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682 results

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Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Phenotypes ranged from NDDs to the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2). Quantitative Human Phenotype Ontology (HPO) analysis demonstrated genotype-phenotype correlations with LoF variants causing mild NDD phenotype …
Phenotypes ranged from NDDs to the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2). Qu …
TGFbeta4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A.
Jeon H, Jang SY, Kwak G, Yi YW, You MH, Park NY, Jo JH, Yang JW, Jang HJ, Jeong SY, Moon SK, Doo HM, Nahm M, Kim D, Chang JW, Choi BO, Hong YB. Jeon H, et al. Brain. 2023 Sep 1;146(9):3608-3615. doi: 10.1093/brain/awad147. Brain. 2023. PMID: 37143322
The duplication of the peripheral myelin protein 22 (PMP22) gene causes a demyelinating type of neuropathy, commonly known as Charcot-Marie-Tooth disease type 1A (CMT1A). Development of effective drugs for CMT1A still remains as an unmet medical need. …
The duplication of the peripheral myelin protein 22 (PMP22) gene causes a demyelinating type of neuropathy, commonly known as Charcot …
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with characteristics that make them suitable as biomarkers in clinical practice and therapeutic trials. ...We show that NCAM1 may reflect disease …
Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with char …
Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.
Cui Q, Bi H, Lv Z, Wu Q, Hua J, Gu B, Huo C, Tang M, Chen Y, Chen C, Chen S, Zhang X, Wu Z, Lao Z, Sheng N, Shen C, Zhang Y, Wu ZY, Jin Z, Yang P, Liu H, Li J, Bai G. Cui Q, et al. Cell. 2023 Feb 16;186(4):803-820.e25. doi: 10.1016/j.cell.2022.12.046. Epub 2023 Feb 3. Cell. 2023. PMID: 36738734
Complex diseases often involve the interplay between genetic and environmental factors. Charcot-Marie-Tooth type 2 neuropathies (CMT2) are a group of genetically heterogeneous disorders, in which similar peripheral neuropathology is inexplicably caused by var …
Complex diseases often involve the interplay between genetic and environmental factors. Charcot-Marie-Tooth type 2 neur …
Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons.
Wong YC, Jayaraj ND, Belton TB, Shum GC, Ball HE, Ren D, Tadenev ALD, Krainc D, Burgess RW, Menichella DM. Wong YC, et al. Proc Natl Acad Sci U S A. 2023 Oct 31;120(44):e2313010120. doi: 10.1073/pnas.2313010120. Epub 2023 Oct 25. Proc Natl Acad Sci U S A. 2023. PMID: 37878717 Free PMC article.
Charcot-Marie-Tooth type 2B disease is an autosomal dominant axonal neuropathy affecting peripheral sensory neurons caused by mutations in the GTPase Rab7. ...We further generated a Charcot-Marie-Tooth type 2B mutant Rab7 knock-in …
Charcot-Marie-Tooth type 2B disease is an autosomal dominant axonal neuropathy affecting peripheral sensory neur …
Charcot-Marie-Tooth syndrome.
Chance PF, Pleasure D. Chance PF, et al. Arch Neurol. 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006. Arch Neurol. 1993. PMID: 8215977 Review.
Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. ...Missense mutations in PMP-22 are also responsible for two forms of demyelinative polyneuropathy in mice, trembler and trembler. Hereditary neu …
Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. ...Missense …
Charcot-Marie-Tooth type 1A disease from patient to laboratory.
Perveen S, Mannan S, Hussain A, Kanwal S. Perveen S, et al. J Pak Med Assoc. 2015 Feb;65(2):206-12. J Pak Med Assoc. 2015. PMID: 25842560 Review.
Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. ...The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. ...
Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. ...The disease …
Diagnosis of Charcot-Marie-Tooth disease.
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V. Banchs I, et al. J Biomed Biotechnol. 2009;2009:985415. doi: 10.1155/2009/985415. Epub 2009 Oct 8. J Biomed Biotechnol. 2009. PMID: 19826499 Free PMC article. Review.
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal developmen …
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneo …
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.
Xu WY, Zhu H, Shen Y, Wan YH, Tu XD, Wu WT, Tang L, Zhang HX, Lu SY, Jin XL, Fei J, Wang ZG. Xu WY, et al. Mol Cell Biol. 2018 Jun 14;38(13):e00085-18. doi: 10.1128/MCB.00085-18. Print 2018 Jul 1. Mol Cell Biol. 2018. PMID: 29661920 Free PMC article.
In addition, a nonsense mutation in DHTKD1 that we identified previously causes Charcot-Marie-Tooth disease (CMT) type 2Q, one of the most common inherited neurological disorders affecting the peripheral nerves in the musculature. However, the comprehe …
In addition, a nonsense mutation in DHTKD1 that we identified previously causes Charcot-Marie-Tooth disease (CMT …
A novel HSPB1(S139F) mouse model of Charcot-Marie-Tooth Disease.
Espinoza KS, Hermanson KN, Beard CA, Schwartz NU, Snider JM, Low BE, Wiles MV, Hannun YA, Obeid LM, Snider AJ. Espinoza KS, et al. Prostaglandins Other Lipid Mediat. 2023 Dec;169:106769. doi: 10.1016/j.prostaglandins.2023.106769. Epub 2023 Aug 23. Prostaglandins Other Lipid Mediat. 2023. PMID: 37625781
Charcot-Marie-Tooth Disease (CMT) is a commonly inherited peripheral polyneuropathy. ...Gait analysis revealed no differences between Hsp(WT) and Hsp(S139F) mice. However, both coordination and grip strength were decreased in 3-month-old Hsp(S13 …
Charcot-Marie-Tooth Disease (CMT) is a commonly inherited peripheral polyneuropathy. ...Gait analysis revealed n …
682 results