المؤلفون: Inês Filipa Mendes, Sara Completo, Rita Vieira de Carvalho, Sandra Jacinto, Sandra Schäfer, Paula Correia, Maria João Brito, António Figueiredo

المصدر: Acta Médica Portuguesa (2023)

مصطلحات موضوعية: Child, Portugal, Salmonella enterica, Salmonella Infections, Typhoid Fever, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18906; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

URL الوصول: https://doaj.org/article/6639785fc07f4a99bde4a03c7304b06b

المؤلفون: Sandra Jacinto, Patrícia Guerreiro, Rita Machado de Oliveira, Teresa Cunha-Oliveira, Maria João Santos, Manuela Grazina, Ana Cristina Rego, Tiago F. Outeiro

المصدر: Frontiers in Cellular Neuroscience, Vol 15 (2021)

مصطلحات موضوعية: Mpv17 mutations, mitochondrial depletion syndrome, mitochondrial dysfunction, protein mislocation, neurode generation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2021.641264/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/b8f692006b384bc7a1e12a199719fd52

المؤلفون: Maryam Ahmadian, Sihao Liu, Shannon M. Reilly, Nasun Hah, Weiwei Fan, Eiji Yoshihara, Pooja Jha, C. Daniel De Magalhaes Filho, Sandra Jacinto, Andrew V. Gomez, Yang Dai, Ruth T. Yu, Christopher Liddle, Annette R. Atkins, Johan Auwerx, Alan R. Saltiel, Michael Downes, Ronald M. Evans

المصدر: Cell Reports, Vol 22, Iss 11, Pp 2849-2859 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124718302559; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/db188ce91c5d4a32be3ccb91d3f63eb7

المؤلفون: Pedro Marques, Sandra Jacinto, Maria do Carmo Pinto, Catarina Limbert, Lurdes Lopes

المصدر: Case Reports in Pediatrics, Vol 2016 (2016)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6803; https://doaj.org/toc/2090-6811

URL الوصول: https://doaj.org/article/d4915f993f9e479189f0a5e8bcd5b136

المؤلفون: Sandra Jacinto (10317962), Patrícia Guerreiro (659837), Rita Machado de Oliveira (10317965), Teresa Cunha-Oliveira (10317968), Maria João Santos (10317971), Manuela Grazina (10317974), Ana Cristina Rego (10317977), Tiago F. Outeiro (191379)

مصطلحات موضوعية: Cell Biology, Neuroscience, Cellular Nervous System, Central Nervous System, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Protein Trafficking, Mpv17 mutations, mitochondrial depletion syndrome, mitochondrial dysfunction, protein mislocation, neurode generation

Relation: https://figshare.com/articles/presentation/Presentation_1_MPV17_Mutations_Are_Associated_With_a_Quiescent_Energetic_Metabolic_Profile_PPTX/14230193

الاتاحة: https://doi.org/10.3389/fncel.2021.641264.s001

المؤلفون: Connor Yanchus, Kristen L. Drucker, Thomas M. Kollmeyer, Ricky Tsai, Warren Winick-Ng, Minggao Liang, Ahmad Malik, Judy Pawling, Silvana B. De Lorenzo, Asma Ali, Paul A. Decker, Matt L. Kosel, Arijit Panda, Khalid N. Al-Zahrani, Lingyan Jiang, Jared W. L. Browning, Chris Lowden, Michael Geuenich, J. Javier Hernandez, Jessica T. Gosio, Musaddeque Ahmed, Sampath Kumar Loganathan, Jacob Berman, Daniel Trcka, Kulandaimanuvel Antony Michealraj, Jerome Fortin, Brittany Carson, Ethan W. Hollingsworth, Sandra Jacinto, Parisa Mazrooei, Lily Zhou, Andrew Elia, Mathieu Lupien, Housheng Hansen He, Daniel J. Murphy, Liguo Wang, Alexej Abyzov, James W. Dennis, Philipp G. Maass, Kieran Campbell, Michael D. Wilson, Daniel H. Lachance, Margaret Wrensch, John Wiencke, Tak Mak, Len A. Pennacchio, Diane E. Dickel, Axel Visel, Jeffrey Wrana, Michael D. Taylor, Gelareh Zadeh, Peter Dirks, Jeanette E. Eckel-Passow, Liliana Attisano, Ana Pombo, Cristiane M. Ida, Evgeny Z. Kvon, Robert B. Jenkins, Daniel Schramek

