Results 121 to 130 of about 5,680,060 (316)

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

General Electric Atomic Power Equipment Department Report GEAP-4645

, 1964
The United States and the European Atomic Energy Community (Euratom), on May 29, and June 18, 1958, signed an agreement which provides a basis for co-operation in programs for the advancement of the peaceful applications of atomic energy.
Howard, C. L.
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Pathfinder Atomic Power Plant Technical Progress Report [PDF]

, 1958
Pathfinder atomic power plant progress ...

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Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Experimental study on hydraulic characteristics of the passive valves for the waste heat removal system of pool-type sodium-cooled fast reactor

International Journal of Advanced Nuclear Reactor Design and Technology
As the control module of the waste heat removal system, the passive valve is a key safeguard for the safe operation of pool-type sodium-cooled fast reactors.
Jiong Zhang, Zhenjia Chen, Linlin Pan, Hongyi Yang, Bo Wang, Yukang Liu   +5 more
doaj   +1 more source

Atomic Energy Commission Report ACNP-5904

, 1955
Introduction: This is the fifth of a series of reports covering technical progress on the research and development program being performed in connection with the design of the Pathfinder Atomic Power ...
Allis-Chalmers Manufacturing Company
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Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Analysis of particles containing alpha emitters in stagnant water in Fukushima Daiichi Nuclear Power Station’s Unit 3 reactor building

Scientific Reports
Particles containing alpha (α) nuclides were identified from sediment in stagnant water in the Unit 3 reactor building of the Fukushima Daiichi Nuclear Power Station (FDiNPS).
Takumi Yomogida, Kazuki Ouchi, Shiori Morii, Toshitaka Oka, Yoshihiro Kitatsuji, Yoshikazu Koma, Katsuhiro Konno   +6 more
doaj   +1 more source

General Electric Atomic Power Equipment Department Report GEAP-4607

, 1964
The United States and the European Atomic Energy Community (Euratom), on May 29, and June 18, 1958, signed an agreement which provides a basis for co-operation in programs for the advancement of the peaceful applications of atomic energy.
Howard, C. L.
core  

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source