Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Full-length 16S rRNA nanopore sequencing enables species resolution of <i>Fusobacterium</i> associated with colorectal cancer. [PDF]
Gut MicrobesRosenbaum W +6 more
europepmc +1 more source
Reuzenvlokreeft - Dikerogammarus villosus. Niet-inheemse soorten van het Belgisch deel van de Noordzee en aanpalende estuaria [PDF]
, 2011 VLIZ Alien Species Consortium
core
Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov +2 more
wiley +1 more source
The mosquitoes (Diptera: Culicidae) of Tunisia: updated checklist and new distribution data. [PDF]
ParasiteOuni A +4 more
europepmc +1 more source
Tijgervlokreeft - Gammarus tigrinus. Niet-inheemse soorten van het Belgisch deel van de Noordzee en aanpalende estuaria [PDF]
, 2011 VLIZ Alien Species Consortium
core
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
Analysis of Plant Diversity and Importance Value Index in Central Ethiopian Agroforestry Systems. [PDF]
Scientifica (Cairo)Moges A.
europepmc +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