المصدر: Science

مصطلحات موضوعية: Mice, Multidisciplinary, Brain Neoplasms, Mutation, Animals, Humans, Glioma, Polymorphism, Single Nucleotide, Article, Isocitrate Dehydrogenase, Chromosomes, Human, Pair 8

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee0962bd008ed19485d953421b33939b
https://doi.org/10.1126/science.abj2890

المؤلفون: Zhuoxin Chen, Valentina Snetkova, Grace Bower, Sandra Jacinto, Benjamin Clock, Iros Barozzi, Brandon J. Mannion, Ana Alcaina-Caro, Javier Lopez-Rios, Diane E. Dickel, Axel Visel, Len A. Pennacchio, Evgeny Z. Kvon

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8e72b38cf66716fbe30c3f522482be82
https://doi.org/10.1101/2022.11.18.516017

المؤلفون: Sandra Jacinto, Margarida Henriques, Teresa Ferreira, Glória Carvalhosa, Teresa Costa, António Marques Valido

المصدر: Portuguese Journal of Pediatrics, Vol 38, Iss 2 (2014)

مصطلحات موضوعية: Pediatrics, RJ1-570, Medicine (General), R5-920

Relation: https://pjp.spp.pt//article/view/4644; https://doaj.org/toc/2184-3333; https://doaj.org/article/d8d64cf06ab243e3b1e5dad783524bff

الاتاحة: https://doi.org/10.25754/pjp.2007.4644
https://doaj.org/article/d8d64cf06ab243e3b1e5dad783524bff

المؤلفون: Sandra Jacinto (10317962), Patrícia Guerreiro (659837), Rita Machado de Oliveira (10317965), Teresa Cunha-Oliveira (10317968), Maria João Santos (10317971), Manuela Grazina (10317974), Ana Cristina Rego (10317977), Tiago F. Outeiro (191379)

مصطلحات موضوعية: Cell Biology, Neuroscience, Cellular Nervous System, Central Nervous System, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Protein Trafficking, Mpv17 mutations, mitochondrial depletion syndrome, mitochondrial dysfunction, protein mislocation, neurode generation

Relation: https://figshare.com/articles/dataset/Table_1_MPV17_Mutations_Are_Associated_With_a_Quiescent_Energetic_Metabolic_Profile_DOCX/14230202

الاتاحة: https://doi.org/10.3389/fncel.2021.641264.s002

المؤلفون: Paola Goffrini, Fiorella Piemonte, Daniele Ghezzi, Teresa Rizza, Diego Martinelli, Rosalba Carrozzo, Adeline Vanderver, Sandra Jacinto, Anna Ardissone, Alessandra Torraco, Ishwar C. Verma, Carola G.M. van Berkel, Andrea Legati, Manju A. Kurian, Sunny Philip, Ileana Ferrero, Marco Tartaglia, Carlo Dionisi-Vici, Isabella Moroni, Marjo S. van der Knaap, Fatima Furtado, Truus E.M. Abbink, Mingyan Fang, Jianguo Zhang, Tiziana Langella, Patrizia Accorsi, Enrico Bertini, Elsa Bevivino, Cristina Dallabona, Daria Diodato, Marcello Niceta, Sunita Bijarnia-Mahay, Eleonora Lamantea, Daniela Verrigni

المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Dallabona, C, Abbink, T, Carrozzo, R, Torraco, A, Legati, A, Van Berkel, C, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, S, Kurian, M, Verma, I, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, Van Der Knaap, M, Bertini, E

