المؤلفون: Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna, Morrison, Karen

المصدر: Zanovello , M , Ibáñez , K , Brown , A-L , Sivakumar , P , Bombaci , A , Santos , L , van Vugt , J J F A , Narzisi , G , Karra , R , Scholz , S W , Ding , J , Gibbs , J R , Chiò , A , Dalgard , C , Weisburd , B , Hanna , M G , Greensmith , L , Phatnani , H , Veldink , J H , Traynor , B J , Polke , J , Houlden , H , Fratta , ....

مصطلحات موضوعية: Humans, Male, Receptors, Androgen/genetics, Muscular Atrophy, Spinal/genetics, Polymerase Chain Reaction, Trinucleotide Repeat Expansion/genetics

وصف الملف: application/pdf

الاتاحة: https://pure.qub.ac.uk/en/publications/8cf3d7b5-8e66-420c-9a32-e9bcdcb55dc8
https://doi.org/10.1093/brain/awad050
https://pureadmin.qub.ac.uk/ws/files/594250335/awad050.pdf

المؤلفون: Faquih, Tariq O, Aziz, N. Ahmad, Dijk, Ko Willems, Mook-Kanamori, Dennis O, Gardiner, Sarah L, Li-Gao, Ruifang, de Mutsert, Renée, Milaneschi, Yuri, Trompet, Stella, Jukema, J Wouter, Rosendaal, Frits R, Hylckama Vlieg, Astrid

المصدر: Human molecular genetics 32(10), 1741-1752 (2023). doi:10.1093/hmg/ddad020

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Humans, Body Mass Index, Diabetes Mellitus, Type 2: genetics, Reference Values, Huntingtin Protein: genetics, Huntington Disease: pathology, Lipoproteins, LDL: genetics, Trinucleotide Repeat Expansion: genetics, Huntingtin Protein, LDL, HTT protein, human

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:36715614; info:eu-repo/semantics/altIdentifier/issn/0964-6906; info:eu-repo/semantics/altIdentifier/issn/1460-2083; https://pub.dzne.de/record/248107; https://pub.dzne.de/search?p=id:%22DZNE-2023-00211%22

الاتاحة: https://pub.dzne.de/record/248107
https://pub.dzne.de/search?p=id:%22DZNE-2023-00211%22

المؤلفون: Santos, D, Coelho, T, Alves-Ferreira, M, Sequeiros, J, Mendonça, D, Alonso, I, Sousa, A, Lemos, C

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Adult, Age of Onset, Amyloid Neuropathies, Familial / genetics, Asymptomatic Diseases, Ataxin-2 / genetics, European Continental Ancestry Group / genetics, Female, Genes, Modifier, Humans, Male, Middle Aged, Portugal, Prealbumin / genetics, Prognosis, Trinucleotide Repeat Expansion / genetics, Young Adult

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F91160%2F2012/PT; Annals of neurology, vol. 85(2), p. 251–258; https://hdl.handle.net/10216/126969

الاتاحة: https://hdl.handle.net/10216/126969
https://doi.org/10.1002/ana.25409

المؤلفون: Mosbach, Valentine, Poggi, Lucie, Richard, Guy-Franck

المساهمون: Génétique des génomes - Genetics of Genomes (UMR 3525), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Collège Doctoral, Sorbonne Université (SU), SANOFI Recherche, The authors wish to thank the continuous support of the Institut Pasteur and of the Centre National de la Recherche Scientifique (CNRS). L. P. is the recipient of a Cifre PhD fellowship from Sanofi. V. M. was the recipient of two post-doctoral fellowships from Fondation Guy Nicolas and from Fondation Hardy.

المصدر: ISSN: 0172-8083.

