المؤلفون: Doherty, Carolynne M.¹ (AUTHOR), Howard, Paige² (AUTHOR), O'Donnell, Luke F.¹ (AUTHOR), Zuccarino, Riccardo^2,3 (AUTHOR), Wastling, Stephen⁴ (AUTHOR), Milev, Evelin⁵ (AUTHOR), Banks, Tina⁶ (AUTHOR), Shah, Sachit⁴ (AUTHOR), Zafeiropoulos, Nick⁴ (AUTHOR), Stephens, Katherine J.² (AUTHOR), Sarkozy, Anna⁵ (AUTHOR), Grider, Tiffany² (AUTHOR), Feely, Shawna M. E.⁷ (AUTHOR), Manzur, Adnan⁵ (AUTHOR), Shy, Rosemary R.² (AUTHOR), Skorupinska, Mariola¹ (AUTHOR), Pipis, Menelaos¹ (AUTHOR), Nicolaisen, Emma² (AUTHOR), McDowell, Amy^1,4 (AUTHOR), Dilek, Nuran⁸ (AUTHOR)

المصدر: Annals of Neurology. Jul2024, Vol. 96 Issue 1, p170-174. 5p.

مصطلحات موضوعية: *MAGNETIC resonance imaging, *CHARCOT-Marie-Tooth disease, *JUVENILE diseases, *DISEASE progression, *TEENAGERS, *CLUBFOOT

المؤلفون: Pi, Byung Kwon¹ (AUTHOR) pi0979@naver.com, Chung, Yeon Hak² (AUTHOR) yeonhak59@gmail.com, Kim, Hyun Su³ (AUTHOR) hyunsu83.kim@samsung.com, Nam, Soo Hyun⁴ (AUTHOR) naman97@naver.com, Lee, Ah Jin¹ (AUTHOR) jhmom1010@naver.com, Nam, Da Eun⁵ (AUTHOR) daeun5612@naver.com, Park, Hyung Jun⁶ (AUTHOR) hyungjunpark316@gmail.com, Kim, Sang Beom⁷ (AUTHOR) sbkim@khu.ac.kr, Chung, Ki Wha¹ (AUTHOR) kwchung@kongju.ac.kr, Choi, Byung-Ok^4,8,9 (AUTHOR) kwchung@kongju.ac.kr

المصدر: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 12, p6378. 14p.

مصطلحات موضوعية: *CEREBELLAR ataxia, *CHARCOT-Marie-Tooth disease, *FAMILIAL spastic paraplegia, *SPASTICITY, *MAGNETIC resonance imaging, *GENETIC mutation

المؤلفون: Yoon, Byeol-A^1,2 (AUTHOR), Kim, Young Hee^1,3 (AUTHOR), Nam, Soo Hyun⁴ (AUTHOR), Lee, Hye-Jin^1,3 (AUTHOR), Oh, Seong-il⁵ (AUTHOR), Kim, Namhee⁶ (AUTHOR), Kim, Kyeong-Hee⁶ (AUTHOR), Jo, Young Rae³ (AUTHOR), Kim, Jong Kuk^1,2 (AUTHOR), Choi, Byung-Ok^4,7 (AUTHOR) bochoi@skku.edu, Park, Hwan Tae^1,3 (AUTHOR) phwantae@dau.ac.kr

المصدر: Scientific Reports. 5/14/2024, Vol. 14 Issue 1, p1-8. 8p.

مصطلحات موضوعية: *CHARCOT-Marie-Tooth disease, *SCHWANN cells, *BIOMARKERS, *DISEASE duration, *NEURAL conduction, *HOMEOSTASIS

المؤلفون: Tomaselli, Pedro José¹ (AUTHOR), Blake, Julian^2,3 (AUTHOR), Polke, James M.⁴ (AUTHOR), do Nascimento, Osvaldo José Moreira⁵ (AUTHOR), Reilly, Mary M.² (AUTHOR), Marques Júnior, Wilson¹ (AUTHOR), Laurá, Matilde² (AUTHOR) m.laura@ucl.ac.uk

المصدر: European Journal of Neurology. May2024, Vol. 31 Issue 5, p1-4. 4p.

