Results 281 to 290 of about 5,500,695 (406)

Mummies tell stories: CT investigation of eight members of the Kėdainiai elite (Grand Duchy of Lithuania, 17th-18th centuries AD). [PDF]

open access: yesFront Med (Lausanne)
Piombino-Mascali D   +5 more
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals 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

LINC00323 variant is associated with increased risk of essential tremor

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan   +11 more
wiley   +1 more source

Clinical manifestations of children and adolescents with anxiety disorders with and without specific learning disorders. [PDF]

open access: yesAnn Gen Psychiatry
Lazzaro G   +5 more
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier   +20 more
wiley   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki   +5 more
wiley   +1 more source

Current Phenomenon of Self-Harm in Children and Adolescents. [PDF]

open access: yesJ Korean Acad Child Adolesc Psychiatry
Adhilah N, Setiawati Y.
europepmc   +1 more source

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