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1Academic Journal
المؤلفون: Ling Su, Huiying Sheng, Xiuzhen Li, Yanna Cai, Huifen Mei, Jing Cheng, Duan Li, Zhikun Lu, Yunting Lin, Xiaodan Chen, Minzhi Peng, Yonglan Huang, Wen Zhang, Li Liu
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)
مصطلحات موضوعية: Methylmalonic aciduria, MMACHC gene, MMUT gene, SUCLA2 gene, Pulmonary hypertension, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2Academic Journal
المؤلفون: Xiaohuan Zhang, Guo Zhang, Li Cao, Wenjing Zhou, Chang Tan, Shi Ma, Jiyun Yang
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: MTDPS-5, SUCLA2, mitochondrial succinate-CoA ligase, NGS, mitochondrial DNA, rare disease, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C. Anthony Rupar, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: methylmalonic acid, mitochondrial DNA depletion syndrome, SUCLG1, SUCLA2, mitochondrial disorder, dystonia, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4
المؤلفون: Xiaohuan Zhang, Guo Zhang, Li Cao, Wenjing Zhou, Chang Tan, Shi Ma, Jiyun Yang
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, MTDPS-5, SUCLA2, mitochondrial succinate-CoA ligase, NGS, mitochondrial DNA, rare disease
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5
المؤلفون: Nogueira, Célia, Garcia, Paula, Diogo, Luísa, Valongo, Carla, Santorelli, Filippo, Vilarinho, Laura
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: Doenças Genéticas, SUCLA2
وصف الملف: application/pdf
الاتاحة: http://hdl.handle.net/10400.18/2222
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6
المؤلفون: Nogueira, Célia, Garcia, Paula, Diogo, Luisa, Valongo, Carla, Santorelli, Filippo, Vilarinho, Laura
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: SUCLA2, Doenças Genéticas
وصف الملف: application/pdf
الاتاحة: http://hdl.handle.net/10400.18/2167
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7
المؤلفون: Nogueira, Célia, Garcia, Paula, Diogo, Luisa, Valongo, Carla, Santorelli, Filippo, Vilarinho, Laura
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: SUCLA2, Doenças genéticas
وصف الملف: application/pdf
الاتاحة: http://hdl.handle.net/10400.18/1197
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8Academic Journal
المؤلفون: Akihiro Hashiguchi, Fumihito Nozaki, Hiroshi Takashima, Kei Murayama, Mioko Mori, Tatsuya Fujii, Tomohiro Kumada, 村山 圭, 森 未央子, 橋口 昭大, 熊田 知浩, 藤井 達哉, 野崎 章仁, 髙嶋 博
المصدر: 脳と発達 / NO TO HATTATSU. 2020, 52(5):318
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9
المؤلفون: Berge A. Minassian, Saija Ahonen, Reem A. Alkhater
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial DNA, SUCLA2, Mutation, Missense, Succinic Acid, Disease, Deafness, Bioinformatics, medicine.disease_cause, Brief Communication, 03 medical and health sciences, 0302 clinical medicine, Succinate-CoA Ligases, Medicine, Humans, Allele, Neurologic disease, Mutation, Movement Disorders, business.industry, General Neuroscience, Hyperintensity, Pedigree, Citric acid cycle, 030104 developmental biology, Female, Neurology (clinical), business, Brief Communications, 030217 neurology & neurosurgery
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10Conference
المؤلفون: Nogueira, Célia, Garcia, Paula, Diogo, Luísa, Valongo, Carla, Santorelli, Filippo, Vilarinho, Laura
مصطلحات موضوعية: Doenças Genéticas, SUCLA2
Relation: http://hdl.handle.net/10400.18/2222
الاتاحة: http://hdl.handle.net/10400.18/2222
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11Conference
المؤلفون: Nogueira, Célia, Garcia, Paula, Diogo, Luisa, Valongo, Carla, Santorelli, Filippo, Vilarinho, Laura
مصطلحات موضوعية: SUCLA2, Doenças Genéticas
Relation: http://hdl.handle.net/10400.18/2167
