المؤلفون: Xiaoqin Yuan, Shanshan Zhang, Huifang Shang, Yufeng Tang

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: SORD, Distal hereditary motor neuropathy, Homozygous mutation, Genetic diagnosis, Mutation spectrum, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/6163b4a315104e9faa98039f5d6089fa

المؤلفون: A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali

المصدر: Нервно-мышечные болезни, Vol 13, Iss 2, Pp 42-55 (2023)

مصطلحات موضوعية: distal hereditary motor neuropathy 8, charcot–marie–tooth disease 2c, scapuloperoneal spinal muscular atrophy, congenital distal spinal muscular atrophy, trpv4, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/542; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/47a4aae3e5d74c7d8cbc451951a1d757

المؤلفون: Barwick, Katy Elizabeth Sara

المساهمون: Crosby, Andrew Harry, Harries, Lorna

مصطلحات موضوعية: 616.8, High affinity choline transporter, CHT, Distal hereditary motor neuropathy type 7, dHMN-VII, Distal hereditary motor neuropathy type 5, dHMN-V, Hypotonia, Mouse model, Charcot-Marie-Tooth disease, SLC5A7

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.693721

المؤلفون: Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valerie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stephane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent

المساهمون: Physiopathologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et imagerie des troubles neurologiques (PhIND), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, 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), Génétique des anomalies du développement (CTM UMR 1231) (GAD), Center for Translational and Molecular medicine Dijon - UMR1231 (CTM), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-École Pratique des Hautes Études (EPHE), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Centre de génétique humaine CHRU Besançon, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hospices Civils de Lyon (HCL)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: COQ7 distal hereditary motor neuropathy Coenzyme Q10, COQ7, distal hereditary motor neuropathy, Coenzyme Q10, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

الاتاحة: https://hal.science/hal-04831038
https://hal.science/hal-04831038v1/document
https://hal.science/hal-04831038v1/file/Jacquier%20et%20al.%202023%20Brain.pdf
https://doi.org/10.1093/brain/awac453

المؤلفون: Bianka A. Holguin, Zacariah L. Hildenbrand, Ricardo A. Bernal

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: small heat shock protein 27 (Hsp27), Charcot-Marie-Tooth disease (CMT), distal hereditary motor neuropathy (dHMN), α-crystallin domain (ACD), heat shock protein, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.868089/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/820df0ba13494ffeb4e2d87c4f29e0b8

المؤلفون: Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, Dongsheng Fan

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Charcot-Marie-Tooth disease, phenotype, genotype, genetics, distal hereditary motor neuropathy, SORD, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.733926/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/eb7d4815b9a549ffb742845943dd2403

المؤلفون: Theuriet, Julian, Marte, Sheila, Isapof, Arnaud, de Becdelièvre, Alix, Konyukh, Marina, Laureano-Figueroa, Stephanie, Latour, Philippe, Quadrio, Isabelle, Maisonobe, Thierry, Antonellis, Anthony, Stojkovic, Tanya

المساهمون: Radiopharmaceutical and Neurochemical Biomarkers (CRNL-BIORAN), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie et Biologie Moléculaire Grand Est HCL, Lyon (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL)

المصدر: ISSN: 1085-9489.

مصطلحات موضوعية: Charcot–Marie–Tooth disease, NARS1, asparaginyl‐tRNA synthetase, distal hereditary motor neuropathy, MESH: Adult, MESH: Female, MESH: Humans, MESH: Male, MESH: Middle Aged, MESH: Amino Acyl-tRNA Synthetases, MESH: Charcot-Marie-Tooth Disease, MESH: France, MESH: Hereditary Sensory and Motor Neuropathy, MESH: Pedigree, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/38769024; PUBMED: 38769024; PUBMEDCENTRAL: PMC11414471

الاتاحة: https://hal.science/hal-04801458
https://doi.org/10.1111/jns.12635

المؤلفون: Grace McMacken, Roger G. Whittaker, Ruth Wake, Hanns Lochmuller, Rita Horvath

