Associated Papers
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Kaur P et al.
Clinical Genetics, 2021
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1.
Shukla A et al.
Journal of Pediatric Genetics, 2018
A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
Finsterer J et al.
Journal of Human Genetics, 2017
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
Shukla A et al.
Journal of Human Genetics, 2017
The promise of discovering population-specific disease-associated genes in South Asia.
Nakatsuka N et al.
Nature Genetics, 2017
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
Shukla A et al.
Journal of Human Genetics, 2017
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