U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 4

1.
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report
Asheeta Gupta, Isabel Colmenero, Nicola K. Ragge, Emma L. Blakely, Langping He, Robert McFarland, Robert W. Taylor, Julie Vogt, David V. Milford
BMC Res Notes. 2016; 9: 325. Published online 2016 Jun 27. doi: 10.1186/s13104-016-2131-2
PMCID:
PMC4924262
AbstractArticlePDF–1.4M
2.
MERRF and Kearns-Sayre overlap syndrome due to the mtDNA m.3291T>C mutation
Valentina Emmanuele, David S. Silvers, Evangelia Sotiriou, Kurenai Tanji, Salvatore DiMauro, Michio Hirano
Muscle Nerve. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Muscle Nerve. 2011 Sep; 44(3): 448–451. doi: 10.1002/mus.22149
PMCID:
PMC3197731
AbstractArticlePDF–386K
3.
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript
Mansour Alemi, Alessandro Prigione, Alice Wong, Robert Schoenfeld, Salvatore DiMauro, Michio Hirano, Franco Taroni, Gino Cortopassi
Free Radic Biol Med. Author manuscript; available in PMC 2007 Jul 20.
Published in final edited form as: Free Radic Biol Med. 2007 Jan 1; 42(1): 32–43. Published online 2006 Sep 19. doi: 10.1016/j.freeradbiomed.2006.09.014
PMCID:
PMC1927835
AbstractArticlePDF–615K
4.
Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome).
J Vaamonde, J Muruzabal, T Tuñón, N Perez, J Artieda, M Rodriguez, J A Obeso
J Neurol Neurosurg Psychiatry. 1992 Feb; 55(2): 128–132. doi: 10.1136/jnnp.55.2.128
PMCID:
PMC488976
SummaryPage BrowsePDF–1.6M

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center