المؤلفون: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

المصدر: Cells; Volume 11; Issue 19; Pages: 3154

مصطلحات موضوعية: RTN4IP1, founder variant, missense, age of variant, encephalopathy, optic atrophy, in silico pathogenicity prediction, structural modeling

وصف الملف: application/pdf

العلاقة: Organelle Function; https://dx.doi.org/10.3390/cells11193154Test

الإتاحة: https://doi.org/10.3390/cells11193154Test

المؤلفون: Patrizia Amati-Bonneau, Xavier Zanlonghi, Claire-Marie Dhaenens, Gaël Manes, Béatrice Bocquet, Agathe Roubertie, Isabelle Meunier, Guy Lenaers, Majida Charif

المساهمون: Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Mohamed 1 Oujda MAROC, UF Génopathies - Laboratoire de Biochimie et Biologie Moléculaire [Lille] (LBBM), Université de Lille, Sciences et Technologies-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Biochimie et Génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Clinique Jules-Vernes [Nantes], MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), LENAERS, Guy

المصدر: Retina (Philadelphia, Pa.)
RETINA. The Journal of Retinal and Vitreous Diseases
RETINA. The Journal of Retinal and Vitreous Diseases, 2021, 41 (8), pp.1771-1779. ⟨10.1097/IAE.0000000000003054⟩

مصطلحات موضوعية: Male, Visual acuity, genetic structures, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Visual Acuity, inherited optic neuropathy, RTN4IP1, Original Study, Fluorescein Angiography, Child, rod–cone dystrophy, medicine.diagnostic_test, General Medicine, Middle Aged, Pedigree, [SDV] Life Sciences [q-bio], Phenotype, Mitochondrial respiratory chain, Female, medicine.symptom, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Fundus Oculi, Retinal ganglion, Mitochondrial Proteins, Young Adult, Atrophy, Ophthalmology, Electroretinography, medicine, Rod-cone dystrophy, Humans, Retrospective Studies, Cerebellar ataxia, business.industry, recessive disease, Dystrophy, DNA, medicine.disease, eye diseases, Mutation, sense organs, Visual Fields, Carrier Proteins, business, Cone-Rod Dystrophies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::892a0f29b257235a62f4081f242f2811Test
https://doi.org/10.1097/iae.0000000000003054Test

المؤلفون: Maria Pia Manitto, Flavia Palombo, Vincenzo Starace, Piero Barboni, Leonardo Caporali, Valerio Carelli, Francesco Bandello, Maria Lucia Cascavilla, Chiara La Morgia, Alessio Grazioli, Maurizio Battaglia Parodi, Alessandro Arrigo, Firuzeh Rajabian

المساهمون: Rajabian, Firuzeh, Manitto, Maria Pia, Palombo, Flavia, Caporali, Leonardo, Grazioli, Alessio, Starace, Vincenzo, Arrigo, Alessandro, Cascavilla, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Bandello, Francesco, Carelli, Valerio, Battaglia Parodi, Maurizio

المصدر: Journal of Neuro-Ophthalmology. 41:e290-e292

مصطلحات موضوعية: Adult, Retinal Ganglion Cells, Pathology, medicine.medical_specialty, Time Factors, Mitochondrial Proteins, Atrophy, RTN4IP1, medicine, Rod-cone dystrophy, Humans, OPA10, business.industry, Rod Cell Outer Segment, medicine.disease, Phenotype, Optic Atrophy, Ophthalmology, Mutation, Female, Neurology (clinical), Visual Fields, Carrier Proteins, business, Cone-Rod Dystrophies, Tomography, Optical Coherence, Follow-Up Studies

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c51877e00ea1a581a96b53699c3101Test
https://doi.org/10.1097/wno.0000000000001124Test

المؤلفون: Rajabian, Firuzeh, Manitto, Maria Pia, Palombo, Flavia, Caporali, Leonardo, Grazioli, Alessio, Starace, Vincenzo, Arrigo, Alessandro, Cascavilla, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Bandello, Francesco, Carelli, Valerio, Battaglia Parodi, Maurizio

المساهمون: Rajabian, Firuzeh, Manitto, Maria Pia, Palombo, Flavia, Caporali, Leonardo, Grazioli, Alessio, Starace, Vincenzo, Arrigo, Alessandro, Cascavilla, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Bandello, Francesco, Carelli, Valerio, Battaglia Parodi, Maurizio

