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Items: 19

1.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Tang S, Dimberg EL, Milone M, Wong LJ.

J Neurol. 2012 May;259(5):862-8. doi: 10.1007/s00415-011-6268-6. Epub 2011 Oct 13.

PMID:
21993618
2.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Hirano M, Nishigaki Y, Martí R.

Neurologist. 2004 Jan;10(1):8-17. Review.

PMID:
14720311
3.

MNGIE: from nuclear DNA to mitochondrial DNA.

Nishino I, Spinazzola A, Hirano M.

Neuromuscul Disord. 2001 Jan;11(1):7-10. Review.

PMID:
11166160
4.

Disorders of nuclear-mitochondrial intergenomic signaling.

Spinazzola A, Zeviani M.

Gene. 2005 Jul 18;354:162-8. Review.

PMID:
15921863
5.

Polymerase gamma 1 mutations: clinical correlations.

Milone M, Massie R.

Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.

PMID:
20220442
6.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.

Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R.

Biosci Rep. 2007 Jun;27(1-3):151-63. Review.

PMID:
17549623
7.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA.

Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Review.

PMID:
25660390
8.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
9.

Movement disorders in mitochondrial diseases.

Tranchant C, Anheim M.

Rev Neurol (Paris). 2016 Aug - Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Review.

PMID:
27476418
10.

[Mitochondrial Neuro-Gastro-Intestinal Encephalopathy (MNGIE): When and how to suspect it in front of an atypical anorexia nervosa?]

Danjou M, Guardia D, Geoffroy PA, Seguy D, Cottencin O.

Encephale. 2016 Dec;42(6):574-579. doi: 10.1016/j.encep.2016.05.002. Epub 2016 Jun 28. Review. French.

PMID:
27371119
11.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

12.

[MNGIE syndrome in 2 siblings].

Debouverie M, Wagner M, Ducrocq X, Grignon Y, Mousson B, Weber M.

Rev Neurol (Paris). 1997 Oct;153(10):547-53. Review. French.

PMID:
9684018
13.

Mitochondrial syndromes with leukoencephalopathies.

Wong LJ.

Semin Neurol. 2012 Feb;32(1):55-61. doi: 10.1055/s-0032-1306387. Epub 2012 Mar 15. Review.

PMID:
22422207
14.

Defects in mitochondrial DNA replication and human disease.

Copeland WC.

Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Review.

15.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2014 Apr 17.

16.

Mitochondrial Neurogastrointestinal Encephalopathy Disease.

Hirano M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Apr 22 [updated 2016 Jan 14].

17.

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G.

J Mol Neurosci. 2011 May;44(1):17-24. doi: 10.1007/s12031-010-9488-9. Epub 2011 Jan 8. Review.

PMID:
21221844
18.

Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses.

Dreznik Y, Gutman M, Weiss B, Nevler A.

J Gastrointest Surg. 2014 Nov;18(11):2054-6. doi: 10.1007/s11605-014-2589-y. Epub 2014 Jul 15. Review.

PMID:
25022257
19.

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

Rahman S.

J Inherit Metab Dis. 2013 Jul;36(4):659-73. doi: 10.1007/s10545-013-9614-2. Epub 2013 May 15. Review.

PMID:
23674168

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