مصطلحات موضوعية: *CHARCOT-Marie-Tooth disease, *MEDIAN nerve, *ULNAR nerve, *VELOCITY, *NEURAL conduction, *CARPAL tunnel syndrome, *HEART block

المؤلفون: Ceprian, Maria¹ (AUTHOR) maria.ceprian@achucarro.org, Juntas-Morales, Raul^2,3 (AUTHOR) raul.juntas@vallhebron.cat, Campbell, Graham¹ (AUTHOR), Walther-Louvier, Ulrike⁴ (AUTHOR) u-louvier@chu-montpellier.fr, Rivier, François⁴ (AUTHOR) f-rivier@chu-montpellier.fr, Camu, William² (AUTHOR) w-camu@chu-montpellier.fr, Esselin, Florence² (AUTHOR) f-esselin@chu-montpellier.fr, Echaniz-Laguna, Andoni⁵ (AUTHOR) andoni.echaniz-laguna@aphp.fr, Stojkovic, Tanya⁶ (AUTHOR) tanya.stojkovic@aphp.fr, Bouhour, Françoise⁷ (AUTHOR) francoise.bouhour@chu-lyon.fr, Latour, Philippe⁸ (AUTHOR) philippe.latour@chu-lyon.fr, Tricaud, Nicolas^1,9 (AUTHOR) nicolas.tricaud@inserm.fr

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4364. 12p.

مصطلحات موضوعية: *GLUCOKINASE, *CHARCOT-Marie-Tooth disease, *MITOCHONDRIA, *CALCIUM, *MYELIN sheath, *CALCIUM ions, *NEURAL stimulation

مصطلحات جغرافية: HONG Kong (China)

المؤلفون: Komachali, Sara Rafiee¹ sararafiee56@yahoo.com, khaje, Ali², Nakhaee-Moghadam, Maryam³, Tamandani, Bassam Kordi⁴, Kordi tamandani, Dor Mohammad⁵ dor_kordi@science.usb.ac.ir

المصدر: Journal of Epigenetics. Apr2024, Vol. 5 Issue 1, p1-4. 4p.

مصطلحات موضوعية: *CHARCOT-Marie-Tooth disease, *NEURAL conduction, *MUSCLE weakness, *MUSCULAR atrophy, *BIOINFORMATICS

المؤلفون: Jin San Lee¹, Jin Ho Jung², Go Hun Seo³, Eunkyoung You⁴, Seong-il Oh¹ seongil.oh@gmail.com

المصدر: Neurology Asia. 2024, Vol. 29 Issue 1, p259-263. 5p.

مصطلحات موضوعية: *CHARCOT-Marie-Tooth disease, *GENETIC variation, *NERVE conduction studies, *PERIPHERAL nervous system, *GENETIC testing, *GLYCOGEN storage disease type II

المؤلفون: Gemignani, Franco¹ (AUTHOR), Percesepe, Antonio^2,3 (AUTHOR), Gualandi, Francesca⁴ (AUTHOR), Allegri, Isabella⁵ (AUTHOR), Bellanova, Maria Federica⁶ (AUTHOR), Nuredini, Andi⁷ (AUTHOR), Saccani, Elena⁵ (AUTHOR), Ambrosini, Enrico³ (AUTHOR), Barili, Valeria² (AUTHOR) valeria.barili@unipr.it, Uliana, Vera³ (AUTHOR)

المصدر: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1654. 11p.

مصطلحات موضوعية: *MYELIN proteins, *CHARCOT-Marie-Tooth disease, *NEUROPATHY, *GENETIC variation, *GENETIC testing

المؤلفون: Rosenberg, Gregory M, Abskharon, Romany, Boyer, David R, Ge, Peng, Sawaya, Michael R, Eisenberg, David S

المصدر: PNAS Nexus. 2(12)

مصطلحات موضوعية: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biological Sciences, Genetics, Alzheimer's Disease, Dementia, Neurodegenerative, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, amyloid, cryo-electron microscopy, mutation, Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy with proximal dominant involvement, Charcot–Marie–Tooth disease

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/67d9m09gTest

المؤلفون: Ferraro, Francesco¹ (AUTHOR), Calafiore, Dario¹ (AUTHOR), Curci, Claudio¹ (AUTHOR), Fortunato, Francesco² (AUTHOR), Carantini, Irene^1,3 (AUTHOR), Genovese, Filippo³ (AUTHOR), Lucchini, Giuseppe⁴ (AUTHOR), Merlo, Andrea⁵ (AUTHOR), Ammendolia, Antonio⁶ (AUTHOR), de Sire, Alessandro⁶ (AUTHOR) alessandro.desire@unicz.it

المصدر: Neurological Sciences. Jan2024, Vol. 45 Issue 1, p289-297. 9p.

مصطلحات موضوعية: *CHARCOT-Marie-Tooth disease, *REHABILITATION, *AEROBIC exercises, *MUSCLE cramps, *TREATMENT programs, *MUSCLE strength