مصطلحات موضوعية: Rod-cone dystrophy, RTN4IP1, OPA10

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33136666; info:eu-repo/semantics/altIdentifier/wos/WOS:000711807500008; volume:41; issue:3; firstpage:e290; lastpage:e292; numberofpages:2; journal:JOURNAL OF NEURO-OPHTHALMOLOGY; http://hdl.handle.net/11585/864761Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106360281

الإتاحة: https://doi.org/10.1097/WNO.0000000000001124Test
http://hdl.handle.net/11585/864761Test

المؤلفون: Meunier, I., Bocquet, B., Charif, M., DHAENENS, Claire-Marie, Manes, G., Amati-Bonneau, P., Roubertie, A., Zanlonghi, X., Lenaers, G.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: RTN4IP1, rod-cone dystrophy, recessive disease, inherited optic neuropathy

العلاقة: Retina; http://hdl.handle.net/20.500.12210/69589Test

الإتاحة: https://doi.org/20.500.12210/69589Test
https://hdl.handle.net/20.500.12210/69589Test

المؤلفون: Sylvie Gerber, Maxime Hebrard, Patrick Yu-Wai-Man, Josseline Kaplan, Yasmina Talmat-Amar, Gaël Manes, Claire Angebault, Dominique Bonneau, Mireille Rossel, Jean-Michel Rozet, Abdelhamid Barakat, Guy Lenaers, Naïg Gueguen, François Halloy, Christian P. Hamel, Pierre-Olivier Guichet, Isabelle Meunier, Birgit Lorenz, Valerio Carelli, Camille Piro-Mégy, Marisa Teigell, Agathe Roubertie, Mélanie Quiles, Pascal Reynier, Patrick F. Chinnery, Béatrice Bocquet, Lucas Fares-Taie, Markus N. Preising, Majida Charif, Patrizia Amati-Bonneau, Cécile Delettre, Pascale Bomont, David Moore

المساهمون: Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Montpellier 2 - Sciences et Techniques (UM2)-École pratique des hautes études (EPHE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Luca, Gueguen, Naig, Halloy, Françoi, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Marku, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F, Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P, Lenaers, Guy

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 97 (5), pp.754-60. ⟨10.1016/j.ajhg.2015.09.012⟩

مصطلحات موضوعية: Male, Retinal Ganglion Cells, genetic structures, [SDV]Life Sciences [q-bio], Mitochondrion, medicine.disease_cause, Optic neuropathy, syndromic optic neuropathy, Mice, 0302 clinical medicine, RTN4IP1, inherited optic neuropathy, Optic Nerve Diseases, Genetics(clinical), Zebrafish, Genetics (clinical), Cells, Cultured, Genetics, 0303 health sciences, Mutation, biology, Blindness/etiology, ACO2, Prognosis, Cell biology, Mitochondria, Pedigree, medicine.anatomical_structure, Retinal ganglion cell, Female, Erratum, Molecular Sequence Data, Morphogenesis, Genes, Recessive, Mitochondrial Proteins, 03 medical and health sciences, Report, medicine, Gene silencing, Animals, Humans, Amino Acid Sequence, 030304 developmental biology, Electron Transport Complex I, Sequence Homology, Amino Acid, recessive, Fibroblasts, medicine.disease, biology.organism_classification, Human genetics, eye diseases, Case-Control Studies, Nerve Degeneration, sense organs, Carrier Proteins, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347033b04cafb9162e33e77ffd20d71cTest
https://europepmc.org/articles/PMC4667133Test/

المؤلفون: Angebault, Claire, Guichet, Pierre Olivier, Talmat Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Chinnery, Patrick F, Yu Wai Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean Michel, Bomont, Pascale, Hamel, Christian P, Lenaers, Guy, CARELLI, VALERIO

المساهمون: Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Luca, Gueguen, Naig, Halloy, Françoi, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Marku, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F, Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P, Lenaers, Guy

مصطلحات موضوعية: RTN4IP1, syndromic optic neuropathy, recessive

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26593267; info:eu-repo/semantics/altIdentifier/wos/WOS:000364803000011; volume:97; issue:5; firstpage:754; lastpage:760; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11585/525640Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947924596

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.09.012Test
http://hdl.handle.net/11585/525640Test