Literature DB >> 29789987

ISCA2 mutations manifest differentially from DARS2 mutations.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

Abstract

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Year:  2018        PMID： 29789987     DOI： 10.1007/s11011-018-0253-z

Source DB:  PubMed          Journal:  Metab Brain Dis        ISSN： 0885-7490            Impact factor:   3.584


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  5 in total

1.  Glucocorticoids for mitochondrial disorders.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Singapore Med J       Date:  2015-02       Impact factor: 1.858

2.  ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

Authors:  Zuhair N Al-Hassnan; Mazhor Al-Dosary; Majid Alfadhel; Eissa A Faqeih; Maysoon Alsagob; Rosan Kenana; Rawan Almass; Olfat S Al-Harazi; Hindi Al-Hindi; Omhani I Malibari; Faten B Almutari; Sahar Tulbah; Faten Alhadeq; Tarfa Al-Sheddi; Rana Alamro; Ali AlAsmari; Makki Almuntashri; Hesham Alshaalan; Futwan A Al-Mohanna; Dilek Colak; Namik Kaya
Journal:  J Med Genet       Date:  2014-12-24       Impact factor: 6.318

Review 3.  Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Authors:  Irene Toldo; Margherita Nosadini; Chiara Boscardin; Giacomo Talenti; Renzo Manara; Eleonora Lamantea; Andrea Legati; Daniele Ghezzi; Giorgio Perilongo; Stefano Sartori
Journal:  Metab Brain Dis       Date:  2018-01-23       Impact factor: 3.584

4.  Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Authors:  Majid Alfadhel; Marwan Nashabat; Muhammad Talal Alrifai; Hesham Alshaalan; Fuad Al Mutairi; Saif A Al-Shahrani; Barbara Plecko; Rawan Almass; Maysoon Alsagob; Faten B Almutairi; Ahmed Al-Rumayyan; Waleed Al-Twaijri; Mohammed Al-Owain; Robert W Taylor; Namik Kaya
Journal:  Eur J Paediatr Neurol       Date:  2017-10-16       Impact factor: 3.140

Review 5.  Involvement of the Spinal Cord in Mitochondrial Disorders.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  J Neurosci Rural Pract       Date:  2018 Apr-Jun
  5 in total

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