المصدر: Brain, 139, 782-794. Oxford University Press
Dallabona, C, Abbink, T E M, Carrozzo, R, Torraco, A, Legati, A, van Berkel, C G M, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, S G, Kurian, M A, Verma, I C, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, M S & Bertini, E 2016, ' LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance ', Brain, vol. 139, pp. 782-794 . https://doi.org/10.1093/brain/awv392

مصطلحات موضوعية: LYRM7, 0301 basic medicine, Male, Molecular Chaperone, Pathology, medicine.medical_specialty, Adolescent, Complex III, Encephalopathy, Molecular Sequence Data, Respiratory chain, Saccharomyces cerevisiae, Biology, medicine.disease_cause, Leukoencephalopathy, Mitochondrial Proteins, 03 medical and health sciences, symbols.namesake, medicine, Mitochondrial Protein, Missense mutation, Humans, Amino Acid Sequence, Child, Sanger sequencing, Cavitation, Mutation, medicine.diagnostic_test, Leukoencephalopathy, Progressive Multifocal, Infant, Magnetic resonance imaging, medicine.disease, Mitochondrial respiratory chain complex III, Magnetic Resonance Imaging, Mitochondria, 030104 developmental biology, Child, Preschool, symbols, Female, Neurology (clinical), Human, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a546e9b00dd26f960d455e469f2ea927
https://doi.org/10.1093/brain/awv392

المؤلفون: Márcia Rodrigues, Silvia Sequeira, Saskia B. Wortmann, Sandra Jacinto, Ron A. Wevers

المصدر: Neuropediatrics, 48, 382-384
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Neuropediatrics, 48, 5, pp. 382-384
Neuropediatrics 48, 382-384 (2017)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, HDE MTB, Encephalopathy, Respiratory chain, HDE GEN, HDE NEU PED, Deafness, Compound heterozygosity, 03 medical and health sciences, Lethargy, 0302 clinical medicine, Internal medicine, Humans, Medicine, 3-methylglutaconic Aciduria, Leigh Syndrome, Megdel Syndrome, Mitochondrial Disorder, Serac1 Gene, Child, Brain Diseases, Muscle biopsy, medicine.diagnostic_test, business.industry, Brain, Syndrome, General Medicine, 3-Methylglutaconic Aciduria, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Hypotonia, Phenotype, 030104 developmental biology, Endocrinology, Mutation, Pediatrics, Perinatology and Child Health, Failure to thrive, Female, Neurology (clinical), medicine.symptom, business, Carboxylic Ester Hydrolases, Metabolism, Inborn Errors, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0beca7742b55fbef4ea2d0dda290c19a
https://doi.org/10.1055/s-0037-1602833

المؤلفون: Paola Goffrini, Tiziana Langella, Isabella Moroni, Daniele Ghezzi, Marcello Niceta, Teresa Rizza, Manju A. Kurian, Daria Diodato, Cristina Dallabona, Sunny Philip, Carlo Dionisi-Vici, Fiorella Piemonte, Rosalba Carrozzo, Jianguo Zhang, Andrea Legati, Diego Martinelli, Adeline Vanderver, Truus E.M. Abbink, Enrico Bertini, Marjo S. van der Knaap, Ishwar C. Verma, Sandra Jacinto, Fatima Furtado, Patrizia Accorsi, Eleonora Lamantea, Marco Tartaglia, Daniela Verrigni, Elsa Bevivino, Sunita Bijarnia-Mahay, Carola G.M. van Berkel, Ileana Ferrero, Mingyan Fang, Anna Ardissone, Alessandra Torraco

المصدر: Brain : a journal of neurology. 141(11)

مصطلحات موضوعية: media_common.quotation_subject, Neurology (clinical), Art, Humanities, Cavitating leukoencephalopathy, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e85cd3932fc6e2ba2e0ab92e41b86db
https://pubmed.ncbi.nlm.nih.gov/26912632

