Results 221 to 230 of about 4,987,614 (290)
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
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 +21 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
[Clinical death. Legal death; somatic death; complete death].
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, 1973 openaire +1 more source
[Ascertainment of death: a certain death and ascertained death].
Pathologica, 2003 E, Fulcheri, R, Grilletto
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A guide to cell death pathways
Nature Reviews Molecular Cell Biology, 2023Dimitry Ofengeim, Junying Yuan
exaly +2 more sources
ACM SIGGRAPH 2011 Computer Animation Festival, 2011
Amnesty International has produced great promotional campaigns for many years. So when we were asked to work with Pleix on a new Amnesty ad, we knew the project would be significant and demanding.And we weren't mistaken.The creative brief was quite simple: human-scale wax sculptures that melt.
openaire +2 more sources
Amnesty International has produced great promotional campaigns for many years. So when we were asked to work with Pleix on a new Amnesty ad, we knew the project would be significant and demanding.And we weren't mistaken.The creative brief was quite simple: human-scale wax sculptures that melt.
openaire +2 more sources
2004
We draw attention to differences and difficulties in language and in concepts between “brain death” and true death that was published 24 years ago.1 We also focus on failure to utilize the scientific method, sound reasoning, and available medical technology in the determination of one of the two most important states known to man: death.
Paul A, Byrne, Walt F, Weaver
openaire +2 more sources
We draw attention to differences and difficulties in language and in concepts between “brain death” and true death that was published 24 years ago.1 We also focus on failure to utilize the scientific method, sound reasoning, and available medical technology in the determination of one of the two most important states known to man: death.
Paul A, Byrne, Walt F, Weaver
openaire +2 more sources