مصطلحات موضوعية: Gene conversion, CRISPR-Cas9, Break-induced replication, ZFN, TALEN, Single-strand annealing, MESH: DNA / genetics, MESH: DNA / metabolism, MESH: Humans, MESH: Models, Genetic, MESH: Trinucleotide Repeat Expansion / genetics, MESH: Trinucleotide Repeats / genetics, MESH: DNA Breaks, Double-Stranded, MESH: DNA Repair, MESH: Endonucleases / metabolism, MESH: Genetic Therapy / methods, MESH: Genetic Therapy / trends, MESH: Heredodegenerative Disorders, Nervous System / genetics, Nervous System / metabolism, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/29974202; pasteur-02864590; https://pasteur.hal.science/pasteur-02864590; https://pasteur.hal.science/pasteur-02864590/document; https://pasteur.hal.science/pasteur-02864590/file/CUGE-D-18-00094_V4.pdf; PUBMED: 29974202

الاتاحة: https://pasteur.hal.science/pasteur-02864590
https://pasteur.hal.science/pasteur-02864590/document
https://pasteur.hal.science/pasteur-02864590/file/CUGE-D-18-00094_V4.pdf
https://doi.org/10.1007/s00294-018-0865-1

المساهمون: College of Medicine, Dept. of Rehabilitation Medicine, Woo-Kyoung Yoo, Yoon Ghil Park, Young Chul Choi, Sun Mi Kim, Park, Yoon Ghil, Choi, Young Chul

مصطلحات موضوعية: Adult, Case-Control Studies, Cerebral Cortex/pathology, Demography, Diffusion Tensor Imaging, Female, Humans, Intelligence Tests, Male, Middle Aged, Myotonic Dystrophy/genetics, Myotonic Dystrophy/pathology, Trinucleotide Repeat Expansion/genetics, White Matter/pathology, Young Adult, CTG expansion size, Myotonia, cognitive function, myelinopathy, orbitofrontal network, resting network

Relation: YONSEI MEDICAL JOURNAL; J02813; OAK-2017-02431; https://ir.ymlib.yonsei.ac.kr/handle/22282913/154247; T201701850; YONSEI MEDICAL JOURNAL, Vol.58(4) : 807-815, 2017

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/154247
https://doi.org/10.3349/ymj.2017.58.4.807

المؤلفون: Peng, Linliu, Chen, Zhao, Wang, Shang, Zou, Guangdong, Wan, Linlin, Yuan, Hongyu, He, Lang, Xie, Yue, Tang, Zhichao, Wan, Na, Gong, Yiqing, Hou, Xuan, Long, Zhe, Shen, Lu, Xia, Kun, Li, Jinchen, Chen, Chao, Qiu, Rong, Klockgether, Thomas, Tang, Beisha, Jiang, Hong, Liu, Mingjie, Lei, Lijing, Wang, Chunrong, Peng, Huirong, Shi, Yuting, Peng, Yun, Deng, Qi

المصدر: Neurology 96(23), e2885 - e2895 (2021). doi:10.1212/WNL.0000000000012068

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Age Factors, Age of Onset, Ataxin-3: genetics, China: epidemiology, Cohort Studies, Humans, Machado-Joseph Disease: epidemiology, Middle Aged, Models, Statistical, Repressor Proteins: genetics, Survival Analysis, Trinucleotide Repeat Expansion: genetics, Young Adult, Repressor Proteins, ATXN3 protein, human, Ataxin-3

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/issn/0028-3878; info:eu-repo/semantics/altIdentifier/pmid/pmid:33893204; https://pub.dzne.de/record/155885; https://pub.dzne.de/search?p=id:%22DZNE-2021-01045%22

الاتاحة: https://pub.dzne.de/record/155885
https://pub.dzne.de/search?p=id:%22DZNE-2021-01045%22

المؤلفون: Marek, D., Papin, S., Ellefsen, K., Niederhauser, J., Isidor, N., Ransijn, A., Poupon, L., Spertini, F., Pantaleo, G., Bergmann, S., Beckmann, J.S., Jacquemont, S., Tanackovic, G.

المصدر: Journal of Neuroinflammation, vol. 9, pp. 238

مصطلحات موضوعية: Adult, Aged, Alleles, Analysis of Variance, Case-Control Studies, Cytokines, Enzyme-Linked Immunosorbent Assay, Fragile X Mental Retardation Protein/genetics, Fragile X Syndrome/genetics, Fragile X Syndrome/metabolism, Humans, Interleukin-10/metabolism, Leukocytes, Mononuclear/metabolism, Male, Middle Aged, Regression Analysis, Severity of Illness Index, Trinucleotide Repeat Expansion/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/23062006; info:eu-repo/semantics/altIdentifier/eissn/1742-2094; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_ADF180AFD0310; https://serval.unil.ch/notice/serval:BIB_ADF180AFD031; https://serval.unil.ch/resource/serval:BIB_ADF180AFD031.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_ADF180AFD031
https://doi.org/10.1186/1742-2094-9-238
https://serval.unil.ch/resource/serval:BIB_ADF180AFD031.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_ADF180AFD0310

