| 1 | CMT4F, PRX
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| Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.
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| Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO.
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| J Clin Neurol 11(1):92-6. doi: 10.3988/jcn.2015.11.1.92. Epub 2014 Nov 11.
2015
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| 2 | CMT4F, PRX
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| [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
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| 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.
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| Rev Neurol (Paris) 169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. French.
2013
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| 3 | CMT4F, PRX
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| Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
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| Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H.
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| Neurogenetics eurogenetics. 2012 Aug 1. [Epub ahead of print]
2012
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| 4 | CMT4B1, CMT4F, MTMR2, PRX
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| Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
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| Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M.
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| Neuromuscul Disord 21(8):543-50. doi: 10.1016/j.nmd.2011.04.013. Epub 2011 Jul 7.
2011
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| 5 | CMT4F, PRX
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| Four novel cases of periaxin-related neuropathy and review of the literature.
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| Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D.
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| Neurology 75(20):1830-8. Review.
2010
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| 6 | CMT4F, PRX
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| Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
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| 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.
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| Neuropediatrics 39(1):33-8.
2008
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| 7 | PRX, CMT4F
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| Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
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| Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I.
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| Neurology 66(5):745-7. 2006
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| 8 | MTMR2, CMT4B1, SBF2, CMT4B2, SH3TC2, CMT4C, PRX, CMT4F, LMNA, CMT2B1
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| Autosomal-recessive Charcot-Marie-Tooth diseases.
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| Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.
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| J Neuropathol Exp Neurol 64(5):363-70. Review. 2005
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| 9 | PRX, CMT4F
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| Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
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| Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR.
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| Ann Neurol 51(6):709-15. 2002
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| 10 | CMT4F
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| A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
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| Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M.
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| Hum Mol Genet 10(4):415-21. 2001
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| 11 | CMT4F, PRX
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| Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
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| Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.
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| Am J Hum Genet 68(2):325-33. 2001
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| 12 | CMT4F
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| Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
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| Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M.
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| Am J Hum Genet 67(1):236-43. 2000
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