Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.
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Hedde PN, Zhu S, Barylko B, Chiu CL, Nelson LT, Digman MA, Albanesi JP, James NG, Jameson DM. Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells. Biochemistry. 2024 Nov 05; 63(21):2750-2758.
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Ortiz-Santiago A, Ramos E. Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report. J Pediatr Rehabil Med. 2021; 14(3):533-537.
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Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Sch?le R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, N?meth AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug; 47(8):926-32.
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Strickland AV, Schabh?ttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Z?chner S, Schule R, Shy ME, Auer-Grumbach M. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. J Neurol. 2015 Sep; 262(9):2124-34.
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Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Z?chner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat. 2014 Nov; 35(11):1363-71.
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Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain. 2014 Nov; 137(Pt 11):2897-902.
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Noriega E, Ramos E. New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. J Clin Neuromuscul Dis. 2013 Dec; 15(2):63-8.