Publications by authors named "Rui Shimazaki"

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Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies.
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi

Ann Clin Transl Neurol· November 2025

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Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features.
Rui Shimazaki, Satoru Noguchi, Wakako Yoshioka, Hotake Takizawa, Yuji Takahashi

Neuromuscul Disord· November 2025

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Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.
Seung-Ah Lee, Megumu Ogawa, Yoshihiko Saito, Rui Shimazaki, Tomonari Awaya

Genet Med· July 2025

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Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa

Orphanet J Rare Dis· January 2025

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Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorder.
Aki Murayama, Utako Nagaoka, Keizo Sugaya, Rui Shimazaki, Kazuhito Miyamoto

Neuromuscul Disord· November 2024

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Primary cauda equina lymphoma confirmed by autopsy: A case report.
Keisuke Ishizawa, Takashi Komori, Rui Shimazaki, Yasuhiro Nakata, Jun-Ichi Tamaru

Neuropathology· April 2024

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Case report: MRI-negative myelitis following COVID-19 with SEP abnormalities: a case series and literature review.
Kentaro Kawama, Rui Shimazaki, Yoko Sunami, Natsuki Miyakoshi, Shinsuke Tobisawa

Front Neurol· October 2023

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Dopa-responsive dystonia in spinocerebellar ataxia 6: A case report.
Jun Ikezawa, Rui Shimazaki, Shinsuke Tobisawa, Keizo Sugaya, Kazushi Takahashi

Clin Neurol Neurosurg· June 2023

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[A case of non-fluent/agrammatic variant of primary progressive aphasia with logoclonia].
Rui Shimazaki, Yoko Sunami, Mitsuaki Bando, Akiko Harada, Kazushi Takahashi

Rinsho Shinkeigaku· January 2023

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Difference between the MRI Findings for Neuro-Behçet Disease and Neuro-Sweet Disease.
Rui Shimazaki, Keizo Sugaya

Intern Med· September 2022

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Dystonic Tremor in Adult-onset DYT-KMT2B.
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa

Intern Med· August 2022

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Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Masashi Ogasawara, Nobuyuki Eura, Utako Nagaoka, Tatsuro Sato, Hajime Arahata, Rui Shimazaki

Neuropathol Appl Neurobiol· April 2022

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Iliopsoas Hematomas in a Patient with Progressive Encephalomyelitis with Rigidity and Myoclonus.
Rui Shimazaki, Masako Mukai, Utako Nagaoka, Keizo Sugaya, Kazushi Takahashi

Intern Med· August 2021

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Intraventricular Silicone Oil Migration Resembling Hemorrhagic Complication in a Patient with Ischemic Stroke Receiving Antithrombotic Therapy.
Rui Shimazaki, Marie Tsunogae, Masayuki Ueda

J Stroke Cerebrovasc Dis· February 2021

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Rimmed Vacuoles in Myositis Associated with Antimitochondrial Antibody.
Rui Shimazaki, Akinori Uruha, Hideki Kimura, Utako Nagaoka, Tomoya Kawazoe

J Clin Neurol· July 2020

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