المؤلفون: Zong Wei, Joseph R. Ecker, Michael Downes, Asako Shigeno, Yasuyuki S. Kida, Annette R. Atkins, Ruth T. Yu, Takahiro Sogo, Teruhisa Kawamura, Ronald M. Evans, Eiji Yoshihara, Christopher Liddle, Sandra Jacinto, Hiroko Kushige

المصدر: Cell Stem Cell. 16:547-555

مصطلحات موضوعية: Pluripotent Stem Cells, Somatic cell, Antigens, CD34, Oxidative phosphorylation, Biology, Article, Oxidative Phosphorylation, Cell Line, Mice, Downregulation and upregulation, Genetics, Animals, Humans, Progenitor cell, Induced pluripotent stem cell, Ataxin-1, Mice, Knockout, Cell Biology, Cellular Reprogramming, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Cell biology, Adult Stem Cells, Receptors, Estrogen, Nuclear receptor, Cell culture, Molecular Medicine, Reprogramming, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23d7305381f343e38dd0179b5509ba1
https://doi.org/10.1016/j.stem.2015.03.001

المؤلفون: Denise E. Lackey, Ruth T. Yu, Christopher Liddle, Alexander Viktorovich Khvat, Sungsoon Fang, Sandra Jacinto, David A. Brenner, Alan R. Saltiel, Jae Myoung Suh, Kristina Schoonjans, Alessia Perino, Elizabeth Yu, Yelizaveta Lukasheva, Bernd Schnabl, Sally Coulter, Ronald M. Evans, Michael Downes, Annette R. Atkins, Olivia Osborn, Jerrold M. Olefsky, Shannon M. Reilly, Eiji Yoshihara

المصدر: Nature medicine
Nature medicine, vol 21, iss 2

مصطلحات موضوعية: medicine.medical_specialty, medicine.drug_class, Cytoplasmic and Nuclear, Adipose Tissue, White, Immunology, Adipose tissue, Receptors, Cytoplasmic and Nuclear, White, White adipose tissue, Biology, Weight Gain, Medical and Health Sciences, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, chemistry.chemical_compound, Mice, Adipose Tissue, Brown, Internal medicine, Receptors, medicine, Benzene Derivatives, Glucose homeostasis, Animals, Obesity, Intestinal Mucosa, Fexaramine, Bile acid, FGF15, Brown, General Medicine, G protein-coupled bile acid receptor, Fibroblast Growth Factors, Endocrinology, chemistry, Adipose Tissue, Glucose Clamp Technique, Farnesoid X receptor, Insulin Resistance

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8594f0afa07a52e99e16c0fb39d38e0a
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320010/

المؤلفون: Sihao Liu, Weiwei Fan, Michael Downes, Ronald M. Evans, Alan R. Saltiel, Maryam Ahmadian, C. Daniel De Magalhaes Filho, Johan Auwerx, Christopher Liddle, Sandra Jacinto, Yang Dai, Annette R. Atkins, Eiji Yoshihara, Nasun Hah, Andrew V. Gomez, Shannon M. Reilly, Ruth T. Yu, Pooja Jha

المصدر: Cell reports, vol 22, iss 11
Cell Reports, Vol 22, Iss 11, Pp 2849-2859 (2018)

مصطلحات موضوعية: 0301 basic medicine, 1.1 Normal biological development and functioning, thermoneutrality, Medical Physiology, Adipose tissue, Oxidative phosphorylation, Biology, estrogen related receptor gamma, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Mice, Downregulation and upregulation, Adipose Tissue, Brown, Underpinning research, Receptors, Brown adipose tissue, Genetics, medicine, 2.1 Biological and endogenous factors, Animals, Aetiology, Receptor, lcsh:QH301-705.5, Transcription factor, Brown, BAT, brown fat, Thermogenesis, Estrogen, Cell biology, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), Adipose Tissue, Receptors, Estrogen, Estrogen-related receptor gamma, Biochemistry and Cell Biology, Energy Metabolism, brown adipocyte

