المساهمون: Timchenko, Lubov T.

مصطلحات موضوعية: Nervous system -- Diseases -- Genetic aspects., Nervous system -- Diseases -- Molecular aspects., Genetic disorders., Spinocerebellar Ataxias -- genetics., Friedreich Ataxia -- genetics., Myotonic Dystrophy -- genetics., Trinucleotide Repeat Expansion -- genetics.

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: 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

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

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

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d5ec327a2dc30a4a0fc4ec4743b260c5
https://hdl.handle.net/10216/126969

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: 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

المؤلفون: Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, RS, Sellbach, A, O'Sullivan, JD, Sutherland, GT, Siebert, GA, Dissanayaka, NN, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, PP, Cras, P, Lang, AE, Tzourio, C, Amouyel, P, Loriot, MA, Mutez, E, Duflot, A, Legendre, JP, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, EM, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, MR, Tarantino, P, Annesi, F, Gagliardi, M, Jeon, BS, Klodowska-Duda, G, Boczarska-Jedynak, M, Tan, EK, Belin, AC, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Lin, JJ, Maraganore, DM, Ahlskog, J, de Andrade, M, Lesnick, TG, Rocca, WA, Checkowa, H, Ross, OA, Wszolek, ZK, Uitti, RJ

المساهمون: Pathologic Biochemistry and Physiology, GEO-PD Consortium, Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, R, Sellbach, A, O'Sullivan, J, Sutherland, G, Siebert, G, Dissanayaka, N, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, P, Cras, P, Tzourio, C, Amouyel, P, Loriot, M, Mutez, E, Duflot, A, Legendre, J, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, E, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, M, Tarantino, P, Annesi, F, Gagliardi, M, Klodowska-Duda, G, Boczarska-Jedynak, M, Belin, A, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Ahlskog, J, de Andrade, M, Lesnick, T, Rocca, W, Checkowa, H

المصدر: Neurology
Neurology (2015). doi:10.1212/WNL.0000000000002016
info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
ResearcherID

مصطلحات موضوعية: Male, Age at onset, confidence interval, Genetic Epidemiology of Parkinson's Disease, Parkinson disease, spinocerebellar ataxia, Nerve Tissue Proteins, Disease, Biology, Parkinson Disease/epidemiology, Trinucleotide Repeat Expansion/genetics, Gene Frequency, Ataxins/genetics, Humans, Nerve Tissue Proteins/genetics, Genetic Predisposition to Disease, Risk factor, Allele frequency, Nuclear Protein, Aged, risk, Genetics, Medicine(all), Nuclear Proteins, Parkinson Disease, Ataxin, Odds ratio, Middle Aged, Phenotype, Nuclear Proteins/genetics, Genetic epidemiology, Ataxins, Gene Frequency/genetics, Nerve Tissue Protein, Peptide, Cohort, Female, Neurology (clinical), Human medicine, Trinucleotide repeat expansion, Peptides, Trinucleotide Repeat Expansion, Peptides/genetics, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fe39026c7bfeb5ea42ba83a45644
https://doi.org/10.1212/wnl.0000000000002016

المؤلفون: Fujigasaki, H, Verma, I C, Camuzat, A, Margolis, R L, Zander, C, Lebre, A S, Jamot, L, Saxena, R, Anand, I, Holmes, S E, Ross, C A, Dürr, A, Brice, A

المصدر: Ann Neurol. 49(1):117-21

مصطلحات موضوعية: Adult, Aged, Alleles, Cerebellar Ataxia/*genetics, Female, France, Humans, India, Male, Middle Aged, Pedigree, Trinucleotide Repeat Expansion/genetics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-17318
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=11198281&dopt=Citation