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FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients

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  1. Article

    Open Access

    Gait video-based prediction of unified Parkinson’s disease rating scale score: a retrospective study

    The diagnosis of Parkinson’s disease (PD) and evaluation of its symptoms require in-person clinical examination. Remote evaluation of PD symptoms is desirable, especially during a pandemic such as the coronavi...

    Katsuki Eguchi, Ichigaku Takigawa, Shinichi Shirai, Ikuko Takahashi-Iwata in BMC Neurology (2023)

  2. Article

    Open Access

    Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis

    To evaluate the efficacy and safety of perampanel in patients with sporadic amyotrophic lateral sclerosis (SALS).

    Hitoshi Aizawa, Haruhisa Kato, Koji Oba, Takuya Kawahara in Journal of Neurology (2022)

  3. Article

    Open Access

    Correlation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series

    Weight gain (WG) is a frequently reported side effect of subthalamic deep brain stimulation; however, the underlying mechanisms remain unclear. The active contact locations influence the clinical outcomes of s...

    Katsuki Eguchi, Shinichi Shirai, Masaaki Matsushima, Takahiro Kano in BMC Neurology (2021)

  4. Article

    Open Access

    Identification of plasma microRNA expression changes in multiple system atrophy and Parkinson’s disease

    MicroRNAs (miRNAs) are endogenous small (18–25 nt), single-stranded, non-coding RNAs that play key roles in post-transcriptional gene expression regulation. The expression profiles of miRNAs in biofluids and t...

    Hisashi Uwatoko, Yuka Hama, Ikuko Takahashi Iwata, Shinichi Shirai in Molecular Brain (2019)

  5. Article

    Open Access

    Genomic copy number variation analysis in multiple system atrophy

    Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). CNVs affect gene expression by altering the genome structure and transposable ele...

    Yuka Hama, Masataka Katsu, Ichigaku Takigawa, Ichiro Yabe in Molecular Brain (2017)

  6. Article

    Open Access

    Validity and reliability of a pilot scale for assessment of multiple system atrophy symptoms

    Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared ...

    Masaaki Matsushima, Ichiro Yabe, Ikuko Takahashi, Makoto Hirotani in Cerebellum & Ataxias (2017)

  7. Article

    Open Access

    Identification of plasma microRNAs as a biomarker of sporadic Amyotrophic Lateral Sclerosis

    Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease, which leads to the loss of upper and lower motor neurons, with a currently unknown etiology. Specific biomarkers could help in early de...

    Ikuko Takahashi, Yuka Hama, Masaaki Matsushima, Makoto Hirotani in Molecular Brain (2015)

  8. Article

    Open Access

    Hyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy

    Hyperintense putaminal rim (HPR) is an important magnetic resonance imaging (MRI) sign for multiple system atrophy (MSA). Recent studies have suggested that it can also be observed in normal subjects at 3 T. W...

    Khin K Tha, Satoshi Terae, Akiko Tsukahara, Hiroyuki Soma, Ryo Morita in BMC Neurology (2012)

  9. Article

    Open Access

    Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy

    Multiple system atrophy (MSA) is a sporadic disease. Its pathogenesis may involve multiple genetic and nongenetic factors, but its etiology remains largely unknown. We hypothesized that the genome of a patient...

    Hidenao Sasaki, Mitsuru Emi, Hiroshi Iijima, Noriko Ito, Hidenori Sato in Molecular Brain (2011)

  10. Article

    Open Access

    An examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis

    The Apo-1/Fas (CD95) molecule is an apoptosis-signaling cell surface receptor belonging to the tumor necrosis factor (TNF) receptor family. Both Fas and Fas ligand (FasL) are expressed in activated mature T ce...

    Masaaki Niino, Seiji Kikuchi, Toshiyuki Fukazawa, Ryuji Miyagishi in BMC Neurology (2002)