المؤلفون: Bingjun Gao, Zhonghua Zhou, Junfei Chen, Shengling Zhang, Shaobin Jin, Weiwei Yang, Yinghan Lei, Kunyao Wang, Jinxu Li, Yan Zhuang

المصدر: Frontiers in Microbiology, Vol 15 (2024)

مصطلحات موضوعية: AOPEP, Mendelian randomization, gut microbiota, appendicular lean mass, sarcopenia, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmicb.2024.1325466/full; https://doaj.org/toc/1664-302X

URL الوصول: https://doaj.org/article/f32aa7bcd5eb437d9c9df995794f2da9

المؤلفون: Zech, Michael, Kumar, Kishore R., Reining, Sophie, Reunert, Janine, Tchan, Michel, Riley, Lisa G., Drew, Alexander P., Adam, Robert J., Berutti, Riccardo, Biskup, Saskia, Derive, Nicolas, Bakhtiari, Somayeh, Jin, Sheng Chih, Kruer, Michael C., Bardakjian, Tanya, Gonzalez‐Alegre, Pedro, Keller Sarmiento, Ignacio J., Mencacci, Niccolo E., Lubbe, Steven J., Kurian, Manju A., Clot, Fabienne, Méneret, Aurélie, Sainte Agathe, Jean‐Madeleine, Fung, Victor S.C., Vidailhet, Marie, Baumann, Matthias, Marquardt, Thorsten, Winkelmann, Juliane, Boesch, Sylvia

المساهمون: Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine

المصدر: Movement Disorders

مصطلحات موضوعية: AOPEP, genomic analysis, loss-of-function variants, monogenic dystonia, rare disease

Relation: Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J., … Boesch, S. (2021). Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement Disorders.; http://hdl.handle.net/10150/662083; Movement Disorders

الاتاحة: http://hdl.handle.net/10150/662083
https://doi.org/10.1002/mds.28804

المؤلفون: Bingjun Gao, Zhonghua Zhou, Junfei Chen, Shengling Zhang, Shaobin Jin, Weiwei Yang, Yinghan Lei, Kunyao Wang, Jinxu Li, Yan Zhuang

مصطلحات موضوعية: Microbiology, Microbial Genetics, Microbial Ecology, Mycology, AOPEP, Mendelian randomization, gut microbiota, appendicular lean mass, sarcopenia

Relation: https://figshare.com/articles/dataset/Table_1_Aminopeptidase_O_Protein_mediates_the_association_between_Lachnospiraceae_and_appendicular_lean_mass_XLSX/25157588

الاتاحة: https://doi.org/10.3389/fmicb.2024.1325466.s001
https://figshare.com/articles/dataset/Table_1_Aminopeptidase_O_Protein_mediates_the_association_between_Lachnospiraceae_and_appendicular_lean_mass_XLSX/25157588

المؤلفون: Garavaglia, B., Vallian, S., Romito, L.M., Straccia, G., Capecci, M., Invernizzi, F., Andrenelli, E., Kazemi, A., Boesch, S., Kopajtich, R., Olfati, N., Shariati, M., Shoeibi, A., Sadr-Nabavi, A., Prokisch, H., Winkelmann, J., Zech, M.

المصدر: Parkinsonism Relat. Disord. 97, 52-56 (2022)

مصطلحات موضوعية: Aopep Variants, Dystonia-parkinsonism, Exome Sequencing, Isolated Dystonia, Recessive Dystonia

Relation: info:eu-repo/semantics/altIdentifier/pmid/35306330; info:eu-repo/semantics/altIdentifier/wos/WOS:000788096900001; info:eu-repo/semantics/altIdentifier/isbn/1353-8020; info:eu-repo/sem

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64626
https://doi.org/10.1016/j.parkreldis.2022.03.007

المؤلفون: Aurélie Méneret, Manju A. Kurian, Michael C. Kruer, Alexander P. Drew, Niccolo E. Mencacci, Jean Madeleine de Sainte Agathe, Juliane Winkelmann, Lisa G. Riley, Sylvia Boesch, Saskia Biskup, Pedro Gonzalez-Alegre, Sheng Chih Jin, Janine Reunert, Sophie Reining, Kishore R. Kumar, Matthias Baumann, Riccardo Berutti, Fabienne Clot, Marie Vidailhet, Victor S.C. Fung, Thorsten Marquardt, Steven J. Lubbe, Robert Adam, Somayeh Bakhtiari, Tanya Bardakjian, Nicolas Derive, Ignacio Juan Keller Sarmiento, Michel Tchan, Michael Zech

المساهمون: Helmholtz Zentrum München = German Research Center for Environmental Health, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Concord Repatriation General Hospital, The University of Sydney, Garvan Institute of medical research, University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Westmead Hospital [Sydney], Royal Brisbane & Women's Hospital, University of Queensland [Brisbane], Centre for Clinical Research [Brisbane], CeGaT GmbH, Barrow Neurological Institute, University of Arizona, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Perelman School of Medicine, University of Pennsylvania, Northwestern University Feinberg School of Medicine, Institute of Child Health [London], University College of London [London] (UCL), Great Ormond Street Hospital for Children [London] (GOSH), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Gestionnaire, Hal Sorbonne Université, Helmholtz-Zentrum München (HZM), Technische Universität München [München] (TUM), Garvan Institute of Medical Research [Darlinghurst, Australia], University of Pennsylvania [Philadelphia], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Innsbruck Medical University [Austria] (IMU), Technische Universität München [München] (TUM)-Ludwig-Maximilians-Universität München (LMU)

المصدر: Movement Disorders
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)

مصطلحات موضوعية: Proband, Movement disorders, AOPEP, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, rare disease, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Compound heterozygosity, loss-of-function variants, Aminopeptidases, Aopep, Genomic Analysis, Loss-of-function Variants, Monogenic Dystonia, Rare Disease, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, medicine, Humans, Exome, Allele, 030304 developmental biology, Dystonia, Genetics, 0303 health sciences, Parkinsonism, Proteolytic enzymes, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.disease, Pedigree, Phenotype, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Dystonic Disorders, genomic analysis, Mutation, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, monogenic dystonia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8656fdccf99b551bfb684e673c1760a4
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf

المؤلفون: Garavaglia, Barbara, Vallian, Sadeq, Romito, Luigi M., Straccia, Giulia, Capecci, Marianna, Invernizzi, Federica, Andrenelli, Elisa, Kazemi, Arezu, Boesch, Sylvia, Kopajtich, Robert, Olfati, Nahid, Shariati, Mohammed, Shoeibi, Ali, Sadr-Nabavi, Ariane, Prokisch, Holger, Winkelmann, Juliane, Zech, Michael

مصطلحات موضوعية: Recessive dystonia, Isolated dystonia, Dystonia-parkinsonism, Exome sequencing, AOPEP variants

Relation: https://doi.org/10.1016/j.parkreldis.2022.03.007; https://zenodo.org/communities/besta; https://doi.org/10.5281/zenodo.7104639; https://doi.org/10.5281/zenodo.7104640; oai:zenodo.org:7104640

الاتاحة: https://doi.org/10.5281/zenodo.7104640