Similar articles for PMID: 30239779

Year	Number of Results
1992	1
1993	1
1996	4
1997	1
1998	4
1999	8
2000	6
2001	4
2002	3
2003	6
2004	8
2005	4
2006	8
2007	1
2008	4
2009	3
2010	11
2011	7
2012	12
2013	4
2014	1
2015	3
2016	3
2017	1
2018	4
2019	4
2020	8
2021	4
2022	5
2023	1
2024	0

1

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.

Fratta P, Ornaghi F, Dati G, Zambroni D, Saveri P, Belin S, D'Adamo P, Shy M, Quattrini A, Laura Feltri M, Wrabetz L. Fratta P, et al. Hum Mol Genet. 2019 Jan 1;28(1):124-132. doi: 10.1093/hmg/ddy336. Hum Mol Genet. 2019. PMID: 30239779 Free PMC article.

2

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ. Braathen GJ. Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013. Acta Neurol Scand Suppl. 2012. PMID: 23106488

3

Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.

Otani Y, Ohno N, Cui J, Yamaguchi Y, Baba H. Otani Y, et al. Commun Biol. 2020 Mar 13;3(1):121. doi: 10.1038/s42003-020-0854-z. Commun Biol. 2020. PMID: 32170207 Free PMC article.

4

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR. Warner LE, et al. Neuron. 1996 Sep;17(3):451-60. doi: 10.1016/s0896-6273(00)80177-4. Neuron. 1996. PMID: 8816708 Free article.

5

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.

Shames I, Fraser A, Colby J, Orfali W, Snipes GJ. Shames I, et al. J Neuropathol Exp Neurol. 2003 Jul;62(7):751-64. doi: 10.1093/jnen/62.7.751. J Neuropathol Exp Neurol. 2003. PMID: 12901701

6

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME. Saporta MA, et al. Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10. Brain. 2012. PMID: 22689911 Free PMC article.

7

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.

Chavada G, Rao DG, Martindale J, Hadjivassiliou M. Chavada G, et al. J Clin Neuromuscul Dis. 2012 Jun;13(4):206-8. doi: 10.1097/CND.0b013e3182461a83. J Clin Neuromuscul Dis. 2012. PMID: 22622165

8

Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.

Kochański A. Kochański A. Acta Myol. 2004 May;23(1):6-9. Acta Myol. 2004. PMID: 15298082 Review.

9

Congenital hypomyelination due to myelin protein zero Q215X mutation.

Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A. Mandich P, et al. Ann Neurol. 1999 May;45(5):676-8. doi: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k. Ann Neurol. 1999. PMID: 10319895

10

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR. Murakami T, et al. Medicine (Baltimore). 1996 Sep;75(5):233-50. doi: 10.1097/00005792-199609000-00001. Medicine (Baltimore). 1996. PMID: 8862346 Free article. Review.

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