المؤلفون: Kim, So Yeon, Kim, Ji Yeon, Kim, Gyoung Pyoung, Sung, Jung-Jun, Lim, Kyu Sang, Lee, Kwang-Woo, Chae, Jong Hee, Hong, Yoon-Ho, Seong, Moon-Woo, Park, Sung Sup

المساهمون: 김소연, 김지연, 김경평, 성정준, 임규상, 이광우, 채종희, 홍윤호, 성문우, 박성섭

مصطلحات موضوعية: Blotting, Southern, Data Interpretation, Statistical, Female, Genotype, Humans, Korea, Male, Myotonic Dystrophy/*diagnosis/*genetics, Pedigree, Phenotype, Polymerase Chain Reaction, Protein-Serine-Threonine Kinases/genetics, Retrospective Studies, Trinucleotide Repeat Expansion/genetics

Relation: Korean J Lab Med. 2008;28(6):483-492; 1598-6535 (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19127114; http://synapse.koreamed.org/Synapse/Data/PDFData/0039KJLM/kjlm-28-483.pdf; http://hdl.handle.net/10371/68413

الاتاحة: http://hdl.handle.net/10371/68413
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19127114
http://synapse.koreamed.org/Synapse/Data/PDFData/0039KJLM/kjlm-28-483.pdf
https://doi.org/10.3343/kjlm.2008.28.6.483

المؤلفون: Lim, Heon-Chang, Lee, Soon-Tae, Chu, Kon, Joo, Kyung Min, Kang, Lami, Im, Woo-Seok, Park, Joung-Eun, Kim, Seung U, Kim, Manho, Cha, Choong-Ik

المساهمون: 임현창, 이순태, 주건, 주경민, 강라미, 임우석, 박정은, 김승유, 김만호, 차충익

مصطلحات موضوعية: Apoptosis/drug effects, Cells, Cultured, Culture Media, Conditioned/*pharmacology, Dose-Response Relationship, Drug, Fetus, Flow Cytometry/methods, Humans, Nerve Tissue Proteins/genetics/metabolism, Neurons/chemistry/*drug effects, Neuroprotective Agents/*pharmacology, Nuclear Proteins/genetics, Stem Cells/*chemistry, Telencephalon/cytology, Transfection/methods, Trinucleotide Repeat Expansion/*genetics

Relation: Neurosci Lett. 435 (2008) 175-180; 0304-3940 (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18343580; http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T0G-4S1C8H0-3-5&_cdi=4862&_user=168665&_orig=search&_coverDate=04%2F25%2F2008&_sk=995649996&view=c&wchp=dGLbVtb-zSkzk&md5=446f82982b28642d534d950fca8e1ac0&ie=/sdarticle.pdf; http://hdl.handle.net/10371/68452

الاتاحة: http://hdl.handle.net/10371/68452
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18343580
http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T0G-4S1C8H0-3-5&_cdi=4862&_user=168665&_orig=search&_coverDate=04%2F25%2F2008&_sk=995649996&view=c&wchp=dGLbVtb-zSkzk&md5=446f82982b28642d534d950fca8e1ac0&ie=/sdarticle.pdf
https://doi.org/10.1016/j.neulet.2008.02.035

المؤلفون: Forsgren, L, Wiklund, L

المصدر: Incitament. 13(1):27

المؤلفون: Valentine Mosbach, Lucie Poggi, Guy-Franck Richard

المساهمون: Génétique des génomes - Genetics of Genomes (UMR 3525), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Collège Doctoral, Sorbonne Université (SU), SANOFI Recherche, The authors wish to thank the continuous support of the Institut Pasteur and of the Centre National de la Recherche Scientifique (CNRS). L. P. is the recipient of a Cifre PhD fellowship from Sanofi. V. M. was the recipient of two post-doctoral fellowships from Fondation Guy Nicolas and from Fondation Hardy., Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Collège doctoral [Sorbonne universités]

المصدر: Current Genetics
Current Genetics, 2019, 65, pp.17-28. ⟨10.1007/s00294-018-0865-1⟩
Current Genetics, Springer Verlag, 2019, 65, pp.17-28. ⟨10.1007/s00294-018-0865-1⟩

