Atsuko Imai-Okazaki

发表

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A

K. Nitta, Y. Kishita, A. Ohtake, 2021, Mitochondrion.

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

Y. Okazaki, T. Fuchigami, Y. Kishita, 2020, Journal of inherited metabolic disease.

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Jafar S. Jabbari, V. Mootha, Y. Okazaki, 2020, Med.

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

K. Nitta, H. Osaka, Y. Kishita, 2022, Journal of Medical Genetics.

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

Y. Okazaki, Y. Kishita, A. Imai-Okazaki, 2020, Molecular genetics & genomic medicine.

Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease

K. Nitta, A. Imai-Okazaki, A. Ohtake, 2022, Journal of inherited metabolic disease.

Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy

Y. Okazaki, A. Nagai, J. Abe, 2020, Journal of Clinical Pathology.

Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy

K. Hayashi, M. Yamagishi, S. Takashima, 2019, ESC heart failure.

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

A. Ohtake, K. Murayama, Y. Akioka, 2023, Molecular genetics and metabolism reports.

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Y. Okazaki, Y. Sakata, A. Takeda, 2019, International journal of cardiology.

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

K. Nitta, Y. Sakata, A. Takeda, 2021, International journal of cardiology.

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

K. Nitta, Y. Kishita, A. Ohtake, 2021, Archives of Disease in Childhood.

Barth Syndrome: Different Approaches to Diagnosis.

Y. Okazaki, Y. Sakata, A. Takeda, 2017, The Journal of pediatrics.

Clinical heterogeneity in patients with m.4412G>A MT-TM mutation and different heteroplasmy levels.

K. Nitta, A. Ohtake, K. Murayama, 2021, Mitochondrion.

A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects

K. Sekiguchi, D. Motooka, Y. Isaka, 2022, JCI insight.

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Y. Okazaki, J. Abe, A. Takeda, 2020, Brain : a journal of neurology.

Heterozygosity mapping for human dominant trait variants

J. Ott, S. Leal, M. Lathrop, 2019, Human Mutation.

Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report

A. Imai-Okazaki, K. Murayama, Jun Kido, 2021, Brain and Development.