المؤلفون: Hai Xu, Kai Ma, Yuye Gao, Qijun Song, Chaojin Chen, Xiao Xu, Jiaxi Peng, Yan Sun

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

مصطلحات موضوعية: acute neurologic regression, IBA57, mitochondrial diseases, multiple mitochondrial dysfunction syndrome (MMDS), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/b892e55650e34d7c9b19cd8e6df3f216Test

المؤلفون: Rodrigues, Leonor Ladeira

المساهمون: Coelho, Joana, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Substância branca, Leucodistrofia, Gene IBA57, Fosforilação oxidativa, Pediatria, Domínio/Área Científica::Ciências Médicas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10451/64382Test

المؤلفون: Xu, Hai, Ma, Kai, Gao, Yuye, Song, Qijun, Chen, Chaojin, Xu, Xiao, Peng, Jiaxi, Sun, Yan

المصدر: Mol Genet Genomic Med ; ISSN:2324-9269 ; Volume:12 ; Issue:6

مصطلحات موضوعية: IBA57, acute neurologic regression, mitochondrial diseases, multiple mitochondrial dysfunction syndrome (MMDS)

العلاقة: https://doi.org/10.1002/mgg3.2485Test; https://pubmed.ncbi.nlm.nih.gov/38923322Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11199327Test/

الإتاحة: https://doi.org/10.1002/mgg3.2485Test
https://pubmed.ncbi.nlm.nih.gov/38923322Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11199327Test/

المؤلفون: Steven H. Lang, Francesca Camponeschi, Evan de Joya, Paulo Borjas-Mendoza, Mustafa Tekin, Willa Thorson

المصدر: Genes, Vol 13, Iss 11, p 2044 (2022)

مصطلحات موضوعية: multiple mitochondrial dysfunction syndrome, MMDS, IBA57, iron-sulfur clusters, leukoencephalopathy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/11/2044Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/33ed45f81a6d4dfaa8749bc1182b1ab9Test

المؤلفون: Lebigot, Elise, Schiff, Manuel, Golinelli-Cohen, Marie-Pierre

المساهمون: Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de pédiatrie générale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Institut de Chimie des Substances Naturelles (ICSN), Institut de Chimie - CNRS Chimie (INC-CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 2227-9059 ; Biomedicines ; https://hal.science/hal-03368230Test ; Biomedicines, 2021, 9, ⟨10.3390/biomedicines9080989⟩.

مصطلحات موضوعية: Lebigot, Schiff, Golinelli-Cohen, M.-P. A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation MMDS, Fe-S proteins, NFU1, IBA57, BOLA3, ISCA1, ISCA2, [SDV]Life Sciences [q-bio]

العلاقة: hal-03368230; https://hal.science/hal-03368230Test; https://hal.science/hal-03368230/documentTest; https://hal.science/hal-03368230/file/Lebigot%202021.pdfTest

الإتاحة: https://doi.org/10.3390/biomedicines9080989Test
https://hal.science/hal-03368230Test
https://hal.science/hal-03368230/documentTest
https://hal.science/hal-03368230/file/Lebigot%202021.pdfTest

المؤلفون: Elise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-Cohen

المصدر: Biomedicines; Volume 9; Issue 8; Pages: 989

مصطلحات موضوعية: MMDS, Fe-S proteins, NFU1, IBA57, BOLA3, ISCA1, ISCA2

وصف الملف: application/pdf

العلاقة: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines9080989Test

الإتاحة: https://doi.org/10.3390/biomedicines9080989Test

المؤلفون: Rodrigues, Leonor Ladeira

المساهمون: Coelho, Joana

مصطلحات موضوعية: Substância branca, Leucodistrofia, Gene IBA57, Fosforilação oxidativa, Pediatria, Domínio/Área Científica::Ciências Médicas

العلاقة: http://hdl.handle.net/10451/64382Test; 203404351

الإتاحة: http://hdl.handle.net/10451/64382Test

المؤلفون: Marie-Pierre Golinelli-Cohen, Elise Lebigot, Manuel Schiff

المساهمون: Institut de Chimie des Substances Naturelles (ICSN), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)

المصدر: Biomedicines
Biomedicines, MDPI, 2021, 9, ⟨10.3390/biomedicines9080989⟩
Biomedicines, Vol 9, Iss 989, p 989 (2021)

مصطلحات موضوعية: QH301-705.5, [SDV]Life Sciences [q-bio], Medicine (miscellaneous), Review, Oxidative phosphorylation, Biology, NFU1, Bioinformatics, Genetic analysis, MMDS, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, M, Leukoencephalopathy, IBA57, 03 medical and health sciences, 0302 clinical medicine, Genotype, medicine, E, ISCA2, Lebigot, ISCA1, Biology (General), Gene, Exome sequencing, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Syndromes Associated with Defective Fe-S Protein Maturation MMDS, Schiff, Dilated cardiomyopathy, M.-P. A Review of Multiple Mitochondrial Dysfunction Syndromes, medicine.disease, Golinelli-Cohen, 3. Good health, Fe-S proteins, BOLA3, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca739d7f62f9ec36757e052d6568e9adTest
https://hal.archives-ouvertes.fr/hal-03368230/documentTest

المؤلفون: Roland, Mélanie

المساهمون: Interactions Arbres-Microorganismes (IAM), Institut National de la Recherche Agronomique (INRA)-Université de Lorraine (UL), Université de Lorraine, Nicolas Rouhier, Jérémy Couturier, ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: Biologie végétale. Université de Lorraine, 2019. Français. ⟨NNT : 2019LORR0235⟩

مصطلحات موضوعية: NFU, IBA57, Fe-S cluster, Chloroplaste, Arabidopsis, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Chloroplast, SUFA, Centres Fe-S

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2592::29bbac972f6aefe3a5a25ee1be41b374Test
https://hal.univ-lorraine.fr/tel-02553538Test

المؤلفون: Roland, Mélanie

المساهمون: Interactions Arbres-Microorganismes (IAM), Institut National de la Recherche Agronomique (INRA)-Université de Lorraine (UL), Université de Lorraine, Nicolas Rouhier, Jérémy Couturier, ANR-15-IDEX-0004,LUE,Isite LUE(2015), UL, Thèses, ISITE - Isite LUE - - LUE2015 - ANR-15-IDEX-0004 - IDEX - VALID

المصدر: Biologie végétale. Université de Lorraine, 2019. Français. ⟨NNT : 2019LORR0235⟩

مصطلحات موضوعية: NFU, IBA57, Fe-S cluster, Chloroplaste, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Arabidopsis, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, [SDV.BV] Life Sciences [q-bio]/Vegetal Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Chloroplast, SUFA, Centres Fe-S

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29bbac972f6aefe3a5a25ee1be41b374Test
https://hal.univ-lorraine.fr/tel-02553538Test