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PubMed (cited) for id: 605589
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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
Neurogenetics. 2018 Dec;19(4):215-225. doi: 10.1007/s10048-018-0555-7. Epub 2018 Jul 24.
Neurogenetics. 2018.
PMID: 30039206
Free PMC article.
Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.
Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F.
Pedroso JL, et al.
Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec.
Neurol Genet. 2015.
PMID: 27066567
Free PMC article.
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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B.
Leal A, et al.
Neurogenetics. 2009 Oct;10(4):275-87. doi: 10.1007/s10048-009-0183-3. Epub 2009 Mar 17.
Neurogenetics. 2009.
PMID: 19290556
Free PMC article.
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Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D.
Berghoff C, et al.
Neuromuscul Disord. 2004 May;14(5):301-6. doi: 10.1016/j.nmd.2004.02.004.
Neuromuscul Disord. 2004.
PMID: 15099588
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A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.
Leal A, et al.
Am J Hum Genet. 2001 Jan;68(1):269-74. doi: 10.1086/316934. Epub 2000 Dec 7.
Am J Hum Genet. 2001.
PMID: 11112660
Free PMC article.
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