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PMPCA gene

Known as: KIAA0123, peptidase, mitochondrial processing alpha subunit, MITOCHONDRIAL PROCESSING PEPTIDASE-ALPHA 
 
National Institutes of Health

Papers overview

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2019
2019
A 7-year-old boy was referred at age 24 months with failure to thrive, global psychomotor delay, and spastic-ataxic gait with… Expand
Highly Cited
2018
Highly Cited
2018
Transactive response DNA-binding protein of 43 kDa (TDP-43) functions as a heterogeneous nuclear ribonucleoprotein and is the… Expand
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2016
2016
We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem… Expand
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2016
2016
Sir, Recently, Jobling et al. (2015) reported the identification of mutations in PMPCA in 17 patients from four families… Expand
Review
2016
Review
2016
Mitochondrial disease is now recognized to represent a highly heterogeneous group of genetic disorders that impair energy… Expand
2015
2015
Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile… Expand
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2015
2015
This scientific commentary refers to ‘ PMPCA mutations cause abnormal mitochondrial protein processing in patients with non… Expand
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2013
2013
Pluit terletak di pantai utara Jakarta, dan secara topografis areanya berada di bawah permukaan air laut. Hal ini menyebabkan… Expand
2012
2012
KUALALUMPUR 9 Sept.- Kepimpinan Majlis Perwakilan Pelajar " (MPP) yang sentiasa memperjuangkan isu-isu ke arah mengembangkan… Expand