المؤلفون: Siyuan Jing, Lu Liu, Yifei Li, Fuqiang Liu, Yimin Hua, Hongyu Duan

المصدر: Frontiers in Cardiovascular Medicine, Vol 11 (2024)

مصطلحات موضوعية: CHKB, choline, mitochondria, cardiomyopathy, neurological developmental disorder, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2024.1469237/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/5b75ebee96454499bec71759f66e25f8

المؤلفون: Patel, Bhavin V, Yao, Fanrong, Howenstine, Aidan, Takenaka, Risa, Hyatt, Jacob A, Sears, Karen E, Shewchuk, Brian M

المصدر: Journal of Molecular Biology. 432(23)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Generic health relevance, 3-Hydroxyacyl CoA Dehydrogenases, Acetyl-CoA C-Acyltransferase, Adipose Tissue, Brown, Animals, Biological Evolution, Carbon-Carbon Double Bond Isomerases, Carnitine O-Palmitoyltransferase, Choline Kinase, Enoyl-CoA Hydratase, Eutheria, Female, Mammals, Mitochondria, Phylogeny, Pregnancy, Racemases and Epimerases, brown adipose tissue, CHKB, CPT1B, fatty acid oxidation, conjoined gene, Medicinal and Biomolecular Chemistry, Microbiology, Biochemistry & Molecular Biology, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0hs886f8

المؤلفون: Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi

المصدر: Skeletal Muscle, Vol 12, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Choline kinase beta (CHKB), Megaconial congenital muscular dystrophy, Enlarged mitochondria, Mitochondrial dynamics, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2044-5040

URL الوصول: https://doaj.org/article/09db868ddfdf4d55970f761e53d08dd4

المؤلفون: Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)

مصطلحات موضوعية: CHKB, large deletions, megaconial congenital muscular dystrophy, uniparental disomy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/aeeae55755ff42599abcceada59e5cf9

المؤلفون: Gultekin Kutluk, Naz Kadem, Omer Bektas, Hatice Nur Eroglu

المصدر: Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 694-696 (2020)

مصطلحات موضوعية: autism, chkb, congenital muscular dystrophy, mitochondria, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=694;epage=696;aulast=; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/77a2af28383c4e3d91a5bfeccdc1d8ca

المؤلفون: Marchet, S, Invernizzi, F, Blasevich, F, Bruno, V, Dusi, S, Venco, P, Fiorillo, C, Baranello, G, Pallotti, F, Lamantea, E, Mora, M, Tiranti, V, Lamperti, C

المصدر: Mitochondrion , 47 pp. 24-29. (2019)

مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipids, Mitochondria

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10073868/7/Baranello_Alteration%20of%20mitochondrial%20membrane%20inner%20potential%20in%20three%20Italian%20patients%20with%20megaconial%20congenital%20muscular%20dystrophy_AAM2.pdf; https://discovery.ucl.ac.uk/id/eprint/10073868/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10073868/7/Baranello_Alteration%20of%20mitochondrial%20membrane%20inner%20potential%20in%20three%20Italian%20patients%20with%20megaconial%20congenital%20muscular%20dystrophy_AAM2.pdf
https://discovery.ucl.ac.uk/id/eprint/10073868/

المؤلفون: Risa Takenaka, Jacob A. Hyatt, Brian M. Shewchuk, Bhavin V. Patel, Fanrong Yao, Aidan O. Howenstine, Karen E. Sears

المصدر: Journal of molecular biology, vol 432, iss 23
J Mol Biol

مصطلحات موضوعية: CPT1B, 0302 clinical medicine, Adipose Tissue, Brown, Structural Biology, Pregnancy, Brown adipose tissue, Choline Kinase, Inner mitochondrial membrane, Enoyl-CoA Hydratase, Phylogeny, fatty acid oxidation, Mammals, 0303 health sciences, ATP synthase, biology, Eutheria, 3-Hydroxyacyl CoA Dehydrogenases, Acetyl-CoA C-Acyltransferase, Biological Evolution, Thermogenin, Cell biology, Mitochondria, medicine.anatomical_structure, Adipose Tissue, Mitochondrial matrix, Female, Biochemistry & Molecular Biology, Racemases and Epimerases, Microbiology, Choline kinase beta, Article, 03 medical and health sciences, Medicinal and Biomolecular Chemistry, conjoined gene, medicine, Genetics, Animals, Epigenetics, Molecular Biology, Gene, 030304 developmental biology, Carnitine O-Palmitoyltransferase, Brown, brown adipose tissue, Carbon-Carbon Double Bond Isomerases, CHKB, biology.protein, Generic health relevance, Biochemistry and Cell Biology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ac7b5a9bd9841ac93296a6a5d3c5b1
https://escholarship.org/uc/item/0hs886f8

المؤلفون: Hatice Nur Eroglu, Gultekin Kutluk, Ömer Bektaş, Naz Kadem

المصدر: Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 694-696 (2020)
Annals of Indian Academy of Neurology

مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, congenital muscular dystrophy, Muscle biopsy, medicine.diagnostic_test, business.industry, chkb, autism, Case Reports, medicine.disease, Muscle atrophy, Hypotonia, Choline kinase beta, lcsh:RC346-429, mitochondria, Congenital muscular dystrophy, Medicine, Autism, Neurology (clinical), medicine.symptom, Muscular dystrophy, business, lcsh:Neurology. Diseases of the nervous system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c3471ce3b1242aa94fd8c8354c5110
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=694;epage=696;aulast=

المؤلفون: Lima, Joel Fernandes

Thesis Advisors: Goldman, Gustavo Henrique

مصطلحات موضوعية: Aspergillus nidulans, ChkA, ChkB, Crescimento polar, dano ao DNA, DdbA, DNA damage, Polar growth.