الاتاحة: http://hdl.handle.net/10400.18/2167
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12Conference
المؤلفون: Nogueira, Célia, Garcia, Paula, Diogo, Luisa, Valongo, Carla, Santorelli, Filippo, Vilarinho, Laura
مصطلحات موضوعية: SUCLA2, Doenças genéticas
Relation: http://hdl.handle.net/10400.18/1197
الاتاحة: http://hdl.handle.net/10400.18/1197
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13
المؤلفون: David B. Bartlett, Monica J. Hubal, Kim M. Huffman, Brian J. Andonian, Andrew Johannemann, Alec Koss, William E. Kraus, David M. Pober
المصدر: Arthritis Research & Therapy
Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, SUCLA2, Skeletal muscle, Acetate-CoA Ligase, Inflammation, Diseases of the musculoskeletal system, High-Intensity Interval Training, Interval training, Exercise training, Arthritis, Rheumatoid, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Aerobic exercise, Humans, Disease activity, Rheumatoid arthritis, Muscle, Skeletal, Aged, 030203 arthritis & rheumatology, business.industry, Membrane Proteins, Cardiorespiratory fitness, Rheumatology, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Metabolism, Cross-Sectional Studies, RC925-935, Cardiorespiratory Fitness, Gene expression, medicine.symptom, business, High-intensity interval training, Metabolic Networks and Pathways, Research Article
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14Academic Journal
المؤلفون: Lamperti C., Fang M., Invernizzi F., Liu X., Wang H., Zhang Q., Carrara F., Moroni I., Zeviani M., Zhang J., Ghezzi D.
المساهمون: C. Lamperti, M. Fang, F. Invernizzi, X. Liu, H. Wang, Q. Zhang, F. Carrara, I. Moroni, M. Zeviani, J. Zhang, D. Ghezzi
مصطلحات موضوعية: Mitochondrial disorder, Encephalomyopathy, Mitochondrial DNA depletion, SUCLA2, Exome-sequencing, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/23010432; info:eu-repo/semantics/altIdentifier/wos/WOS:000310720200023; volume:107; issue:3; firstpage:403; lastpage:408; numberofpages:6; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/2434/781367; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867897582
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15Academic Journal
المؤلفون: Poulton, J., Hirano, M., Spinazzola, A., Arenas Hernandez, M., Jardel, C., Lombès, A., Czermin, B., Horvath, R., Taanman, J.W., Rotig, A., Zeviani, M., Fratter, C.
المصدر: ISSN: 0925-4439 ; Biochimica et Biophysica Acta - Molecular Basis of Disease ; https://hal.archives-ouvertes.fr/hal-00537254 ; Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2009, 1792 (12), pp.1109. ⟨10.1016/j.bbadis.2009.08.016⟩.
Relation: hal-00537254; https://hal.archives-ouvertes.fr/hal-00537254; https://hal.archives-ouvertes.fr/hal-00537254/document; https://hal.archives-ouvertes.fr/hal-00537254/file/PEER_stage2_10.1016%252Fj.bbadis.2009.08.016.pdf
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16Report
المؤلفون: 高橋 智聡, Takahashi Chiaki
Relation: https://kaken.nii.ac.jp/search/?qm=50283619; https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19K22555/; https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-19K22555/19K22555seika/; https://kanazawa-u.repo.nii.ac.jp/?action=repository_uri&item_id=51491; http://hdl.handle.net/2297/00057794; 令和2(2020)年度 科学研究費補助金 挑戦的研究(萌芽) 研究成果報告書 = 2020 Fiscal Year Final Research Report, 2019-06-28 - 2021-03-31, 10p.(2021-04-12); https://kanazawa-u.repo.nii.ac.jp/?action=repository_action_common_download&item_id=51491&item_no=1&attribute_id=26&file_no=1
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17
المؤلفون: Faiza Fakhfakh, Emna Mkaouar-Rebai, Leila Keskes, Marwa Ammar, Amel Tej, Rahma Felhi, Jihene Bouguila, Senda Majdoub, Mouna Tabbebi, Samia Tilouche, Marwa Maalej, Boudour Khabou, Lamia Boughamoura
