Kazuki Watanabe

发表

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

H. Saitsu, M. Nakashima, H. Miyajima, 2022, Neurology: Genetics.

[A case of colchicine myopathy in which the long-term use of colchicine hampered the recovery].

I. Nishino, H. Miyajima, T. Bunai, 2020, Rinsho shinkeigaku = Clinical neurology.

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

H. Osaka, H. Saitsu, M. Nakashima, 2022, Human Genome Variation.

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4

Y. Inoue, Takayoshi Inoue, I. Nishino, 2022, bioRxiv.

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2021, Journal of Human Genetics.

An Autopsy Case of Antibody-negative Immune-mediated Necrotizing Myopathy with Severe Cardiac Involvement

H. Miyajima, Yuichiro Maekawa, Y. Wakabayashi, 2021, Internal medicine.

Involvement of the Rostromedial Prefrontal Cortex in Human-Robot Interaction: fNIRS Evidence From a Robot-Assisted Motor Task

T. Ono, H. Nishijo, H. Ogawa, 2022, Frontiers in Neurorobotics.

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, Frontiers in genetics.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, Neurogenetics.