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/60/60135/tde-06062008-162010/

المؤلفون: Marchet S., Invernizzi F., Blasevich F., Bruno V., Dusi S., Venco P., Fiorillo C., Baranello G., Pallotti F., Lamantea E., Mora M., Tiranti V., Lamperti C.

المساهمون: Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V., Lamperti, C.

مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipid, Mitochondria, Child, Preschool, Female, Human, Italy, Membrane Potential, Mitochondrial, Choline Kinase, Muscle, Mitochondrial Membrane, Skeletal, Muscular Dystrophie, Mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30986505; info:eu-repo/semantics/altIdentifier/wos/WOS:000475547200004; volume:47; firstpage:24; lastpage:29; numberofpages:6; journal:MITOCHONDRION; http://hdl.handle.net/11383/2097444; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065039547

الاتاحة: http://hdl.handle.net/11383/2097444
https://doi.org/10.1016/j.mito.2019.04.002

المؤلفون: Federica Invernizzi, Marina Mora, Valeria Tiranti, Eleonora Lamantea, Costanza Lamperti, Chiara Fiorillo, Valentina Bruno, Flavia Blasevich, Giovanni Baranello, Sabrina Dusi, Francesco Pallotti, Paola Venco, Silvia Marchet

مصطلحات موضوعية: 0301 basic medicine, Megaconial CMD, Disease, Biology, Mitochondrion, Membrane Potential, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, JC-1, medicine, Humans, Choline Kinase, Muscle, Skeletal, Inner mitochondrial membrane, Child, Preschool, Molecular Biology, Gene, Membrane Potential, Mitochondrial, Genetics, Membrane potential, Muscle weakness, CHKB, Membrane phospholipids, Mitochondria, Child, Preschool, Female, Italy, Mitochondria, Muscle, Mitochondrial Membranes, Mutation, Cell Biology, Skeletal, medicine.disease, Hypotonia, Mitochondrial, 030104 developmental biology, Congenital muscular dystrophy, Molecular Medicine, Muscle, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::611c8f6f0fd56b88549b541fb7640159
http://hdl.handle.net/11383/2097444

المؤلفون: Vanlander, Arnaud, Muiño Mosquera, Laura, Panzer, Joseph, Deconinck, Tine, Smet, Joél, Seneca, Sara, Van Dorpe, Jo, Ferdinande, Liesbeth, Ceuterick-de Groote, Chantal, De Jonghe, Peter, Van Coster, Rudy, Baets, Jonathan

المصدر: MITOCHONDRION ; ISSN: 1567-7249

مصطلحات موضوعية: Medicine and Health Sciences, Mitochondria, CHKB, OXPHOS, Microscopy, Heart transplantation, CHOLINE KINASE BETA, OXIDATIVE-PHOSPHORYLATION, STRUCTURAL ABNORMALITIES, CHKB GENE, MUTATIONS, ENCEPHALOPATHY, MYOPATHY, TOOL

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/7184708; http://hdl.handle.net/1854/LU-7184708; http://dx.doi.org/10.1016/j.mito.2016.02.001; https://biblio.ugent.be/publication/7184708/file/7185104

الاتاحة: https://biblio.ugent.be/publication/7184708
http://hdl.handle.net/1854/LU-7184708
https://doi.org/10.1016/j.mito.2016.02.001
https://biblio.ugent.be/publication/7184708/file/7185104

المؤلفون: Han, Fang, Lin, Ling, Li, Jing, Aran, Adi, Dong, Song X., An, Pei, Zhao, Long, Li, Qian Y., Yan, Han, Wang, Jie S., Gao, Hui Y., Li, Mei, Gao, Zhan C., Strohl, Kingman P., Mignot, Emmanuel

المساهمون: Han, F (reprint author), Peking Univ Peoples Hosp, Dept Pulm Med, Beijing 100044, Peoples R China., Peking Univ Peoples Hosp, Dept Pulm Med, Beijing 100044, Peoples R China., Stanford Univ, Ctr Sleep Sci, Palo Alto, CA 94304 USA., Case Western Reserve Univ, Dept Med, Div Pulm Crit Care & Sleep Med, Cleveland, OH 44106 USA., Case Western Reserve Univ, Cleveland Louis Stokes VA Med Ctr, Cleveland, OH 44106 USA.

المصدر: PubMed ; SCI

مصطلحات موضوعية: Narcolepsy, TCR alpha, P2RY11, CPT1B/CHKB, Hypocretin, Orexin, MSLT, HLA-DQB1(*)0602, ETHNIC-GROUPS, CATAPLEXY, SUSCEPTIBILITY, HYPERSOMNIAS, RISK, CHKB

Relation: SLEEP MEDICINE.2012,13,(3),269-272.; 661593; http://hdl.handle.net/20.500.11897/159408; WOS:000301695600008

الاتاحة: https://hdl.handle.net/20.500.11897/159408
https://doi.org/10.1016/j.sleep.2011.06.020

المؤلفون: Joel Fernandes Lima

Thesis Advisors: Gustavo Henrique Goldman, Joao Atilio Jorge, Nadia Monesi

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Aspergillus nidulans, ChkA, ChkB, Crescimento polar, dano ao DNA, DdbA, DNA damage, Polar growth.

الاتاحة: http://www.teses.usp.br/teses/disponiveis/60/60135/tde-06062008-162010/

المؤلفون: Lima, Joel Fernandes

المساهمون: Goldman, Gustavo Henrique

مصطلحات موضوعية: Aspergillus nidulans, ChkA, ChkB, Crescimento polar, dano ao DNA, DdbA, DNA damage, Keywords: Aspergillus nidulans, Polar growth.

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/60/60135/tde-06062008-162010/