المصدر: Biochemical and Biophysical Research Communications. 495:1730-1737
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Mitochondrial DNA, SUCLA2, Gene Dosage, Mutation, Missense, Biophysics, Biology, medicine.disease_cause, DNA, Mitochondrial, Biochemistry, Consanguinity, 03 medical and health sciences, Exon, 0302 clinical medicine, Mitochondrial Encephalomyopathies, Enzyme Stability, Succinate-CoA Ligases, medicine, Humans, Hearing Loss, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Mutation, Psychomotor retardation, Homozygote, Infant, Cell Biology, medicine.disease, Molecular biology, 030104 developmental biology, Amino Acid Substitution, Methylmalonic aciduria, Child, Preschool, Lactic acidosis, Muscle Hypotonia, Acidosis, Lactic, Female, medicine.symptom, 030217 neurology & neurosurgery
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18
المؤلفون: Tongli Han, Zhimei Liu, Shufang Li, Hezhi Fang, Ying Shen, Yun Wu, Suzhen Sun, Danmin Shen, Changhong Ding, Jianxin Lv, Fang Fang, Lei Yang, Junlan Lv, Jian Wu
المصدر: Science China Life Sciences. 60:746-757
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Mitochondrial DNA, Mitochondrial Diseases, SUCLA2, Mitochondrial disease, NDUFV1, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, SURF1, Genetic Testing, Child, Genetic Association Studies, General Environmental Science, Genetics, Genetic heterogeneity, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, 030104 developmental biology, Child, Preschool, Lactic acidosis, Female, General Agricultural and Biological Sciences, 030217 neurology & neurosurgery
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19
المؤلفون: David J. Harris, Didem Demirbas, George Grahame, Suzanne D. DeBrosse, Gerard T. Berry, Charles L. Hoppel, Simone Edelheit, Jirair K. Bedoyan, Alexander Miron, Irina Anselm, Douglas S S Kerr, Xiaoping Huang, Lee-Jun C. Wong
المصدر: Molecular Genetics and Metabolism. 120:213-222
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, SUCLA2, Endocrinology, Diabetes and Metabolism, Oxidative phosphorylation, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Biochemistry, Article, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Endocrinology, Internal medicine, Succinate-CoA Ligases, Genetics, medicine, Humans, Child, Muscle, Skeletal, Myopathy, Molecular Biology, Sequence Deletion, Siblings, Succinyl coenzyme A synthetase, Pyruvate dehydrogenase complex, medicine.disease, Citric acid cycle, 030104 developmental biology, Lactic acidosis, medicine.symptom, 030217 neurology & neurosurgery
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20
المؤلفون: Susumu Kohno, Chiaki Takahashi, Paing Linn, Naoko Nagatani, Sharad Kumar, Tomoyoshi Soga, Yoshihiro Watanabe
المساهمون: Kohno, Susumu, Linn, Paing, Nagatani, Naoko, Watanabe, Yoshihiro, Kumar, Sharad, Soga, Tomoyoshi, Takahashi, Chiaki
المصدر: Oncogene. 39(34)
مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Programmed cell death, SUCLA2, Mice, Nude, Apoptosis, Mice, SCID, Biology, retinoblastoma protein, Retinoblastoma Protein, 03 medical and health sciences, chemistry.chemical_compound, Prostate cancer, 0302 clinical medicine, Castration Resistance, Prostate, Cell Line, Tumor, Succinate-CoA Ligases, Genetics, medicine, Benzoquinones, Animals, Humans, Molecular Biology, Thymoquinone, Mice, Knockout, HEK 293 cells, Prostatic Neoplasms, transcription factor E2F, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, HEK293 Cells, chemistry, Cell culture, 030220 oncology & carcinogenesis, PC-3 Cells, Cancer research, Tetradecanoylphorbol Acetate, cyclin-dependent kinases, Gene Deletion
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