Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.
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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, H?lker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.
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Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH, Eichler FS. Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve. 2015 Apr; 51(4):489-95.
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Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Z?chner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011 Mar; 69(3):464-70.
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Triggs WJ, Brown RH, Menkes DL. Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. N Engl J Med. 2006 Jun 15; 354(24):2584-92.
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Bach D, Naon D, Pich S, Soriano FX, Vega N, Rieusset J, Laville M, Guillet C, Boirie Y, Wallberg-Henriksson H, Manco M, Calvani M, Castagneto M, Palac?n M, Mingrone G, Zierath JR, Vidal H, Zorzano A. Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6. Diabetes. 2005 Sep; 54(9):2685-93.
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Haubrich C, Krings T, Senderek J, Z?chner S, Schr?der JM, Noth J, T?pper R. Hypertrophic nerve roots in a case of Roussy-L?vy syndrome. Neuroradiology. 2002 Nov; 44(11):933-7.
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Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001 Jun 01; 105(5):587-97.
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Ionasescu V, Burns T, Ionasescu R, Searby C, Ginns E. Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. Cytogenet Cell Genet. 1988; 47(3):173-4.