المؤلفون: Sara Massucco, Cristina Schenone, Elena Faedo, Chiara Gemelli, Emilia Bellone, Lucio Marinelli, Davide Pareyson, Chiara Pisciotta, Tiziana Mongini, Angelo Schenone, Marina Grandis

المصدر: Frontiers in Neurology, Vol 14 (2024)

مصطلحات موضوعية: CMT, Charcot–Marie–Tooth disease, CMT1A, sleep disorders, sleep apnea, respiratory disorders, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1298473/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/ecc7757579ef4f69bbec7debe720e4d1

المؤلفون: Giovanna Capodivento, Mattia Camera, Nara Liessi, Anna Trada, Doriana Debellis, Angelo Schenone, Andrea Armirotti, Davide Visigalli, Lucilla Nobbio

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 20 ; Pages: 11244

مصطلحات موضوعية: CMT1A, myelin maturation, axonal growth, myelin lipids, nervous system development, sphingolipids

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms252011244

الاتاحة: https://doi.org/10.3390/ijms252011244

المؤلفون: Kaori Sakuishi, Masashi Hamada, Nanaka Yamaguchi-Takegami, Naoki Takegami, Tatsushi Toda

المصدر: Internal Medicine. 2024, 63(2):315

المؤلفون: Malavika A. Nair, Zhiyv Niu, Nicholas N. Madigan, Alexander Y. Shin, Jeffrey S. Brault, Nathan P. Staff, Christopher J. Klein

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: CMT, clinical trials, neuropathy, gene therapy, CMT1A, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1251885/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/fffd27d25be6484893fe60078954b4a9

المؤلفون: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M. Statland, Kevin Felice

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/cdd77817d00b47deb0f0fb315c44524e

المؤلفون: Zhiyong Chen, Monica Saini, Shermyn X. M. Neo, Peng-Soon Ng, Jasmine S. Koh, Kalpana Prasad, Kamal Verma, Sonia Davila, Weng Khong Lim, Ziqun Phua, Michelle M. Li, Corrine Kang, Karine S. S. Tay, Josiah Y. H. Chai

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Charcot-Marie-Tooth type 1A (CMT1A), CMT1A duplication, PMP22 protein, peripheral nerve ultrasound, Charcot-Marie-Tooth disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.826634/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/122ed859f02f48209083cb190856b4b9

المؤلفون: Kullek, Anne Edwina

Thesis Advisors: Stassart, Ruth M., Bosch-Queralt, Mar, Franz, Sandra, Schmidt, Hartmut, Universität Leipzig

مصطلحات موضوعية: Makrophagen, CMT1A, Charoct-Marie-Tooth, PNS, periphere Nerven, macrophages, cmt1a, Charoct-Marie-Tooth, PNS, peripheral nerves, info:eu-repo/classification/ddc/610, ddc:610

الاتاحة: https://ul.qucosa.de/id/qucosa%3A94416
https://ul.qucosa.de/api/qucosa%3A94416/attachment/ATT-0/

المؤلفون: Vukan Ivanovic, Bogdan Bjelica, Aleksa Palibrk, Marija Brankovic, Ivo Bozovic, Ivana Basta, Andrija Savic, Vidosava Rakocevic Stojanovic, Aleksandra Kacar

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Charcot-Marie-Tooth type 1A (CMT1A), quality of life, impairment, disability, fatigue, depression, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.852150/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/cb5b7c130fa742098863ee5dd794566d

المؤلفون: Zhukovsky, Nikolay, Silvano, Marianna, Filloux, Thierry, Gonzalez, Sergio, Krause, Karl-Heinz

المصدر: ISSN: 1422-0067 ; International journal of molecular sciences, vol. 23, no. 13 (2022) 7405.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.07, CMT1A, MHC class II (MHCII), Hereditary motor and sensory neuropathy (HMSN), Interleukin-6 (IL-6), Peripheral myelin protein (PMP22), Recombinant AAT, ADAM17 Protein / genetics, Animals, Charcot-Marie-Tooth Disease / drug therapy, Charcot-Marie-Tooth Disease / genetics, Charcot-Marie-Tooth Disease / metabolism, Disease Models, Animal, Disease Progression, Inflammation / drug therapy, Mice, Transgenic, Myelin Proteins / genetics, Alpha 1-Antitrypsin Deficiency