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Journal of Neurology. 270:3112-3119

مصطلحات موضوعية: Neuromuscular junction (NMJ), Myasthenic Syndromes, Congenital, Neuromuscular Junction, Distal hereditary motor neuropathy (dHMN), Charcot-Marie-Tooth disease (CMT), Genetic Heterogeneity, Genetic defects, Neurology, Charcot-Marie-Tooth Disease, Humans, Albuterol, Neurology (clinical), Inherited peripheral neuropathy, Neuromuscular transmission (NMT)

وصف الملف: text/xml; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e856bc789b023a3b7705ca43ba39670d
https://doi.org/10.1007/s00415-023-11643-z

المؤلفون: Natera-de Benito, Daniel, Sola, Abel, Sousa, Paulo Rego, Boronat, Susana, Expósito-Escudero, Jessica, Carrera-García, Laura, Ortez, Carlos, Jou, Cristina, Muchart, Jordi, Rebollo, Monica, Armstrong, Judith, Colomer, Jaume, Garcia-Cazorla, Àngels, Hoenicka, Janet, Palau, Francesc, Nascimento, Andres

مصطلحات موضوعية: ATP7A, ATP7B, copper replacement therapy, distal hereditary motor neuropathy, occipital horn syndrome, Portugal, Região Autónoma da Madeira

Relation: www.elsevier.com/locate/pnu; Pediatric Neurology 119 (2021) 40e44; http://hdl.handle.net/10400.26/36508

الاتاحة: http://hdl.handle.net/10400.26/36508
https://doi.org/10.1016/j.pediatrneurol.2021.03.005

المؤلفون: Yongzhi Xie, Zhiqiang Lin, Pukar Singh Pakhrin, Xiaobo Li, Binghao Wang, Lei Liu, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: distal hereditary motor neuropathy, genetic diagnosis, genetic distribution, clinical features, GARS, SORD, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.603003/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/649dc87ea54149bfa147145b4d24fbc9

المؤلفون: E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov

المصدر: Нервно-мышечные болезни, Vol 7, Iss 3, Pp 47-55 (2017)

مصطلحات موضوعية: distal hereditary motor neuropathy, axonal neuropathy, neuromyotonia, hint1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/213; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/b27ffc0c525e43ec8645e495ae9e4dda

المؤلفون: M. G. L. Perego, N. Galli, M. Nizzardo, A. Govoni, M. Taiana, N. Bresolin, G. P. Comi, S. Corti

المساهمون: M.G.L. Perego, N. Galli, M. Nizzardo, A. Govoni, M. Taiana, N. Bresolin, G.P. Comi, S. Corti

مصطلحات موضوعية: Distal hereditary motor neuropathy type 6, Gene therapy, IGHMBP2, Motor neuron disease, Oligonucleotide, SMARD1, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/32123965; info:eu-repo/semantics/altIdentifier/wos/WOS:000517733600001; journal:CELLULAR AND MOLECULAR LIFE SCIENCES; http://hdl.handle.net/2434/721347; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081041100

الاتاحة: http://hdl.handle.net/2434/721347
https://doi.org/10.1007/s00018-020-03492-0

المؤلفون: Nicholas U. Schwartz

المصدر: Neurobiology of Disease, Vol 130, Iss , Pp 104505- (2019)

مصطلحات موضوعية: Charcot-Marie-Tooth disease, Charcot-Marie-Tooth 2F, CMT2F, CMT2F (Hsp27 mutations), Distal hereditary motor neuropathy II, DHMN II, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996119301652; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/87725e54198c4171b4771776398d6ff4

المؤلفون: Timmerman, Vincent, Haidar, Mansour, Asselbergh, Bob, Adriaenssens, Elias, De Winter, Vicky, Timmermans, Jean-Pierre, Auer-Grumbach, Michaela, Juneja, Manisha

