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1دورية أكاديمية
المؤلفون: Villar-Quiles, Rocío Nur, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie C.A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce-Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma Beatriz, Beggs, Alan A.H., Servais, Lara, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband-Goulet, Isabelle, Ferreiro, Ana
المصدر: Annals of neurology, 87 (2
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adult, Amino Acid Transport System y+ -- metabolism -- physiology, Cell Cycle -- physiology, Cells, Cultured, Child, Preschool, Female, Fibroblasts -- physiology, Humans, Infant, Male, Middle Aged, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Muscular Diseases -- genetics -- physiopathology, Mutation, Pedigree, Phenotype, Transcription Factors -- genetics
وصف الملف: 1 full-text file(s): application/pdf
العلاقة: uri/info:doi/10.1002/ana.25660; uri/info:pmid/31794073; uri/info:scp/85077147655; uri/info:pmcid/PMC6980348; https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test
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2دورية أكاديمية
المساهمون: Sang-Eun Jung, Seung Min Lim, Sae Rom Hong, Eun Hee Lee, Kyoung-Jin Shin, Hwan Young Lee, Shin, Kyoung Jin
مصطلحات موضوعية: Acetyltransferases/genetics, Adolescent, Adult, Aged, Aging/genetics, Blood Chemical Analysis, CpG Islands/genetics, DNA Methylation, Forensic Genetics, Genetic Markers, Genotyping Techniques/instrumentation, Humans, LIM-Homeodomain Proteins/genetics, Membrane Proteins/genetics, Metalloproteins/genetics, Middle Aged, Mouth Mucosa/chemistry, Muscle Proteins/genetics, Saliva/chemistry, Sequence Analysis, DNA, Sp Transcription Factors/genetics, Transcription Factors/genetics, Young Adult, Age, Blood, Buccal swab, DNA methylation, Methylation SNaPshot, Saliva
العلاقة: FORENSIC SCIENCE INTERNATIONAL-GENETICS; J00905; OAK-2019-01266; https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test; https://www.sciencedirect.com/science/article/pii/S1872497318302382Test; T201901477; FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.38 : 1-8, 2019; 62882
الإتاحة: https://doi.org/10.1016/j.fsigen.2018.09.010Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test
https://www.sciencedirect.com/science/article/pii/S1872497318302382Test -
3دورية أكاديمية
المؤلفون: Hoffmann, C, Mao, X, Brown-Clay, J, Moreau, F, Al Absi, A, Wurzer, H, Sousa, B, Schmitt, F, Berchem, G, Janji, B, Thomas, C
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: Adult, Aged, Animals, Breast / pathology, Breast Neoplasms / genetics, Breast Neoplasms / mortality, Breast Neoplasms / pathology, Cell Hypoxia, Cell Line, Tumor, Cell Movement, Extracellular Matrix / pathology, Female, Gene Expression Regulation, Neoplastic, Gene Knockdown Techniques, Humans, Hypoxia-Inducible Factor 1, alpha Subunit / genetics, alpha Subunit / metabolism, Kaplan-Meier Estimate, LIM Domain Proteins / genetics, LIM Domain Proteins / metabolism, Mice, Middle Aged, Muscle Proteins / genetics, Muscle Proteins / metabolismo, Neoplasm Invasiveness / pathology, Nuclear Proteins / genetics, Nuclear Proteins / metabolismo
وصف الملف: application/pdf
العلاقة: Scientific Reports, vol.8(1):10191; https://www.nature.com/articles/s41598-018-28637-xTest; https://hdl.handle.net/10216/127417Test
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4دورية أكاديمية
المؤلفون: Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G, De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
المصدر: Johnson , K , Bertoli , M , Phillips , L , Töpf , A , Van den Bergh , P , Vissing , J , Witting , N , Nafissi , S , Jamal-Omidi , S , Łusakowska , A , Kostera-Pruszczyk , A , Potulska-Chromik , A , Deconinck , N , Wallgren-Pettersson , C , Strang-Karlsson , S , Colomer , J , Claeys , K G , De Ridder , W , Baets , J , von der Hagen , M , Fernández-Torrón , R , Zulaica Ijurco , M , Espinal Valencia , J ....
