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Haruko Nakamura

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Articles 34
Citations 428
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Recent Articles
1.
Kunii M, Kishida H, Tada M, Okamoto M, Asano K, Nakamura H, et al.
BMC Neurol . 2024 Nov; 24(1):456. PMID: 39578797
Background: Diffusion-weighted magnetic resonance imaging (DWI) is essential for diagnosing Creutzfeldt-Jakob disease (CJD). Thalamic lesions are rarely detected by DWI in sporadic CJD (sCJD) cases with methionine homozygosity at polymorphic...
2.
Nakamura H, Doi H, Miyaji Y, Wada T, Takahashi E, Tada M, et al.
BMC Neurol . 2024 Sep; 24(1):310. PMID: 39232641
Background: Pathogenic variants in Gap junction protein beta 1 (GJB1), which encodes Connexin 32, are known to cause X-linked Charcot-Marie-Tooth disease (CMTX), the second most common form of CMT. CMTX...
3.
Korff A, Yang X, ODonovan K, Gonzalez A, Teubner B, Nakamura H, et al.
J Clin Invest . 2024 Apr; 134(8). PMID: 38618962
No abstract available.
4.
Hagihara H, Shoji H, Hattori S, Sala G, Takamiya Y, Tanaka M, et al.
Elife . 2024 Mar; 12. PMID: 38529532
Increased levels of lactate, an end-product of glycolysis, have been proposed as a potential surrogate marker for metabolic changes during neuronal excitation. These changes in lactate levels can result in...
5.
Freibaum B, Messing J, Nakamura H, Yurtsever U, Wu J, Kim H, et al.
J Cell Biol . 2024 Jan; 223(3). PMID: 38284934
Stress granule formation is triggered by the release of mRNAs from polysomes and is promoted by the action of the RNA-binding proteins G3BP1/2. Stress granules have been implicated in several...
6.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, et al.
Ann Neurol . 2023 Dec; 95(3):607-613. PMID: 38062616
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG/ACAGG repeat expansion (AAGGG-exp/ACAGG-exp) in RFC1. The recent identification of patients with CANVAS...
7.
Korff A, Yang X, ODonovan K, Gonzalez A, Teubner B, Nakamura H, et al.
J Clin Invest . 2023 Jul; 133(14). PMID: 37463454
Mutations in HNRNPH2 cause an X-linked neurodevelopmental disorder with features that include developmental delay, motor function deficits, and seizures. More than 90% of patients with hnRNPH2 have a missense mutation...
8.
Freibaum B, Messing J, Nakamura H, Yurtsever U, Wu J, Kim H, et al.
bioRxiv . 2023 Jul; PMID: 37425931
Stress granule formation is triggered by the release of mRNAs from polysomes and is promoted by the action of the paralogs G3BP1 and G3BP2. G3BP1/2 proteins bind mRNAs and thereby...
9.
Kawamoto Y, Tada M, Asano T, Nakamura H, Jitsuki-Takahashi A, Makihara H, et al.
Front Neurol . 2022 Oct; 13:994676. PMID: 36237616
In amyotrophic lateral sclerosis (ALS), neurodegeneration is characterized by distal axonopathy that begins at the distal axons, including the neuromuscular junctions, and progresses proximally in a "dying back" manner prior...
10.
Asano T, Nakamura H, Kawamoto Y, Tada M, Kimura Y, Takano H, et al.
eNeuro . 2022 May; 9(3). PMID: 35523582
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and fatal neurodegenerative disorder that affects upper and lower motor neurons; however, its pathomechanism has not been fully elucidated. Using a comprehensive...