Results 211 to 220 of about 8,980,708 (398)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee   +19 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas   +24 more
wiley   +1 more source

Bringing computational science to the public. [PDF]

open access: yesSpringerplus, 2016
McDonagh JL, Barker D, Alderson RG.
europepmc   +1 more source

Pulse Pressure, White Matter Hyperintensities, and Cognition: Mediating Effects Across the Adult Lifespan

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate whether pulse pressure or mean arterial pressure mediates the relationship between age and white matter hyperintensity load and to examine the mediating effect of white matter hyperintensities on cognition. Methods Demographic information, blood pressure, current medication lists, and Montreal Cognitive Assessment ...
Jade Hannan   +8 more
wiley   +1 more source

The 3rd anniversary of Frontiers in Virology: aiming to consolidate the virus research

open access: yesFrontiers in Virology
Akio Adachi   +2 more
doaj   +1 more source

Data‐driven forecasting of ship motions in waves using machine learning and dynamic mode decomposition

open access: yesInternational Journal of Adaptive Control and Signal Processing, EarlyView.
Summary Data‐driven forecasting of ship motions in waves is investigated through feedforward and recurrent neural networks as well as dynamic mode decomposition. The goal is to predict future ship motion variables based on past data collected on the field, using equation‐free approaches.
Matteo Diez   +2 more
wiley   +1 more source

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