U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 5

1.
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report
Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu
BMC Med Genet. 2019; 20: 146. Published online 2019 Aug 27. doi: 10.1186/s12881-019-0875-y
PMCID:
PMC6712797
AbstractArticlePDF–1.3M
2.
Mitochondrial RNA granules are critically dependent on mtDNA replication factors Twinkle and mtSSB
Fenna Hensen, Alisa Potter, Selma L van Esveld, Aleix Tarrés-Solé, Arka Chakraborty, Maria Solà, Johannes N Spelbrink
Nucleic Acids Res. 2019 Apr 23; 47(7): 3680–3698. Published online 2019 Feb 1. doi: 10.1093/nar/gkz047
PMCID:
PMC6468249
AbstractArticlePDF–27M
3.
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase
Bradley Peter, Geraldine Farge, Carlos Pardo-Hernandez, Stefan Tångefjord, Maria Falkenberg
Hum Mol Genet. 2019 Apr 1; 28(7): 1090–1099. Published online 2018 Nov 29. doi: 10.1093/hmg/ddy415
Correction in:
Hum Mol Genet. 2020 Feb 1; 29(3): 528.
PMCID:
PMC6423418
AbstractArticlePDF–33M
4.
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T. Epplen, Larissa Arning
BMC Neurol. 2018; 18: 3. Published online 2018 Jan 9. doi: 10.1186/s12883-017-1009-9
PMCID:
PMC5761156
AbstractArticlePDF–496K
5.
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
K Nikali, A Suomalainen, J Terwilliger, T Koskinen, J Weissenbach, L Peltonen
Am J Hum Genet. 1995 May; 56(5): 1088–1095.
Correction in:
Am J Hum Genet. 1995 Jan; 56(1): 356.
PMCID:
PMC1801458
SummaryPage BrowsePDF–1.4M

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