Results 281 to 290 of about 249,320 (341)

Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Mary Chesshyre   +176 more
wiley   +1 more source

Preferential superficial cortical layer activation during seizure propagation

open access: yesEpilepsia, Volume 66, Issue 3, Page 929-941, March 2025.
Abstract Objective Focal cortical seizures travel long distances from the onset zone, but the long‐distance propagation pathways are uncertain. In vitro and in vivo imaging techniques have investigated the local spread of seizures but did not elucidate long‐distance spread. Furthermore, classical studies in slices suggested seizure spread locally along
Anastasia Brodovskaya   +4 more
wiley   +1 more source

Untranslated Region Sequences and the Efficacy of mRNA Vaccines against Tuberculosis. [PDF]

open access: yesInt J Mol Sci
Reshetnikov V   +17 more
europepmc   +1 more source

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

open access: yes, 2023
Martin-Geary AC   +21 more
europepmc   +1 more source

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison   +10 more
wiley   +1 more source

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