Martin-Negrier, Aurélien Trimouille, Olivier Biner, Christoph von Ballmoos, Thorsten Friedrich

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1038/s41598-021-91631-3Test; https://doaj.org/toc/2045-2322Test; https://doaj.org/article/26652c8a0a244e3ead826a846ee6b58dTest

الإتاحة: https://doi.org/10.1038/s41598-021-91631-3Test
https://doaj.org/article/26652c8a0a244e3ead826a846ee6b58dTest

المؤلفون: Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, Cyril Goizet, Yaniss Belaroussi, Sacha Schutz, Guilhem Solé, Christian Combe, Marie-Laure Martin-Negrier, Claire Rigothier

المصدر: Clinical Kidney Journal. 16:100-110

مصطلحات موضوعية: Transplantation, Nephrology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::173861d4b7754a9ff467e4fe2eb35219Test
https://doi.org/10.1093/ckj/sfac195Test

المؤلفون: Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Vanishing white matter disease, Foetal neuropathology, Whole exome sequencing, Diagnosis, Pathophysiology, Neurology. Diseases of the nervous system, RC346-429

العلاقة: http://link.springer.com/article/10.1186/s40478-020-00929-2Test; https://doaj.org/toc/2051-5960Test; https://doaj.org/article/8c691012645f42059f22d1f2c7825268Test

الإتاحة: https://doi.org/10.1186/s40478-020-00929-2Test
https://doaj.org/article/8c691012645f42059f22d1f2c7825268Test

المؤلفون: Aurélien Trimouille, Naïg Gueguen, C. Rouzier, Pascal Reynier, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Marie Laure Martin-Negrier, Claude Jardel, Samira Ait-El-Mkadem Saadi, Magalie Barth, Julien Cassereau, Franck Letournel, David Goudenège, Céline Bris, Benoit Rucheton, Estelle Colin, Magot Armelle, Stéphane Allouche, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Abdel Slama, Yann Péréon, Valérie Desquiret-Dumas, Vincent Procaccio, Guy Lenaers, Pauline Gaignard, Marco Spinazzi

المصدر: Genetics in Medicine. 23:1769-1778

مصطلحات موضوعية: Adult, Genetics, Mitochondrial DNA, Mitochondrial Diseases, Nuclear gene, Mitochondrial disease, Breakpoint, Mitochondrial genome maintenance, High-Throughput Nucleotide Sequencing, Biology, medicine.disease, DNA, Mitochondrial, Heteroplasmy, Human genetics, Mitochondria, Genome, Mitochondrial, medicine, Humans, Gene, Genetics (clinical), Sequence Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c88d8af60a7573cbd1bcf5d6aa075aTest
https://doi.org/10.1038/s41436-021-01206-wTest

المؤلفون: Marie Laure Martin Negrier, John Rendu, François Rivier, Valérie Rigau, Emmanuelle Uro-Coste, Henri Pegeot, Anne Cécile Coville, Delphine Lacourt, Raul Juntas Morales, Caroline Espil-Taris, Claude Cances, Mireille Cossée, Pierre Beze-Beyrie, C. Thèze, Marie-Céline François-Heude, Ulrike Walther-Louvier, Eloise Baudou

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)

المصدر: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2021, ⟨10.1016/j.ejpn.2021.01.011⟩

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Neuromuscular disease, [SDV]Life Sciences [q-bio], Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Exome sequencing, Retrospective Studies, Whole genome sequencing, Sanger sequencing, Respiratory Distress Syndrome, Newborn, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Retrospective cohort study, Neuromuscular Diseases, General Medicine, medicine.disease, Congenital myopathy, Hypotonia, 3. Good health, Pediatrics, Perinatology and Child Health, symbols, Congenital muscular dystrophy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0275fb6ba8733e9138b0f518c80eb7Test
https://doi.org/10.1016/j.ejpn.2021.01.011Test

المؤلفون: Pedro Barroso-Chinea, Marie-Laure Thiolat, Simone Bido, Audrey Martinez, Evelyne Doudnikoff, Jérôme Baufreton, Mathieu Bourdenx, Bertrand Bloch, Erwan Bezard, Marie-Laure Martin-Negrier

المصدر: Neurobiology of Disease, Vol 78, Iss , Pp 77-87 (2015)

مصطلحات موضوعية: Dopamine D1 receptor, Dyskinesia, Cellular localization, Membrane anchoring, Proteasome, Catalytic activity, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996115000595Test; https://doaj.org/toc/1095-953XTest; https://doaj.org/article/7e4b796257a940298c5e6c62ce104645Test

الإتاحة: https://doi.org/10.1016/j.nbd.2015.02.024Test
https://doaj.org/article/7e4b796257a940298c5e6c62ce104645Test

المؤلفون: Wai Kin D. Ko, Marie-Laure Martin-Negrier, Erwan Bezard, Alan R. Crossman, Paula Ravenscroft

المصدر: Neurobiology of Disease, Vol 70, Iss , Pp 138-148 (2014)

مصطلحات موضوعية: RGS4, Parkinson's disease, l-DOPA-induced dyskinesia, Abnormal involuntary movements, Antisense oligonucleotides, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996114001776Test; https://doaj.org/toc/1095-953XTest; https://doaj.org/article/0eba9eb1536e4ed38ed0e101b9f9182eTest

الإتاحة: https://doi.org/10.1016/j.nbd.2014.06.013Test
https://doaj.org/article/0eba9eb1536e4ed38ed0e101b9f9182eTest

المؤلفون: Isabelle Redonnet, Romain Boulestreau, Agathe Vermorel, Claire Rigothier, Cyril Goizet, Didier Lacombe, Hugo Bakis, Christian Combe, Aurélien Trimouille, Marie-Laure Martin-Negrier

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine, MT-ND5, Biology, Phenotype, Interstitial nephropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594dfdb64e56506a4aa248255b78afd0Test
https://doi.org/10.1111/cge.13670/v3/response1Test