مصطلحات موضوعية: MESH: Genetic Therapy / methods, DNA Repair, MESH: Genetic Therapy / trends, DNA repair, [SDV]Life Sciences [q-bio], Biology, MESH: DNA / genetics, MESH: DNA Repair, 03 medical and health sciences, MESH: Heredodegenerative Disorders, Nervous System / genetics, Trinucleotide Repeats, TALEN, MESH: Endonucleases / metabolism, MESH: Trinucleotide Repeat Expansion / genetics, MESH: Heredodegenerative Disorders, Nervous System / metabolism, Genetics, MESH: DNA Breaks, Double-Stranded, CRISPR, Humans, MESH: DNA / metabolism, DNA Breaks, Double-Stranded, Gene conversion, MESH: Models, Genetic, ZFN, MESH: Trinucleotide Repeats / genetics, 030304 developmental biology, Single-strand annealing, 0303 health sciences, Transcription activator-like effector nuclease, MESH: Humans, Models, Genetic, 030302 biochemistry & molecular biology, Break-induced replication, General Medicine, DNA, Genetic Therapy, Endonucleases, Zinc finger nuclease, Double Strand Break Repair, Heredodegenerative Disorders, Nervous System, CRISPR-Cas9, Homologous recombination, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a044ea1af10f5dd5095ad5e06bfa6f5
https://hal-pasteur.archives-ouvertes.fr/pasteur-02864590

المؤلفون: Wang, Lisa, Sharma, Manu

المساهمون: Puschmann, Andreas, Creator, Nilsson, Christer, Creator

المصدر: Neurology MultiPark: Multidisciplinary research focused on Parkinson´s disease. 85(15):92-1283

مصطلحات موضوعية: Aged, Ataxins/genetics, Female, Gene Frequency/genetics, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Nerve Tissue Proteins/genetics, Nuclear Proteins/genetics, Parkinson Disease/epidemiology, Peptides/genetics, Phenotype, Risk, Trinucleotide Repeat Expansion/genetics, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

URL الوصول: https://lup.lub.lu.se/record/e553a201-4b7b-4983-a722-fb47d83277ff
http://dx.doi.org/10.1212/WNL.0000000000002016

المؤلفون: Yann Péréon, Stéphanie Tomé, Céline Dogan, Jean-Paul Bonnefont, Alexis Bertrand, Elodie Dandelot, David Geneviève, Guillaume Bassez, Geneviève Gourdon, Marie Simon

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Centre de Référence des maladies neuromusculaires rares Nantes-Angers, Service des Explorations Fonctionnelles, Centre hospitalier universitaire de Nantes (CHU Nantes), École de sages-femmes - Caen (ESF Caen), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Service de génétique moléculaire [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôtel-Dieu de Nantes, UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: Human Mutation
Human Mutation, Wiley, 2018, 39 (7), pp.970-982. ⟨10.1002/humu.23531⟩
Human Mutation, 2018, 39 (7), pp.970-982. ⟨10.1002/humu.23531⟩

مصطلحات موضوعية: 0301 basic medicine, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Contraction (grammar), MESH: Pedigree, [SDV]Life Sciences [q-bio], High variability, MESH: Myotonic Dystrophy / genetics, Pedigree chart, 030105 genetics & heredity, Biology, Triplet repeat instability, Myotonic dystrophy, Myotonin-Protein Kinase, 03 medical and health sciences, MESH: Trinucleotide Repeat Expansion / genetics, Genetics, medicine, Humans, Myotonic Dystrophy, Genetic Predisposition to Disease, Genetics (clinical), Alleles, CTG contractions and 5' single CAG interruption, ComputingMilieux_MISCELLANEOUS, MESH: Myotonic Dystrophy / physiopathology, Ctg repeat, MESH: Humans, Mosaicism, Myotonic dystrophy type 1, MESH: Alleles, medicine.disease, MESH: Male, Pedigree, Somatic mosaicism, MESH: Genetic predisposition to disease, Female, MESH: Mosaicism, Trinucleotide Repeat Expansion, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea0c7fe56dfbcf7497fa048e7ff6fca4
https://hal.umontpellier.fr/hal-01870349

