121 related articles for article (PubMed ID: 28209105)
1. Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis.
Bitting CP; Hanson JA
Acta Gastroenterol Belg; 2016; 79(4):463-469. PubMed ID: 28209105
[TBL] [Abstract][Full Text] [Related]
2. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
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
Hum Mutat; 2018 Apr; 39(4):461-470. PubMed ID: 29282788
[TBL] [Abstract][Full Text] [Related]
3. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Baumann M; Schreiber H; Schlotter-Weigel B; Löscher WN; Stucka R; Karall D; Strom TM; Bauer P; Krabichler B; Fauth C; Glaeser D; Senderek J
Clin Genet; 2019 Jan; 95(1):182-186. PubMed ID: 30298599
[TBL] [Abstract][Full Text] [Related]
4. A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
di Punzio G; Gilberti M; Baruffini E; Lodi T; Donnini C; Dallabona C
Int J Mol Sci; 2021 Nov; 22(22):. PubMed ID: 34830106
[TBL] [Abstract][Full Text] [Related]
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
Am J Hum Genet; 2006 Sep; 79(3):544-8. PubMed ID: 16909392
[TBL] [Abstract][Full Text] [Related]
6. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ
Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
[TBL] [Abstract][Full Text] [Related]
7. Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Huang AC; Ebel NH; Romero D; Martin B; Jhun I; Brown M; Enns GM; Esquivel C; Bonham C
Pediatr Transplant; 2022 Aug; 26(5):e14274. PubMed ID: 35466509
[TBL] [Abstract][Full Text] [Related]
8. 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
Hepatology; 2001 Jul; 34(1):116-20. PubMed ID: 11431741
[TBL] [Abstract][Full Text] [Related]
9. [Diagnosis and treatment of hereditary neurological disorders during childhood].
Ohno K; Ohashi T
No To Hattatsu; 2007 Mar; 39(2):132-5. PubMed ID: 17370634
[No Abstract] [Full Text] [Related]
10. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J; Evans J; Smith C; Butterworth A; Craig K; Ashley N; Liao C; Carver J; Diot A; Macleod L; Hargreaves I; Al-Hussaini A; Faqeih E; Asery A; Al Balwi M; Eyaid W; Al-Sunaid A; Kelly D; van Mourik I; Ball S; Jarvis J; Mulay A; Hadzic N; Samyn M; Baker A; Rahman S; Stewart H; Morris AA; Seller A; Fratter C; Taylor RW; Poulton J
Eur J Hum Genet; 2014 Feb; 22(2):184-91. PubMed ID: 23714749
[TBL] [Abstract][Full Text] [Related]
11. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Navarro-Sastre A; Martín-Hernández E; Campos Y; Quintana E; Medina E; de Las Heras RS; Lluch M; Muñoz A; del Hoyo P; Martín R; Gort L; Briones P; Ribes A
Mol Genet Metab; 2008 Jun; 94(2):234-9. PubMed ID: 18329934
[TBL] [Abstract][Full Text] [Related]
12.
Hong KT; Lim BC; Moon JS; Ko JS
Korean J Gastroenterol; 2021 May; 77(5):248-252. PubMed ID: 34035203
[TBL] [Abstract][Full Text] [Related]
13. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
Parini R; Furlan F; Notarangelo L; Spinazzola A; Uziel G; Strisciuglio P; Concolino D; Corbetta C; Nebbia G; Menni F; Rossi G; Maggioni M; Zeviani M
J Hepatol; 2009 Jan; 50(1):215-21. PubMed ID: 19012992
[TBL] [Abstract][Full Text] [Related]
14. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited.
Qualls C; Kornfeld M; Joste N; Ali AM; Appenzeller O
eNeurologicalSci; 2016 Mar; 2():8-13. PubMed ID: 29473055
[TBL] [Abstract][Full Text] [Related]
15. Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.
Meldau S; De Lacy RJ; Riordan GTM; Goddard EA; Pillay K; Fieggen KJ; Marais AD; Van der Watt GF
Clin Genet; 2018 May; 93(5):1093-1096. PubMed ID: 29318572
[TBL] [Abstract][Full Text] [Related]
16. Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D; Pronicki M; Strawa K; Karkucińska-Więckowska A; Szymańska-Dębińska T; Fidziańska A; Więckowski MR; Jurkiewicz D; Ciara E; Jankowska I; Sykut-Cegielska J; Krajewska-Walasek M; Płoski R; Pronicka E
Clin Genet; 2014 Jun; 85(6):573-7. PubMed ID: 23829229
[TBL] [Abstract][Full Text] [Related]
17. MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report.
Pyal A; Paramasivam A; Meena AK; Bhavana VB; Thangaraj K
Mitochondrion; 2017 Nov; 37():41-45. PubMed ID: 28673863
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
Choi YR; Hong YB; Jung SC; Lee JH; Kim YJ; Park HJ; Lee J; Koo H; Lee JS; Jwa DH; Jung N; Woo SY; Kim SB; Chung KW; Choi BO
BMC Neurol; 2015 Oct; 15():179. PubMed ID: 26437932
[TBL] [Abstract][Full Text] [Related]
19. Outcomes after liver transplantation in MPV17 deficiency: A rebuttal.
Huang AC; Ebel NH; Romero D; Enns GM; Esquivel CO; Bonham C
Pediatr Transplant; 2023 May; 27(3):e14472. PubMed ID: 36872458
[No Abstract] [Full Text] [Related]
20. 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
Arch Neurol; 2008 Aug; 65(8):1108-13. PubMed ID: 18695062
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
