Literature DB >> 27354339

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Shahida Moosa1, Virginia Fano2, Maria Gabriela Obregon3, Janine Altmüller4,5, Holger Thiele5, Peter Nürnberg5,6, Gen Nishimura7, Bernd Wollnik1.   

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Year:  2016        PMID： 27354339     DOI： 10.1002/ajmg.a.37823

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Authors:  Long Guo; Nursel H Elcioglu; Shuji Mizumoto; Zheng Wang; Bilge Noyan; Hatice M Albayrak; Shuhei Yamada; Naomichi Matsumoto; Noriko Miyake; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2017-03-23       Impact factor: 3.172

Review 2.  Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.

Authors:  Tian Zhao; Caitlin Goedhart; Gerald Pfeffer; Steven C Greenway; Matthew Lines; Aneal Khan; A Micheil Innes; Timothy E Shutt
Journal:  Int J Mol Sci       Date:  2020-11-06       Impact factor: 5.923

Review 3.  Mitochondrial Protein Homeostasis and Cardiomyopathy.

Authors:  Emily Wachoski-Dark; Tian Zhao; Aneal Khan; Timothy E Shutt; Steven C Greenway
Journal:  Int J Mol Sci       Date:  2022-03-20       Impact factor: 5.923

Review 4.  Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Authors:  Eduardo Ruiz-Pesini; Julio Montoya; David Pacheu-Grau
Journal:  Genes (Basel)       Date:  2021-07-01       Impact factor: 4.096
  4 in total

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