مصطلحات موضوعية: Charcot-Marie-Tooth neuropathy, distal hereditary motor neuropathy, molecular chaperones, protein quality control, small heat shock proteins

جغرافية الموضوع: UMW:20739

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-35003/128; urn:nbn:at:at-ubmuw:3-35003; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-35003; local:99145831254403331; system:AC16138815

الاتاحة: https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-35003
https://doi.org/10.1080/15548627.2019.1569930
https://repositorium.meduniwien.ac.at/doi/10.1080/15548627.2019.1569930

المؤلفون: McMacken, Grace, Whittaker, Roger G, Wake, Ruth, Lochmuller, Hanns, Horvath, Rita

مصطلحات موضوعية: Charcot-Marie-Tooth disease (CMT), Distal hereditary motor neuropathy (dHMN), Genetic defects, Inherited peripheral neuropathy, Neuromuscular junction (NMJ), Neuromuscular transmission (NMT), Humans, Albuterol, Genetic Heterogeneity, Neuromuscular Junction, Myasthenic Syndromes, Congenital, Charcot-Marie-Tooth Disease

وصف الملف: text/xml; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/349898

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/349898

المؤلفون: 田邊, 肇

المصدر: Journal of the Peripheral Nervous System. 23 1

مصطلحات موضوعية: Charcot–Marie–Tooth disease 2F, distal hereditary motor neuropathy 2B, next-generation sequencing, male predominance, abnormal glucose metabolism

وصف الملف: PDF; application/pdf

URL الوصول: https://ndlsearch.ndl.go.jp/books/R100000039-I11426692

Degree: 博士(医学) -- Doctor of Philosophy in Medical Science -- 鹿児島大学

المؤلفون: Almendra, L., Laranjeira, F., Fernández-Marmiesse, A., Negrão, L.

مصطلحات موضوعية: SIGMAR1 gene, motor neuron disease, distal hereditary motor neuropathy

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060428/pdf/am-2018-01-2.pdf; Acta Myol. 2018 May 1;37(1):2-4; http://hdl.handle.net/10400.16/2263

الاتاحة: http://hdl.handle.net/10400.16/2263

المؤلفون: Vincenzo Lupo, Carmen Aguado, Erwin Knecht, Carmen Espinós

المصدر: Frontiers in Molecular Biosciences, Vol 3 (2016)

مصطلحات موضوعية: Heat shock protein, Chaperone, HSPB1, DnaJB2, Distal hereditary motor neuropathy, distal spinal muscular atrophy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fmolb.2016.00081/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/0ed25bc71c824b4385de92eacd8aad1a

المؤلفون: Rossor, AM, Morrow, JM, Polke, JM, Murphy, SM, Houlden, H, INC-RDCRC, Laura, M, Manji, H, Blake, J, Reilly, MM

المصدر: Neuromuscular Disorders , 27 (1) pp. 50-56. (2016)

مصطلحات موضوعية: Charcot–Marie–Tooth disease, Distal hereditary motor neuropathy, HSPB1, Neuromuscular disease, Peripheral neuropathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1529021/1/1-s2.0-S0960896616302528-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1529021/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1529021/1/1-s2.0-S0960896616302528-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1529021/

المؤلفون: Geuens, Thomas, De Winter, Vicky, Rajan, Nicholas, Achsel, Tilmann, Mateiu, Ligia, Almeida-Souza, Leonardo, Asselbergh, Bob, Bouhy, Delphine, Auer-Grumbach, Michaela, Bagni, Claudia, Timmerman, Vincent

مصطلحات موضوعية: HSPB1, RNA immunoprecipitation, PCBP1, Distal Hereditary Motor Neuropathy, Charcot-Marie-Tooth

Relation: http://www.actaneurocomms.org/content/5/1/5

الاتاحة: http://www.actaneurocomms.org/content/5/1/5