Literature DB >> 28615676

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Anju Shukla1, Malavika Hebbar1, Katta M Girisha1.   

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Year:  2017        PMID： 28615676     DOI： 10.1038/jhg.2017.65

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  2 in total

1.  A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  J Hum Genet       Date:  2017-06-15       Impact factor: 3.172

2.  Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Authors:  Anju Shukla; Malavika Hebbar; Anshika Srivastava; Rajagopal Kadavigere; Priyanka Upadhyai; Anil Kanthi; Oliver Brandau; Stephanie Bielas; Katta M Girisha
Journal:  J Hum Genet       Date:  2017-03-30       Impact factor: 3.172
  2 in total
  2 in total

1.  Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Authors:  A Hammarsjö; Z Wang; R Vaz; F Taylan; M Sedghi; K M Girisha; D Chitayat; K Neethukrishna; P Shannon; R Godoy; K Gowrishankar; A Lindstrand; J Nasiri; M Baktashian; P T Newton; L Guo; W Hofmeister; M Pettersson; A S Chagin; G Nishimura; L Yan; N Matsumoto; A Nordgren; N Miyake; G Grigelioniene; S Ikegawa
Journal:  Sci Rep       Date:  2017-11-14       Impact factor: 4.379

2.  Novel rat model of multiple mitochondrial dysfunction syndromes (MMDS) complicated with cardiomyopathy.

Authors:  Yahao Ling; Jiaxin Ma; Xiaolong Qi; Xu Zhang; Qi Kong; Feifei Guan; Wei Dong; Wei Chen; Shan Gao; Xiang Gao; Shuo Pan; Yuanwu Ma; Dan Lu; Lianfeng Zhang
Journal:  Animal Model Exp Med       Date:  2021-12-06
  2 in total

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