Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background

(2019) Atsuko Imai-Okazaki et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Barth Syndrome: Different Approaches to Diagnosis

(2018) Atsuko Imai-Okazaki et al.   JOURNAL OF PEDIATRICS

Mitochondrial medicine in the omics era

(2018) Joyeeta Rahman et al.   LANCET

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing

(2017) Atsuko Imai-Okazaki et al.   HUMAN MUTATION

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein

(2016) Atsuko Imai et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy

(2016) Atsuko Imai et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

(2016) Atsuko Imai et al.   JOURNAL OF HUMAN GENETICS

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

(2015) Karim Wahbi et al.   EUROPEAN HEART JOURNAL

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

(2012) M. G. D. Bates et al.   EUROPEAN HEART JOURNAL

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

(2012) Tomas Honzik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Reducing bias through directed acyclic graphs

(2008) Ian Shrier et al.   BMC Medical Research Methodology