Results 101 to 110 of about 88,433 (264)
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
IEEE AccessMachine learning (ML) has emerged as an effective approach for optimizing circuit design and bringing a paradigm shift in the development of wireless power transfer (WPT) systems. Being the main building blocks of near-field WPT, the slotted ground plane
K. Dautov +5 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and immune profiles in individuals with DSRD was performed.
Jonathan D. Santoro +12 more
wiley +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Electromechanical Filter Composed of Transversely Vibrating Resonators for Low Frequencies [PDF]
, 1967 Masashi Konno +2 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah +6 more
wiley +1 more source
Resonator Q modulation of gas lasers with an external moving mirror [PDF]
, 1967 Th.H. Peek +2 more
openalex +1 more source
Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe +15 more
wiley +1 more source
Lossfree Twin-Tube Resonator and the Vowel Triangle of Hellwag [PDF]
, 1965 H. Mol
openalex +1 more source