Fumihito Nozaki

<i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

Chihiro Ohba, Masaaki Shiina, Jun Tohyama et al. · Epilepsia · 2015 · 92 citations · Full text

Medicine, Genetics, Neurology +17

Prenatal clinical manifestations in individuals with <i>COL4A1/2</i> variants

Toshiyuki Itai, Satoko Miyatake, Masataka Taguri et al. · Journal of Medical Genetics · 2020 · 43 citations

Medicine, Genetics, Obstetrics +16

Efficacy of pyruvate therapy in patients with mitochondrial disease: A semi-quantitative clinical evaluation study

Tatsuya Fujii, Fumihito Nozaki, Keiko Saito et al. · Molecular Genetics and Metabolism · 2014 · 38 citations

Life Sciences, Pharmacotherapy, Physiology +16

A homozygous variant in <scp><i>NDUFA8</i></scp> is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

Yukiko Yatsuka, Yoshihito Kishita, Luke E. Formosa et al. · Clinical Genetics · 2020 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17

Familial acute necrotizing encephalopathy without <i><scp>RANBP</scp>2</i> mutation: Poor outcome

Naoko Nishimura, Yoshihisa Higuchi, Nobusuke Kimura et al. · Pediatrics International · 2016 · 21 citations

Life Sciences, Genetics, Neurology +12