المؤلفون: Tomé, Stéphanie, Dandelot, Elodie, Dogan, Celine, Bertrand, Alexis, Geneviève, David, Pereon, Yann, Simon, Marie, Bonnefont, Jean-Paul, Bassez, Guillaume, Gourdon, Geneviève

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier = Montpellier University Hospital, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Département de génétique médicale, maladies rares et médecine personnalisée CHU Montpellier, Service de génétique moléculaire CHU Necker, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôtel-Dieu de Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: CTG contractions and 5' single CAG interruption, Myotonic dystrophy type 1, Triplet repeat instability, MESH: Alleles, MESH: Female, MESH: Genetic predisposition to disease, MESH: Humans, MESH: Male, MESH: Mosaicism, MESH: Myotonic Dystrophy / genetics, MESH: Myotonic Dystrophy / physiopathology, MESH: Pedigree, MESH: Trinucleotide Repeat Expansion / genetics, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/29664219; PUBMED: 29664219; WOS: WOS:000434972700010

الاتاحة: https://hal.umontpellier.fr/hal-01870349
https://doi.org/10.1002/humu.23531

المؤلفون: Wilke, Carlo, Bender, Friedemann, Hayer, Stefanie N, Brockmann, Kathrin, Schöls, Ludger, Kuhle, Jens, Synofzik, Matthis

المصدر: Journal of neurology 265(7), 1618-1624 (2018). doi:10.1007/s00415-018-8893-9

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Aged, Ataxins: genetics, Case-Control Studies, Cerebellum: pathology, Female, Humans, Male, Middle Aged, Multiple System Atrophy: blood, Multiple System Atrophy: genetics, Multiple System Atrophy: pathology, Neurofilament Proteins: blood, Pilot Projects, ROC Curve, Trinucleotide Repeat Expansion: genetics, Ataxins, Neurofilament Proteins, neurofilament protein L

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0939-1517; info:eu-repo/semantics/altIdentifier/issn/1432-1459; info:eu-repo/semantics/altIdentifier/issn/0340-5354; info:eu-repo/semantics/altIdentifier/issn/0367-004x; info:eu-repo/semantics/altIdentifier/issn/1619-800X; info:eu-repo/semantics/altIdentifier/issn/0012-1037; info:eu-repo/semantics/altIdentifier/pmid/pmid:29737427; https://pub.dzne.de/record/140036; https://pub.dzne.de/search?p=id:%22DZNE-2020-06358%22

الاتاحة: https://pub.dzne.de/record/140036
https://pub.dzne.de/search?p=id:%22DZNE-2020-06358%22

المؤلفون: Matthes, Frank, Massari, Serena, Hadian, Kamyar, Tabarrini, Oriana, Rossetti, Giulia, Krauß, Sybille, Bochicchio, Anna, Schorpp, Kenji, Schilling, Judith, Weber, Stephanie, Offermann, Nina, Desantis, Jenny, Wanker, Erich, Carloni, Paolo

المصدر: ACS chemical neuroscience 9(6), 1399-1408 (2018). doi:10.1021/acschemneuro.8b00027

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Cell Line: drug effects, Humans, Huntingtin Protein: genetics, Huntingtin Protein: metabolism, Huntington Disease: drug therapy, Huntington Disease: metabolism, Nerve Tissue Proteins: genetics, Nerve Tissue Proteins: metabolism, Nuclear Proteins: drug effects, Nuclear Proteins: metabolism, Peptides: pharmacology, RNA, Messenger: metabolism, Trinucleotide Repeat Expansion: drug effects, Trinucleotide Repeat Expansion: genetics, Huntingtin Protein, Nerve Tissue Proteins, Nuclear Proteins, Peptides, Messenger, polyglutamine

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1948-7193; info:eu-repo/semantics/altIdentifier/pmid/pmid:29506378; https://pub.dzne.de/record/140027; https://pub.dzne.de/search?p=id:%22DZNE-2020-06349%22

الاتاحة: https://pub.dzne.de/record/140027
https://pub.dzne.de/search?p=id:%22DZNE-2020-06349%22

المؤلفون: Pickhardt, Marcus, Lawatscheck, Carmen, Borner, Hans G, Mandelkow, Eckhard

المصدر: Current Alzheimer research 14(7), 742 - 752 (2017). doi:10.2174/1567205014666170202103136