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dystroglycans/metabolism, Female, Genetic Predisposition to Disease, Genetic Variation, Glycosylation, Heterozygote, Homozygote, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Whole Exome Sequencing/methods, Young Adult
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
https://curis.ku.dk/portal/da/publications/detection-of-variants-in-dystroglycanopathyassociated-genes-through-the-application-of-targeted-wholeexome-sequencing-analysis-to-a-large-cohort-of-patients-with-unexplained-limbgirdleTest-muscle-weakness(0068e518-f9ce-4b5f-b7f2-313ed225bc7e).html
https://curis.ku.dk/ws/files/218088378/s13395_018_0170_1.pdfTest -
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المؤلفون: Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais
المساهمون: Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Biruni University, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Mühendislik ve Doğa Bilimleri Fakültesi
المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurolمصطلحات موضوعية: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: 1 full-text file(s): application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881c9cf3fea17bc40c4af016cc68a5c5Test
https://doi.org/10.1002/ana.25660Test -
6
المؤلفون: Cas J. Fuchs, Tyler A. Churchward-Venne, Joey S J Smeets, Kevin J M Paulussen, Lex B. Verdijk, Joan M. G. Senden, Luc J. C. van Loon, Wesley J H Hermans, Joop J. A. van Loon
المساهمون: Humane Biologie, RS: NUTRIM - R3 - Respiratory & Age-related Health, Physiotherapy, Human Physiology and Anatomy, Human Physiology and Sports Physiotherapy Research Group
المصدر: American Journal of Clinical Nutrition, 114(3), 934-944. Oxford University Press
The American journal of clinical nutrition 114 (2021) 3
The American journal of clinical nutrition, 114(3), 934-944مصطلحات موضوعية: Male, Mealworm, Protein metabolism, Gene Expression Regulation/drug effects, Muscle Proteins, Medicine (miscellaneous), Phenylalanine, chemistry.chemical_compound, SYNTHESIS RATES, FSR, AMINO-ACIDS, Laboratory of Entomology, Tenebrio, RESISTANCE EXERCISE, Muscle Proteins/genetics, Nutrition and Dietetics, intrinsically labeled protein, biology, DIETARY-PROTEIN, Milk Proteins, Postprandial Period, Milk Proteins/administration & dosage, medicine.anatomical_structure, Postprandial, protein metabolism, WHEY, Milk protein concentrate, SKELETAL-MUSCLE, NUTRITION, Dietary Proteins, INTRINSICALLY LABELED MILK, Adult, Muscle tissue, medicine.medical_specialty, Protein digestion, stable isotopes, Dietary Proteins/administration & dosage, Young Adult, Double-Blind Method, milk protein, Internal medicine, medicine, Animals, Humans, Exercise, Skeletal muscle, Laboratorium voor Entomologie, biology.organism_classification, Endocrinology, Gene Expression Regulation, chemistry, YOUNG, EPS, Tenebrio/chemistry, INGESTION
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452ac9136b62c4c7cc7da9dbb91f22beTest
https://cris.maastrichtuniversity.nl/en/publications/0637ee11-f2e4-4766-8536-510b422d6078Test -
7دورية أكاديمية
المساهمون: Ha Young Shin, Hoon Jang, Joo Hyung Han, Hyung Jun Park, Jung Hwan Lee, So Won Kim, Seung Min Kim, Young-Eun Park, Dae-Seong Kim, Duhee Bang, Min Goo Lee, Ji Hyun Lee, Young-Chul Choi, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Lee, Jung Hwan, Lee, Ji Hyun, Choi, Young Chul
مصطلحات موضوعية: Adolescent, Adult, Child, DNA Mutational Analysis, Dysferlin, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Young Adult, DYSF, Dysferlinopathy, Hybridization capture, Mutation, Next-generation sequencing
وصف الملف: 502~510
العلاقة: NEUROMUSCULAR DISORDERS; J02344; OAK-2015-00991; https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test; http://www.sciencedirect.com/science/article/pii/S0960896615001005Test; T201501491; NEUROMUSCULAR DISORDERS, Vol.25(6) : 502-510, 2015
الإتاحة: https://doi.org/10.1016/j.nmd.2015.03.006Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test
http://www.sciencedirect.com/science/article/pii/S0960896615001005Test -
8دورية أكاديمية
المؤلفون: Petersen, J.A., Kuntzer, T., Fischer, D., von der Hagen, M., Huebner, A., Kana, V., Lobrinus, J.A., Kress, W., Rushing, E.J., Sinnreich, M., Jung, H.H.
