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6. Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. Auer-Grumbach M; Fischer C; Papić L; John E; Plecko B; Bittner RE; Bernert G; Pieber TR; Miltenberger G; Schwarz R; Windpassinger C; Grill F; Timmerman V; Speicher MR; Janecke AR Neuropediatrics; 2008 Feb; 39(1):33-8. PubMed ID: 18504680 [TBL] [Abstract][Full Text] [Related]
7. [Molecular genetics of inherited neuropathies]. Takashima H Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790 [TBL] [Abstract][Full Text] [Related]
8. Four novel cases of periaxin-related neuropathy and review of the literature. Marchesi C; Milani M; Morbin M; Cesani M; Lauria G; Scaioli V; Piccolo G; Fabrizi GM; Cavallaro T; Taroni F; Pareyson D Neurology; 2010 Nov; 75(20):1830-8. PubMed ID: 21079185 [TBL] [Abstract][Full Text] [Related]
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10. [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. Renouil M; Stojkovic T; Jacquemont ML; Lauret K; Boué P; Fourmaintraux A; Randrianaivo H; Tallot M; Mignard D; Roelens P; Tabailloux D; Bernard R; Cartault F; Chane-Thien E; Dubourg O; Ferrer X; Sole G; Fournier E; Latour P; Lacour A; Mignard C Rev Neurol (Paris); 2013; 169(8-9):603-12. PubMed ID: 24011642 [TBL] [Abstract][Full Text] [Related]
11. A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease. Citrigno L; Zoccolella S; Lastella P; Simone IL; Muglia M Eur J Neurol; 2020 Oct; 27(10):2109-2110. PubMed ID: 32460404 [TBL] [Abstract][Full Text] [Related]
12. New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. Noriega E; Ramos E J Clin Neuromuscul Dis; 2013 Dec; 15(2):63-8. PubMed ID: 24263033 [TBL] [Abstract][Full Text] [Related]
13. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Takashima H; Boerkoel CF; De Jonghe P; Ceuterick C; Martin JJ; Voit T; Schröder JM; Williams A; Brophy PJ; Timmerman V; Lupski JR Ann Neurol; 2002 Jun; 51(6):709-15. PubMed ID: 12112076 [TBL] [Abstract][Full Text] [Related]
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15. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. Boubaker C; Hsairi-Guidara I; Castro C; Ayadi I; Boyer A; Kerkeni E; Courageot J; Abid I; Bernard R; Bonello-Palot N; Kamoun F; Cheikh HB; Lévy N; Triki C; Delague V Ann Hum Genet; 2013 Jul; 77(4):336-43. PubMed ID: 23550889 [TBL] [Abstract][Full Text] [Related]
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19. Clinicopathological and genetic study of early-onset demyelinating neuropathy. Parman Y; Battaloglu E; Baris I; Bilir B; Poyraz M; Bissar-Tadmouri N; Williams A; Ammar N; Nelis E; Timmerman V; De Jonghe P; Najafov A; Deymeer F; Serdaroglu P; Brophy PJ; Said G Brain; 2004 Nov; 127(Pt 11):2540-50. PubMed ID: 15469949 [TBL] [Abstract][Full Text] [Related]
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