المؤلفون: Bosch Morató, Mònica

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Muñoz López, Francisco José

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Amyloid β-peptide (Aβ), GNE myopathy, Alzheimer’s disease, Sialic acid, Toxicity, Pèptid β-amiloide (Aβ), Miopatia de GNE, Malaltia d’Alzheimer, Àcid siàlic, Toxicitat

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/650351

المؤلفون: Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu

المصدر: Stem Cell Research, Vol 81, Iss , Pp 103562- (2024)

مصطلحات موضوعية: GNE myopathy, iPSC, deep intronic variant, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002605; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/72e21426c0fa43a5aca7565c4cfc1090

المؤلفون: Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni

المصدر: Molecules, Vol 29, Iss 21, p 5211 (2024)

مصطلحات موضوعية: GNE myopathy, HIBM, Nonaka myopathy, GNEM biomarkers, carnitines, lysophosphocholines, Organic chemistry, QD241-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1420-3049/29/21/5211; https://doaj.org/toc/1420-3049

URL الوصول: https://doaj.org/article/1f103e2be7a74a24ac706e6f4917011d

المؤلفون: Mullen, Jeffrey, Alrasheed, Khalid, Mozaffar, Tahseen

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Genetics, Rare Diseases, Muscular Dystrophy, Brain Disorders, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, sialic acid, ManNAc, HIBM, GNE myopathy, GNE gene, neuromuscular, Clinical Sciences, Neurosciences, Psychology, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3fr973z2
https://escholarship.org/content/qt3fr973z2/qt3fr973z2.pdf

المؤلفون: Cunha, Joana Sousa

المساهمون: Videira, Paula, Barbosa, Mariana, RUN

مصطلحات موضوعية: Glycosylation, GNE Myopathy, Sialic acid, Prodrugs, Hepatotoxicity, Domínio/Área Científica::Engenharia e Tecnologia::Outras Engenharias e Tecnologias

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10362/161275

المؤلفون: Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: GNE myopathy, Aceneuramic acid, Efficacy confirmation study, Ultra-orphan disease, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6628f652b5c34969bbb20872f77b28fa

المؤلفون: Pereira, Beatriz Luís

المساهمون: Videira, Paula, Barbosa, Mariana, RUN

مصطلحات موضوعية: Glycosylation, Sialic acid, Congenital Disorders of Glycosylation, GNE myopathy, Biomarkers, Prodrugs, Domínio/Área Científica::Engenharia e Tecnologia::Outras Engenharias e Tecnologias

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10362/154801

المؤلفون: Margeta, Marta

المصدر: Annual Review of Pathology Mechanisms of Disease. 15(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Aging, Underpinning research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Autophagy, Humans, Lysosomes, Muscle, Skeletal, Muscular Diseases, Protein Aggregation, Pathological, macroautophagy, granulophagy, chaperone-assisted selective autophagy, rimmed vacuole, autophagic vacuolar myopathy, myofibrillar myopathy, multiple system proteinopathy, GNE myopathy, inclusion body myositis, muscular dystrophy, centronuclear myopathy, Pathology, Clinical sciences

URL الوصول: https://escholarship.org/uc/item/76b4h176

المؤلفون: Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: GNE myopathy, Neurogenic pattern, Novel mutation, Muscle pathology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3e196ff2e5994388b52ace658b2b69d1

المؤلفون: Vanessa Hagenhaus, Jacob L. Gorenflos López, Rebecca Rosenstengel, Carolin Neu, Christian P. R. Hackenberger, Arif Celik, Klara Weinert, Mai-Binh Nguyen, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper

المصدر: Biomolecules; Volume 13; Issue 3; Pages: 422

مصطلحات موضوعية: GNE-myopathy, glycation, methylglyoxal, sialylation, post-translational modification, adult-onset disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biomacromolecules: Carbohydrates; https://dx.doi.org/10.3390/biom13030422

الاتاحة: https://doi.org/10.3390/biom13030422

المؤلفون: Emilia Peters, Philipp Selke, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper

المصدر: Frontiers in Bioscience-Landmark, Vol 28, Iss 11, p 300 (2023)

مصطلحات موضوعية: gne myopathy, mannac, gne, sialic acids, glycobiology, glycosylation, posttranslational modification, Biochemistry, QD415-436, Biology (General), QH301-705.5

