Results 281 to 290 of about 11,237,134 (403)

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

Very High‐Frequency Oscillations in Mesial Temporal Lobe Epilepsy: Identifying the Epileptogenic Zone

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the reliability of very high‐frequency oscillations (VHFOs, 500–2000 Hz) as biomarkers in identifying the epileptogenic zone (EZ) in mesial temporal lobe epilepsy (MTLE) patients. Methods We reviewed 19 MTLE patients who underwent stereo‐electroencephalography‐guided radiofrequency thermocoagulation.
Stéphane Jean   +10 more
wiley   +1 more source

Information Dissemination in Random Networks

open access: yes, 2012
Die vorliegende Dissertation beschäftigt sich mit der Dissemination von Information in einem Kommunikationsnetzwerk mit Broadcast-Kanal. Die zentrale Frage, welcher wir uns in dieser Arbeit widmen, ist wie man eine Nachricht ausgehend von einem Quellknoten effizient an alle anderen Knoten im Netzwerk verteilt. Hierbei verfolgen wir zwei Hauptziele: (1)
openaire   +2 more sources

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu   +12 more
wiley   +1 more source

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano   +15 more
wiley   +1 more source

“It's Just Good Science”: A Qualitative Study Exploring Equity, Diversity, and Inclusion in Canadian Arthritis Research

open access: yesArthritis Care &Research, EarlyView.
Objective Despite knowledge that health outcomes vary according to patient characteristics, identity, and geography, including underrepresented populations in arthritis research remains a challenge. We conducted interviews to explore how researchers in arthritis have used equity, diversity, and inclusion (EDI) principles to inform their research ...
Megan M. Thomas   +8 more
wiley   +1 more source

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