Results 151 to 160 of about 135,234 (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

Isotopic analyses of nitrogenous compounds from the Murchison meteorite: Ammonia, amines, amino acids, and polar hydrocarbons

, 1994
The combined volatile bases (ammonia, aliphatic amines, and possibly other bases), ammonia, amino acids, and polar hydrocarbons were prepared from the Murchison meteorite for isotopic analyses. The volatile bases were obtained by cryogenic transfer after
Pizzarello, S., Cronin, J. R., Epstein, S., Feng, X.   +3 more
core  

Fermentation Enhances Antioxidant, Antiplatelet, and Anti-Inflammatory Properties of Oat- and Soy-Derived Dairy Alternatives. [PDF]

Nutrients
Koutis N, Liepouris G, Moysidou I, Vogiatzaki L, Shiels K, Saha SK, Ofrydopoulou A, Tsoupras A.   +7 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

<i>Chlorella vulgaris</i> lipid extraction side-stream enhances growth and protein enrichment in novel food <i>Lemna minor</i> (duckweed). [PDF]

Front Nutr
Fais G, Castelli S, Dessì D, Perra G, Lai N, Cao G, Concas A.   +6 more
europepmc   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Solvent-Dependent GC-MS Fingerprinting of Lipophilic Constituents in <i>Syzygium polyanthum</i> Leaves: A Baseline Study for Future Greener Extraction Optimization. [PDF]

Molecules
Paat FJ, Sintaro S.
europepmc   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

From Nutritional Profile to Circular Bioeconomy: A Review of Sea Buckthorn Oil and By-Product Valorization. [PDF]

Foods
Jiang X, Sun M, Deng W, Zhu M, Wang L, Zheng L, Xing J, Hong J.   +7 more
europepmc   +1 more source