Relation: info:eu-repo/semantics/altIdentifier/pmid/35806409; https://archive-ouverte.unige.ch/unige:163546; unige:163546

الاتاحة: https://archive-ouverte.unige.ch/unige:163546

المؤلفون: Nikolay Zhukovsky, Marianna Silvano, Thierry Filloux, Sergio Gonzalez, Karl-Heinz Krause

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7405

مصطلحات موضوعية: CMT1A, hereditary motor and sensory neuropathy (HMSN), recombinant AAT, interleukin-6 (IL-6), MHC class II (MHCII), peripheral myelin protein (PMP22)

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Immunology; https://dx.doi.org/10.3390/ijms23137405

الاتاحة: https://doi.org/10.3390/ijms23137405

المؤلفون: Ekins, Sean, Litterman, Nadia K, Arnold, Renée JG, Burgess, Robert W, Freundlich, Joel S, Gray, Steven J, Higgins, Joseph J, Langley, Brett, Willis, Dianna E, Notterpek, Lucia, Pleasure, David, Sereda, Michael W, Moore, Allison

مصطلحات موضوعية: Rare Diseases, Peripheral Neuropathy, Neurodegenerative, Genetics, Neurosciences, Regenerative Medicine, Charcot-Marie-Tooth Disease, CMT1A, Charcot Marie Tooth, biomarkers, drug discovery, rare disease, Biochemistry and Cell Biology, Clinical Sciences, Oncology and Carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/65h2m4xg
https://escholarship.org/content/qt65h2m4xg/qt65h2m4xg.pdf

Thesis Advisors: UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBMSO), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: PLos One 12.6 (2017): e0178376
e0178376-1
6
12

مصطلحات موضوعية: Potential biomarkers in plasma, Neuropathy, Ultrahigh liquid chromatography, Linear Discriminant Analysis, CMT1A, Biología y Biomedicina / Biología, Medicina

URL الوصول: http://hdl.handle.net/10486/680131

المؤلفون: Silva, Alessio, Prior, Robert, Burg, Thibaut, Dehairs, Jonas, Idkowiak, Jakub, LIBBERECHT, Karen, Ackerman, Margot, SWINNEN , Jo, Van Den Bosch , Ludo

المساهمون: Silva, Alessio, Prior, Robert, Burg, Thibaut, Dehairs, Jonas, Idkowiak, Jakub, LIBBERECHT, Karen, Ackerman, Margot, SWINNEN , Jo, Van Den Bosch , Ludo

مصطلحات موضوعية: CMT1A, Lipid, Schwann cell, ferroptosis, antioxidants

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1942/44667; S48; S3; S47; 29; 001319566000092

الاتاحة: http://hdl.handle.net/1942/44667
https://doi.org/10.1111/jns.12648

المؤلفون: Xu, Isaac R L, Danzi, Matt C, Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M, Cortese, Andrea, Shy, Michael E, Scherer, Steven S, Herrmann, David N, Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G, Patel, Pooja, Feely, Shawna, Rebelo, Adriana P, Dohrn, Maike F, Züchner, Stephan

المساهمون: Xu, Isaac R L, Danzi, Matt C, Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M, Cortese, Andrea, Shy, Michael E, Scherer, Steven S, Herrmann, David N, Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G, Patel, Pooja, Feely, Shawna, Rebelo, Adriana P, Dohrn, Maike F, Züchner, Stephan

مصطلحات موضوعية: CMT1A, CMTES, Charcot–Marie–Tooth disease, PMP22, disease severity, genetic modifier, natural history, phenotype outlier, whole genome sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/38581130; info:eu-repo/semantics/altIdentifier/wos/WOS:001197287100001; journal:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; https://hdl.handle.net/11571/1497919

الاتاحة: https://hdl.handle.net/11571/1497919
https://doi.org/10.1111/jns.12621
https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12621?src=getftr

المؤلفون: Shahram Attarian (11572819), Peter Young (178261), Thomas H. Brannagan (11572822), David Adams (202540), Philip Van Damme (360993), Florian P. Thomas (10292365), Carlos Casanovas (11572825), Céline Tard (3131223), Maggie C. Walter (9850958), Yann Péréon (3638173), David Walk (11572828), Amro Stino (11572831), Marianne de Visser (119436), Camiel Verhamme (649647), Anthony Amato (7839407), Gregory Carter (3471752), Laurent Magy (666036), Jeffrey M. Statland (9438693), Kevin Felice (11572834)