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a15c8f3f9e95523d922c9ac9df954f
https://pubmed.ncbi.nlm.nih.gov/29539415

المؤلفون: Sandra Jacinto, Sungsoon Fang

المصدر: Animal Cells and Systems. 18:359-364

مصطلحات موضوعية: Bile acid, medicine.drug_class, Metabolic homeostasis, Energy metabolism, Metabolism, Biology, G protein-coupled bile acid receptor, General Biochemistry, Genetics and Molecular Biology, Cell biology, Type ii diabetes, Biochemistry, medicine, Animal Science and Zoology, Farnesoid X receptor, Receptor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::844f46bbaab7ac8e293110574c024a18
https://doi.org/10.1080/19768354.2014.987318

المؤلفون: Michael Downes, Toutai Mituyama, Ronald M. Evans, Eiji Yoshihara, Yasuyuki S. Kida, Zong Wei, Hitomi Takada, Sandra Jacinto, Yutaka Saito

المصدر: Epigenetics

مصطلحات موضوعية: Cancer Research, induced pluripotent stem cells, Cellular differentiation, Adipose tissue, Biology, Cell Line, Epigenesis, Genetic, Transcriptome, fat differentiation, Adipocytes, Humans, Epigenetics, Induced pluripotent stem cell, Promoter Regions, Genetic, Molecular Biology, DNA methylation, epigenetics, Stem Cells, Brief Report, reprogramming, Cell Differentiation, Cellular Reprogramming, PPAR gamma, adipose derived stem cells, Cistrome, Cancer research, Adiponectin, Receptors, Adiponectin, fat cells, Reprogramming

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24d3981013739e24b815813b42717419
https://pubmed.ncbi.nlm.nih.gov/25093444

المؤلفون: J. Castro, José Pedro Vieira, Leonor Bastos Gomes, Ana I. Dias, Sandra Jacinto

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: medicine.medical_specialty, Oculomotor Nerve Diseases/radiography, Migraine Disorders/etiology, Oculomotor Nerve Diseases/complications, Cerebral arteries, Migraine Disorders/drug therapy, Flunarizine/therapeutic use, Prednisone/therapeutic use, HDE NEU PED, Posterior cerebral artery, Neurological disorder, Central nervous system disease, Internal medicine, medicine.artery, Ophthalmoplegic Migraine, Medicine, Child, Palsy, Cerebral Arterial Diseases/radiography, Dilatation, Pathologic/complications, business.industry, Vascular disease, Trigeminovascular system, Cerebral Arterial Diseases/complications, medicine.disease, Surgery, Neurology, Vasodilator Agents/therapeutic use, Cardiology, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c5dd51a5288ec711878c13de2536a2b
https://doi.org/10.1111/j.1526-4610.2008.01179.x

المؤلفون: Rosário Santos, Sandra Jacinto, Márcia E. Oliveira, Sonia Helena Furtado Costa, Joana Marques, Eulália Calado, Jorge Oliveira, Ana Rita Silvestre, T. Evangelista, Elsa Bronze-da-Rocha, Sofia T. Duarte

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: Male, Weakness, Pathology, medicine.medical_specialty, Fenótipo, Central nervous system, Cardiomyopathy, Mutation, Missense, HDE NEU PED, Mallory Bodies, Muscular Dystrophies, Epilepsia, Epilepsy, Exon, Young Adult, medicine, Missense mutation, Humans, Genetics (clinical), business.industry, Brain, Electroencephalography, Laminina, Middle Aged, medicine.disease, Phenotype, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Muscular Dystrophies, Limb-Girdle, Scoliosis, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Neurology (clinical), Laminin, medicine.symptom, business, Cardiomyopathies, Cognition Disorders, Distrofias Musculares

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc9e8202eee5e85355563e7494ba270
https://hdl.handle.net/10400.26/5811