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References

These sources were used to develop the Genetics Home Reference gene summary on the PRX gene.

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. Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. Neuropediatrics. 2008 Feb;39(1):33-8. doi: 10.1055/s-2008-1077085. PubMed citation
Baránková L, Sisková D, Hühne K, Vyhnálková E, Sakmaryová I, Bojar M, Rautenstrauss B, Seeman P. A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT. Eur J Neurol. 2008 Jun;15(6):548-51. doi: 10.1111/j.1468-1331.2008.02104.x. Epub 2008 Apr 8. PubMed citation
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557. PubMed citation
Entrez Gene
Gene Review: Charcot-Marie-Tooth Neuropathy Type 4
Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet. 2001 Feb 15;10(4):415-21. PubMed citation
Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I. Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. Neurology. 2006 Mar 14;66(5):745-7. PubMed citation
Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. Review. PubMed citation
Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K. Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. J Hum Genet. 2004;49(7):376-9. Epub 2004 Jun 12. PubMed citation
Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. PubMed citation
Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K. Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. J Hum Genet. 2006;51(7):625-8. Epub 2006 Jun 13. PubMed citation
Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol. 2002 Jun;51(6):709-15. PubMed citation
Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D. Autosomal-recessive Charcot-Marie-Tooth diseases. J Neuropathol Exp Neurol. 2005 May;64(5):363-70. Review. PubMed citation
Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. PubMed citation