المؤلفون: Lee, Young Lim, Bosse, Mirte, Takeda, Haruko, Moreira, Gabriel Costa Monteiro, Karim, Latifa, Druet, Tom, Oget-Ebrad, Claire, Coppieters, Wouter, Veerkamp, Roel F, Groenen, Martien A M, Georges, Michel, Bouwman, Aniek C, Charlier, Carole

المصدر: BMC Genomics, 24 (1), 225 (2023-05-01)

مصطلحات موضوعية: Cattle, Copy number variants, Linkage disequilibrium, Structural variants, Whole genome sequencing, eQTL, POPDC3 protein, human, Muscle Proteins, Cell Adhesion Molecules, Female, Humans, Animals, Genotype, DNA Copy Number Variations, Haplotypes, Polymorphism, Single Nucleotide, Muscle Proteins/genetics, Cell Adhesion Molecules/genetics, Genome, Genomics/methods, Genetics, Biotechnology, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://link.springer.com/content/pdf/10.1186/s12864-023-09259-8.pdfTest; urn:issn:1471-2164

الوصول الحر: https://orbi.uliege.be/handle/2268/303481Test

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

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest

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

الإتاحة: https://doi.org/10.1038/s41598-018-28637-xTest
https://hdl.handle.net/10216/127417Test

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

المساهمون: College of Medicine, Dept. of Pathology, Hye Min Kim, Ja Seung Koo, Koo, Ja Seung, Kim, Hye Min

مصطلحات موضوعية: Adenoma/genetics, Adenoma/metabolism, Adenoma, Oxyphilic/genetics, Oxyphilic/metabolism, Carbonic Anhydrase IX/genetics, Carbonic Anhydrase IX/metabolism, Carcinoma/genetics, Carcinoma/metabolism, Female, Glucose Transporter Type 1/genetics, Glucose Transporter Type 1/metabolism, Glycolysis, Hexokinase/genetics, Hexokinase/metabolism, Humans, Male, Middle Aged, Monocarboxylic Acid Transporters/genetics, onocarboxylic Acid Transporters/metabolism, Muscle Proteins/genetics, Muscle Proteins/metabolism, Thyroid Neoplasms/genetics, Thyroid Neoplasms/metabolism

العلاقة: DISEASE MARKERS; J00743; OAK-2017-03317; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160356Test; T201702172; DISEASE MARKERS, Vol.2017 : 6230294, 2017

الإتاحة: https://doi.org/10.1155/2017/6230294Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160356Test

المساهمون: College of Medicine, Dept. of Pathology, Ji Hae Nahm, Hye Min Kim, Ja Seung Koo, Koo, Ja Seung, Kim, Hye Min, Nahm, Ji Hae

مصطلحات موضوعية: Adenocarcinoma, Follicular/genetics, Follicular/pathology, Adenoma/genetics, Adenoma/pathology, Carbonic Anhydrase IX/biosynthesis, Carbonic Anhydrase IX/genetics, Carcinoma/genetics, Carcinoma/pathology, Carcinoma, Medullary/genetics, Medullary/pathology, Papillary, Disease-Free Survival, Female, Gene Expression Regulation, Neoplastic, Glucose/metabolism, Glucose Transporter Type 1/biosynthesis, Glucose Transporter Type 1/genetics, Glycolysis/genetics, Hexokinase/biosynthesis, Hexokinase/genetics, Humans, Male, Monocarboxylic Acid Transporters/biosynthesis, Monocarboxylic Acid Transporters/genetics, Muscle Proteins/biosynthesis, Muscle Proteins/genetics, Thyroid Neoplasms/classification

العلاقة: TUMOR BIOLOGY; J02763; OAK-2017-01499; https://ir.ymlib.yonsei.ac.kr/handle/22282913/154522Test; T201700928; TUMOR BIOLOGY, Vol.39(3) : 1-10, 2017

الإتاحة: https://doi.org/10.1177/1010428317695922Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154522Test

المؤلفون: Kumar, Aditya, Szekely, Anna, Jabbari, Bahman

المصدر: Neurology

مصطلحات موضوعية: Anticonvulsants (therapeutic use), Carbamazepine (analogs & derivatives, therapeutic use), Chorea (drug therapy, genetics), Female, Humans, Middle Aged, Muscle Proteins (genetics), Mutation (genetics), Oxcarbazepine

العلاقة: https://scholar.barrowneuro.org/neurology/1668Test; https://doi.org/10.1097/WNF.0000000000000149Test

الإتاحة: https://doi.org/10.1097/WNF.0000000000000149Test
https://scholar.barrowneuro.org/neurology/1668Test

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 Neurol

مصطلحات 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

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

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