PubMed (cited) for id: 256810

Year	Number of Results
1976	1
1990	1
1993	1
1999	2
2001	1
2006	2
2008	3
2009	1
2018	1
2024	0

1

El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. El-Hattab AW, et al. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29282788 Free article.

2

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M. Viscomi C, et al. Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24. Hum Mol Genet. 2009. PMID: 18818194 Free PMC article.

3

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M. Spinazzola A, et al. Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108. Arch Neurol. 2008. PMID: 18695062

4

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ. Ebermann I, et al. Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c. Neurology. 2008. PMID: 18541889 No abstract available.

5

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Karadimas CL, et al. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28. Am J Hum Genet. 2006. PMID: 16909392 Free PMC article.

6

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. Spinazzola A, et al. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582910

7

Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

Vu TH, Tanji K, Holve SA, Bonilla E, Sokol RJ, Snyder RD, Fiore S, Deutsch GH, Dimauro S, De Vivo D. Vu TH, et al. Hepatology. 2001 Jul;34(1):116-20. doi: 10.1053/jhep.2001.25921. Hepatology. 2001. PMID: 11431741

8

Southwestern Athabaskan (Navajo and Apache) genetic diseases.

Erickson RP. Erickson RP. Genet Med. 1999 May-Jun;1(4):151-7. doi: 10.1097/00125817-199905000-00007. Genet Med. 1999. PMID: 11258351 Free article.

9

Liver disease in Navajo neuropathy.

Holve S, Hu D, Shub M, Tyson RW, Sokol RJ. Holve S, et al. J Pediatr. 1999 Oct;135(4):482-93. doi: 10.1016/s0022-3476(99)70172-1. J Pediatr. 1999. PMID: 10518083

10

Familial sensory autonomic neuropathy with arthropathy in Navajo children.

Johnsen SD, Johnson PC, Stein SR. Johnsen SD, et al. Neurology. 1993 Jun;43(6):1120-5. doi: 10.1212/wnl.43.6.1120. Neurology. 1993. PMID: 8170555

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