المصدر: Bmc Neurology, vol. 15, no. 1, pp. 182
مصطلحات موضوعية: Adolescent, Adult, Female, Founder Effect, Heterozygote, Homozygote, Humans, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Switzerland, Young Adult
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26444858; info:eu-repo/semantics/altIdentifier/eissn/1471-2377; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DFF23E46ADD9; https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest; urn:issn:1471-2377; https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test
الإتاحة: https://doi.org/10.1186/s12883-015-0449-3Test
https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest
https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test -
9دورية أكاديمية
المساهمون: Hyung Jun Park, Ji-Man Hong, Gyoung Im Suh, Ha Young Shin, Seung Min Kim, Il Nam Sunwoo, Bum Chun Suh, Young-Chul Choi, Kim, Seung Min, Park, Hyung Jun, Sunwoo, Il Nam, Shin, Ha Young, Choi, Young Chul, Hong, Ji Man
المصدر: T201201163.pdf
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Creatine Kinase/blood, Distal Myopathies/pathology, Dysferlin, Female, Humans, Immunohistochemistry, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Atrophy/pathology, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Limb-Girdle/pathology, Mutation, Phenotype, Republic of Korea, Tomography, X-Ray Computed, Young Adult, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, mmunohistochemistry
العلاقة: JOURNAL OF KOREAN MEDICAL SCIENCE; J01517; OAK-2012-00641; https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887Test; T201201163; JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.27(4) : 423-429, 2012
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10دورية أكاديمية
المؤلفون: Wargon, I., Richard, P., Kuntzer, T., Sternberg, D., Nafissi, S., Gaudon, K., Lebail, A., Bauche, S., Hantaï, D., Fournier, E., Eymard, B., Stojkovic, T.
المصدر: Neuromuscular Disorders, vol. 22, no. 4, pp. 318-324
مصطلحات موضوعية: Acetylcholinesterase/deficiency, Acetylcholinesterase/genetics, Adolescent, Adult, Child, Preschool, Collagen/genetics, Collagen/metabolism, Disease Progression, Female, Follow-Up Studies, Genetic Association Studies, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscle Proteins/metabolism, Mutation/genetics, Myasthenic Syndromes, Congenital/diagnosis, Congenital/genetics, Phenotype, Recurrence, Treatment Outcome, Young Adult
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22088788; info:eu-repo/semantics/altIdentifier/eissn/1873-2364; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F02C6FAA938E2; https://serval.unil.ch/notice/serval:BIB_F02C6FAA938ETest; urn:issn:0960-8966; https://serval.unil.ch/resource/serval:BIB_F02C6FAA938E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F02C6FAA938E2Test
الإتاحة: https://doi.org/10.1016/j.nmd.2011.09.002Test
https://serval.unil.ch/notice/serval:BIB_F02C6FAA938ETest
https://serval.unil.ch/resource/serval:BIB_F02C6FAA938E.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F02C6FAA938E2Test