مصطلحات موضوعية: Medicine, Pharmacology, Immunology, Cancer, Science Policy, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Randomized controlled trial

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_double-blind_placebo-controlled_randomized_trial_of_PXT3003_for_the_treatment_of_Charcot_Marie_Tooth_type_1A/16822588

الاتاحة: https://doi.org/10.6084/m9.figshare.16822588.v1

المؤلفون: Shahram Attarian (11572819), Peter Young (178261), Thomas H. Brannagan (11572822), David Adams (202540), Philip Van Damme (360993), Florian P. Thomas (10292365), Carlos Casanovas (11572825), Céline Tard (3131223), Maggie C. Walter (9850958), Yann Péréon (3638173), David Walk (11572828), Amro Stino (11572831), Marianne de Visser (119436), Camiel Verhamme (649647), Anthony Amato (7839407), Gregory Carter (3471752), Laurent Magy (666036), Jeffrey M. Statland (9438693), Kevin Felice (11572834)

مصطلحات موضوعية: Medicine, Pharmacology, Immunology, Cancer, Science Policy, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Randomized controlled trial

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_A_double-blind_placebo-controlled_randomized_trial_of_PXT3003_for_the_treatment_of_Charcot_Marie_Tooth_type_1A/16822594

الاتاحة: https://doi.org/10.6084/m9.figshare.16822594.v1

المؤلفون: Shahram Attarian (11572819), Peter Young (178261), Thomas H. Brannagan (11572822), David Adams (202540), Philip Van Damme (360993), Florian P. Thomas (10292365), Carlos Casanovas (11572825), Céline Tard (3131223), Maggie C. Walter (9850958), Yann Péréon (3638173), David Walk (11572828), Amro Stino (11572831), Marianne de Visser (119436), Camiel Verhamme (649647), Anthony Amato (7839407), Gregory Carter (3471752), Laurent Magy (666036), Jeffrey M. Statland (9438693), Kevin Felice (11572834)

مصطلحات موضوعية: Medicine, Pharmacology, Immunology, Cancer, Science Policy, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Randomized controlled trial

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_A_double-blind_placebo-controlled_randomized_trial_of_PXT3003_for_the_treatment_of_Charcot_Marie_Tooth_type_1A/16822591

الاتاحة: https://doi.org/10.6084/m9.figshare.16822591.v1

المؤلفون: Shahram Attarian (11572819), Peter Young (178261), Thomas H. Brannagan (11572822), David Adams (202540), Philip Van Damme (360993), Florian P. Thomas (10292365), Carlos Casanovas (11572825), Céline Tard (3131223), Maggie C. Walter (9850958), Yann Péréon (3638173), David Walk (11572828), Amro Stino (11572831), Marianne de Visser (119436), Camiel Verhamme (649647), Anthony Amato (7839407), Gregory Carter (3471752), Laurent Magy (666036), Jeffrey M. Statland (9438693), Kevin Felice (11572834)

مصطلحات موضوعية: Medicine, Pharmacology, Immunology, Cancer, Science Policy, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Randomized controlled trial

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_A_double-blind_placebo-controlled_randomized_trial_of_PXT3003_for_the_treatment_of_Charcot_Marie_Tooth_type_1A/16822597

الاتاحة: https://doi.org/10.6084/m9.figshare.16822597.v1

المؤلفون: Ah J. Lee, Da E. Nam, Yu J. Choi, Seung W. Noh, Soo H. Nam, Hye J. Lee, Seung J. Kim, Gyun J. Song, Byung‐Ok Choi, Ki W. Chung

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

مصطلحات موضوعية: Charcot–Marie–Tooth disease 1A (CMT1A), de novo mutation, gender specificity, hereditary neuropathy with liability to pressure palsies (HNPP), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/fd6fa10346bf4094aadcbbfb4b7b085a

المؤلفون: Davide Visigalli, Giovanna Capodivento, Abdul Basit, Roberto Fernández, Zeeshan Hamid, Barbora Pencová, Chiara Gemelli, Daniela Marubbi, Cecilia Pastorino, Adrienne M. Luoma, Christian Riekel, Daniel A. Kirschner, Angelo Schenone, José A. Fernández, Andrea Armirotti, Lucilla Nobbio

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: CMT1A, biomarker, drug, myelin, lipid metabolism, Schwann cell, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00903/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/dab3a83382504d50bb13125de0d5d8ed