| 1 | HMSNP, TFG
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| R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
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| Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V.
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| Neurogenetics 19(3):179-187. doi: 10.1007/s10048-018-0552-x. Epub 2018 Jul 3.
2018
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| 2 | HMSNP, TFG
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| Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.
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| Khani M, Shamshiri H, Alavi A, Nafissi S, Elahi E.
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| J Neurol Sci 369:318-323. doi: 10.1016/j.jns.2016.08.035. Epub 2016 Aug 17.
2016
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| 3 | HMSNP, TFG
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| A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.
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| Tsai PC, Huang YH, Guo YC, Wu HT, Lin KP, Tsai YS, Liao YC, Liu YT, Liu TT, Kao LS, Yet SF, Fann MJ, Soong BW, Lee YC.
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| Neurology 83(10):903-12. doi: 10.1212/WNL.0000000000000758. Epub 2014 Aug 6.
2014
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| 4 | HMSNP, TFG
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| The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement.
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| Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S.
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| Am J Hum Genet 91(2):320-9.
2012
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| 5 | HMSNP
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| Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.
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| Maeda K, Kaji R, Yasuno K, Jambaldorj J, Nodera H, Takashima H, Nakagawa M, Makino S, Tamiya G.
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| J Hum Genet 52(11):907-14. Epub 2007 Oct 2.
2007
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| 6 | CMT2P, HMSNP
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| Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.
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| Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kanzato N, Matsuzaki T, Hirata K, Terwilliger JD, Osame M.
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| Neuromuscul Disord 9(6-7):368-71. 1999
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| 7 | CMT2P, HMSNP
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| A new type of hereditary motor and sensory neuropathy linked to chromosome 3.
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| Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M.
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| Ann Neurol 41(6):771-80. 1997
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