Relation: https://www.imrpress.com/journal/FBL/28/11/10.31083/j.fbl2811300; https://doaj.org/toc/2768-6701; https://doaj.org/article/55797a6e1284409a8290119da26a873e

الاتاحة: https://doi.org/10.31083/j.fbl2811300
https://doaj.org/article/55797a6e1284409a8290119da26a873e

المؤلفون: Young-Eun Park, Eunjung Park, Jaeil Choi, Hiroe Go, Dan Bi Park, Min-Young Kim, Nam Ji Sung, Lila Kim, Jin-Hong Shin

المصدر: Biomedicine & Pharmacotherapy, Vol 168, Iss , Pp 115689- (2023)

مصطلحات موضوعية: GNE myopathy, Sialic acid, 6′-Sialyllactose, Pilot clinical trial, Pharmacokinetics, Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S0753332223014877; https://doaj.org/toc/0753-3322; https://doaj.org/article/2f4cf432b2154972bf05b3c1c8f3c99e

الاتاحة: https://doi.org/10.1016/j.biopha.2023.115689
https://doaj.org/article/2f4cf432b2154972bf05b3c1c8f3c99e

المؤلفون: Tongtong Zhang, Xiang Yin, Xuefan Yu, Ren Shang, Liuzhe Lu, Jing Miao

المصدر: Biomedicine & Pharmacotherapy, Vol 164, Iss , Pp 114958- (2023)

مصطلحات موضوعية: GNE myopathy, Autophagy, Metformin, AMPK, Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S0753332223007485; https://doaj.org/toc/0753-3322; https://doaj.org/article/1599534e8a184d1f88ffdce2552bf58a

الاتاحة: https://doi.org/10.1016/j.biopha.2023.114958
https://doaj.org/article/1599534e8a184d1f88ffdce2552bf58a

المؤلفون: Hagay Livne, Tom Avital, Shmuel Ruppo, Avi Harazi, Stella Mitrani-Rosenbaum, Alon Daya

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: GNE, GNE myopathy, gne KO zebrafish, cell cycle, DNA damage repair pathway, CRISPR/Cas9, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.976111/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/73a3cdaec61e4bfa8d1cb55a92fa614d

المؤلفون: Jeffrey Mullen, Khalid Alrasheed, Tahseen Mozaffar

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: sialic acid, ManNAc, HIBM, GNE myopathy (GNEM), GNE gene, neuromuscular, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1002310/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/2c7a4b8e6f71402cac02261f9e824096

المؤلفون: Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Lena Yakovlev, Stella Mitrani-Rosenbaum

المصدر: Frontiers in Genome Editing, Vol 4 (2022)

مصطلحات موضوعية: GNE, GNE myopathy, Gne KO muscle cells, Gne tagged mouse, cell cycle, dna damage repair pathway, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgeed.2022.930110/full; https://doaj.org/toc/2673-3439

URL الوصول: https://doaj.org/article/d01d9991c3af4e9fb487a592ffdc49a9

المؤلفون: Masashi Aoki, 青木 正志

المصدر: 神経治療学 / Neurological Therapeutics. 2023, 40(3):154

المؤلفون: Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: GNE myopathy, Pregnancy, Delivery, Threatened abortion, Disease progression, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01487-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/14df69e19b4b4a97ad894fcfc26a30a5

المؤلفون: Zhouwei Xu, Jingyan Xiang, Xinghua Luan, Zhi Geng, Li Cao

المصدر: Clinical Case Reports, Vol 10, Iss 4, Pp n/a-n/a (2022)

مصطلحات موضوعية: compound gene mutations, GNE myopathy, heterogeneity, sialic acid, thrombocytopenia, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/16f79749d836481a9d44bd875d09d747

المؤلفون: Aysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem Borovikov, Peter Sparber, Olga Shchagina, Alena Chukhrova, Oksana Ryzhkova, Olga Shatokhina, Anna Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev

المصدر: Genes; Volume 13; Issue 11; Pages: 1991

مصطلحات موضوعية: GNE myopathy, Nonaka myopathy, hereditary inclusion body myopathy, atypical cases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13111991

الاتاحة: https://doi.org/10.3390/genes13111991