Results 161 to 170 of about 742,356 (291)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Targeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases. [PDF]

Pharmacol Rep
Pinho BR, Martins V, Chacko AR, Nogueira C, Duchen MR, Oliveira JMA.   +5 more
europepmc   +1 more source

The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases. [PDF]

J Lasers Med Sci, 2023
Baskerville R, Krijgsveld N, Esser P, Jeffery G, Poulton J.   +4 more
europepmc   +1 more source

The Case of a 19‐Year‐Old Woman Presenting With Headache and Transient Loss of Consciousness

Annals of Clinical and Translational Neurology, EarlyView.
Yan Lin, Xiaoyu Zhou, Lin Shen, Kunqian Ji, Yuying Zhao, Chuanzhu Yan, Yiming Liu, Wei Li   +7 more
wiley   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances. [PDF]

MedComm (2020)
Mei J, Ding P, Gao C, Zhou J, Li Z, Zhang C, Gao J.   +6 more
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases. [PDF]

Eur J Immunol
Marchais M, Pennisi A, Pierga A, Lepelley A, Cagnard N, Bole C, Nitschke P, Hamici M, Rieux-Laucat F, Schiff M, Munnich A, Rötig A.   +11 more
europepmc   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome. [PDF]

Dev Med Child Neurol
Planté-Bordeneuve P, Bérat CM, Hanein S, Gitiaux C, ATAD3 Study Group, Steffann J, Desguerre I, Rötig A, Boddaert N, Barcia G.   +9 more
europepmc   +1 more source