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Annexin A5: metabolism, Apoptosis: drug effects, Biological Availability, Cell Line, Tumor, Cell Survival: drug effects, Dose-Response Relationship, Drug, Humans, Mice, Microscopy, Fluorescence, Models, Biological, Peptide Library, Peptides: pharmacology, Protein Aggregates: drug effects, Rhodanine: chemistry, Rhodanine: pharmacokinetics, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Transfection, Trinucleotide Repeat Expansion: genetics, tau Proteins: genetics, tau Proteins: metabolism, Annexin A5, Peptides

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:28155596; info:eu-repo/semantics/altIdentifier/issn/1875-5828; info:eu-repo/semantics/altIdentifier/issn/1567-2050; https://pub.dzne.de/record/139336; https://pub.dzne.de/search?p=id:%22DZNE-2020-05658%22

الاتاحة: https://pub.dzne.de/record/139336
https://pub.dzne.de/search?p=id:%22DZNE-2020-05658%22

المؤلفون: Kroksmark, Anna-Karin, Ekström, A. B., Björck, E., Tulinius, Mar, 1953

المصدر: Dev Med Child Neurol. 47(7):478-85

مصطلحات موضوعية: Medical and Health Sciences, Medicin och hälsovetenskap, Adolescent, Case-Control Studies, Child, Preschool, DNA/isolation & purification, Female, Humans, Infant, Isometric Contraction/physiology, Male, Motor Activity/physiology, Muscle, Skeletal/*physiopathology, Myotonic Dystrophy/classification/*genetics/physiopathology, Severity of Illness Index, Trinucleotide Repeat Expansion/*genetics, Walking/physiology

URL الوصول: https://gup.ub.gu.se/publication/52775

المؤلفون: Ström, Anna-Lena, Forsgren, Lars, Holmberg, Monica

المصدر: Neurobiology of Disease. 20(3):646-655

مصطلحات موضوعية: spinocerebellar ataxia type 7, polyglutamine, CAG repeat, acetylation, CREB-binding protein/genetics, cell nucleus/genetics/metabolism, cerebellum/*metabolism/pathology/physiopathology, child, histones/metabolism, humans, male, mutation/genetics, nerve tissue proteins/*genetics, promoter regions (genetics)/genetics, purkinje cells/metabolism/pathology, receptor protein-tyrosine kinases, receptors, cell surface/genetics, regulatory elements, transcriptional/*genetics, repressor proteins/genetics, silencer elements, transcriptional/genetics, spinocerebellar ataxias/*genetics/metabolism/physiopathology, trans-activation (genetics)/genetics, trinucleotide repeat expansion/genetics, tumor cells, cultured, MEDICINE, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, Medical genetics, MEDICIN, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik, Medicinsk genetik

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-3802

المؤلفون: Jorgensen, I. N., Skakkebæk, A., Andersen, N. H., Pedersen, L. N., Hougaard, D. M., Bojesen, A., Trolle, C., Gravholt, C. H.

المصدر: Jorgensen, I N, Skakkebæk, A, Andersen, N H, Pedersen, L N, Hougaard, D M, Bojesen, A, Trolle, C & Gravholt, C H 2015, ' Short QTc Interval in Males with Klinefelter Syndrome : Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy ', Pacing and Clinical Electrophysiology, vol. 38, no. 4, pp. 472-482 . https://doi.org/10.1111/pace.12580

مصطلحات موضوعية: Male, Adult, body composition hypothalamus-pituitary-testicular axis hypogonadism cardiology ECG ANDROGEN RECEPTOR POLYMORPHISM X-CHROMOSOME INACTIVATION HEART-RATE MORTALITY PREVALENCE PHENOTYPE HORMONES MEN AGE, body composition, ECG, Incidence, Arrhythmias, Cardiac/diagnosis, Comorbidity, Testosterone/therapeutic use, hypothalamus-pituitary-testicular axis, Denmark/epidemiology, Trinucleotide Repeat Expansion/genetics, Age Distribution, Risk Factors, cardiology, Genetic Predisposition to Disease/epidemiology, Case-Control Studies, Hormone Replacement Therapy/statistics & numerical data, hypogonadism, Humans, Educational Status, cardiovascular diseases, Electrocardiography/statistics & numerical data

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3062::27c89c481aa378da5052c5ce1f300f24
https://portal.findresearcher.sdu.dk/da/publications/abe8fb3d-25ff-4b86-8377-30cd4867c611