Results 91 to 100 of about 10,970 (177)
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Encoding and Retrieval Interference in Sentence Comprehension: Evidence from Agreement. [PDF]
Villata S, Tabor W, Franck J.
europepmc +1 more source
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Task-dependency and structure-dependency in number interference effects in sentence comprehension. [PDF]
Franck J, Colonna S, Rizzi L.
europepmc +1 more source
Hensel minimality: Geometric criteria for $\ell$-h-minimality [PDF]
Recently, Cluckers, Halupczok and Rideau-Kikuchi developed a new axiomatic framework for tame non-Archimedean geometry, called Hensel minimality. It was extended to mixed characteristic together with the author.
Vermeulen, Floris
core
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Syntactic Complexity Effects of Russian Relative Clause Sentences in Children with and without Developmental Language Disorder. [PDF]
Rakhlin N +3 more
europepmc +1 more source
The Relativized Minimality approach to comprehension of German relative clauses in aphasia
It is a well-attested finding in head-initial languages that individuals with aphasia (IWA) have greater difficulties in comprehending object-extracted relative clauses (ORCs) as compared to subject-extracted relative clauses (SRCs).
Adelt, Anne
core +1 more source

