Results 171 to 180 of about 208,085 (307)

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family. [PDF]

open access: yesHum Genome Var
Munir A   +12 more
europepmc   +1 more source

Icons, Iconicity, and Cultural Critique

open access: yesSociologica, 2015
Robert Hariman, John Louis Lucaites
openaire   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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

Identification of Leishmania spp. and Trypanosoma cruzi in bats captured in El Paso County, Texas. [PDF]

open access: yesPLoS Negl Trop Dis
Silva-Espinoza JC   +7 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han   +8 more
wiley   +1 more source

Extrapyramidal and anticholinergic reactions in an adolescent patient: a case for pharmacogenetic consideration. [PDF]

open access: yesBiochem Med (Zagreb)
Žunić Išasegi I   +7 more
europepmc   +1 more source

Icons [PDF]

open access: yes, 1994
Voss, Fred
core  

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

open access: yesAnnals 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

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