المؤلفون: Shuizhen Zhou, Lei Zhao, Yiyun Shi, Chaoping Hu, Xihua Li

المصدر: Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics

مصطلحات موضوعية: medicine.medical_specialty, phenotype, genotype, medicine.disease_cause, Pediatrics, Gastroenterology, RJ1-570, Exon, Internal medicine, Genotype, medicine, Missense mutation, Original Research, CLCN1, Mutation, biology, Myotonia congenita, business.industry, CLCN1 gene, mutations, medicine.disease, Myotonia, Muscle relaxation, Pediatrics, Perinatology and Child Health, biology.protein, business, myotonia congenita

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50233ecf9a7710d315dc5702eab02f43Test
https://doi.org/10.3389/fped.2021.759505Test

المؤلفون: Yi Wang, Qiong Xu, Chaoping Hu, Jin Shen

المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology

مصطلحات موضوعية: Cerebral atrophy, medicine.medical_specialty, business.industry, Genetic heterogeneity, Mitochondrial disease, complex I defect, Compound heterozygosity, medicine.disease, Gastroenterology, lcsh:RC346-429, Frameshift mutation, Mitochondrial respiratory chain, Neurology, Internal medicine, FOXRED1, neuroimage, Medicine, Missense mutation, Neurology (clinical), business, Encephalomalacia, cystic encephalomalacia, mitochondrial encephalopathy, lcsh:Neurology. Diseases of the nervous system, Original Research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d28841291b7c4fa827a38b7c90cd337Test
https://www.frontiersin.org/articles/10.3389/fneur.2021.633397/fullTest

المؤلفون: Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Joseph J, Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Nicolas, Deconinck, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina, Martina, Galiot, Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Stefania Bianchi Marzoli, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini, Francesca, Abbati, Federica, Fassini, Michaela, Foa, Amalia, Lopopolo, Elisa, Minuti, Mercuri, Eugenio Maria, Pane, Marika, Concetta, Palermo, Pera, Maria Carmela, Amorelli, Giulia Maria, Costanza, Barresi, Gugliemo, D'Amico, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Yasuhiro, Takeshima, Fumi, Gomi, Naoki, Kimura, Takanobu, Morimatsu, Mana, Okamoto, Toru, Furukawa, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, Andrea, Klein, Cornelia, Enzmann, Elea, Galiart, Konstantin, Gugleta, Patricia, Siems, Verena, Kreiliger, Christine Wondrusch Haschke, Haluk, Topaloglu, Ibrahim, Oncel, Didem, Ardicli, Nesibe Eroglu Ertugrul, Hizal, Gharibzadeh, Ceren, Gunbey, Bahadir, Konuskan, Selen Serel Arslan, Elams Ebru Yalcin, Fatma Gokcem Yildiz Sarikaya, Bora, Eldem, Sibel, Kadayıfçılar, Ipek, Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Robert, J Graham, Partha, Ghosh, David, Casavant, Brian, Snyder, Alexis, Levine, Rachael, Titus, Amanda, Engelbrekt, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, John, W Day, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young

المساهمون: Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Ambrosio, Lucia

مصطلحات موضوعية: Male, medicine.medical_specialty, Neuromuscular disease, Risdiplam, Type 1 Spinal Muscular Atrophy, treated infants, historical controls, MEDLINE, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Severity of illness, medicine, Humans, Progression-free survival, 610 Medicine & health, business.industry, Historically Controlled Study, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Progression-Free Survival, Settore MED/26 - NEUROLOGIA, Pyrimidines, Neuromuscular Agents, Motor Skills, Female, business, Azo Compounds

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed09c52927a13825fc169729b55a3c3Test
http://hdl.handle.net/10807/213690Test

المؤلفون: Yi Wang, Yiyun Shi, Shuizhen Zhou, Chaoping Hu, Xihua Li, Lei Zhao

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mitochondrial DNA, Cardiomyopathy, Gene mutation, Gastroenterology, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Internal medicine, cytochrome-c oxidase, medicine, gene mutation, Risk factor, lcsh:Neurology. Diseases of the nervous system, treatment, Genetic heterogeneity, business.industry, mitochondrial myopathy, medicine.disease, 030104 developmental biology, Neurology, Respiratory failure, pathology, Neurology (clinical), Chronic progressive external ophthalmoplegia, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb743bfdff4b13fc6cc0e3912ce7d40Test
https://doi.org/10.3389/fneur.2020.01000Test