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Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Jerath NU, Shy ME. Jerath NU, et al. Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29. Muscle Nerve. 2017. PMID: 28164329 Free PMC article.
INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/la …
INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropat …
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
Ho AK, Wagstaff JL, Manna PT, Wartosch L, Qamar S, Garman EF, Freund SM, Roberts RC. Ho AK, et al. BMC Biol. 2016 Dec 7;14(1):109. doi: 10.1186/s12915-016-0332-8. BMC Biol. 2016. PMID: 27927196 Free PMC article.
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-alpha factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein cont …
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-alpha factor (LITAF) cause the autosomal dominant inherited perip …
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I. Latour P, et al. J Peripher Nerv Syst. 2006 Jun;11(2):148-55. doi: 10.1111/j.1085-9489.2006.00080.x. J Peripher Nerv Syst. 2006. PMID: 16787513
Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). ...
Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane …