Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

Molecular genetic study of Calpainopathy in Iran

(2018) Marzieh Mojbafan et al.   GENE

Inhibition of mitochondrial calcium uptake 1 in Drosophila neurons

(2017) P.G. M’Angale et al.   GENETICS AND MOLECULAR RESEARCH

Mutation/SNP analysis in EF-hand calcium binding domain of mitochondrial Ca2+ uptake 1 gene in bipolar disorder patients

(2016) Roghaiyeh Safari et al.   Journal of Integrative Neuroscience

Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group

(2016) Marzieh Mojbafan et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping

(2016) Marzieh Mojbafan et al.   JOURNAL OF NEUROGENETICS

Limb-girdle muscular dystrophies — international collaborations for translational research

(2016) Rachel Thompson et al.   Nature Reviews Neurology

MICU1 Serves as a Molecular Gatekeeper to Prevent In Vivo Mitochondrial Calcium Overload

(2016) Julia C. Liu et al.   Cell Reports

The Ca2+-Dependent Release of the Mia40-Induced MICU1-MICU2 Dimer from MCU Regulates Mitochondrial Ca2+ Uptake

(2015) Carmelina Petrungaro et al.   Cell Metabolism

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Structural and mechanistic insights into MICU1 regulation of mitochondrial calcium uptake

(2014) L. Wang et al.   EMBO JOURNAL

MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter

(2014) K. J. Kamer et al.   EMBO REPORTS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The mitochondrial calcium uniporter complex: molecular components, structure and physiopathological implications

(2013) Saverio Marchi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

(2013) Clare V Logan et al.   NATURE GENETICS

MICU1 Motifs Define Mitochondrial Calcium Uniporter Binding and Activity

(2013) Nicholas E. Hoffman et al.   Cell Reports

MICU1 Is an Essential Gatekeeper for MCU-Mediated Mitochondrial Ca2+ Uptake that Regulates Cell Survival

(2012) Karthik Mallilankaraman et al.   CELL

MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake

(2010) Fabiana Perocchi et al.   NATURE