Aspartate-Glutamate Carrier 1 (<i>SLC25A12</i>) Deficiency: Malate-Aspartate Shuttle Failure, Neurodevelopmental Epileptic Encephalopathy, and Ketone-Based Metabolic Therapy. [PDF]
Murano M +6 more
europepmc +1 more source
Early Myelination Supports the Establishment of Consistent Handedness
Early compact myelin is essential for the establishment but not the maintenance of consistent paw preference in mice. Congenital myelin absence reduces lateralization and creates a leftward bias, underscoring a developmental role in shaping brain asymmetries. ABSTRACT Lateralization of brain functions, such as handedness, is thought to enhance cortical
Sharlen Moore +7 more
wiley +1 more source
A Comparison of the Effects of Vitamin B12 and Folic Acid on Gait Recovery and Myelination After Femoral Nerve Injury in Rats. [PDF]
Basailović M +5 more
europepmc +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
The RhoG-Binding Domain of ELMO1 Rescues the PTENopathy-like Phenotype in Oligodendroglial FBD-102b Cells. [PDF]
Takahashi M +4 more
europepmc +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Multimodal MRI of white matter development and selective motor control in preterm infants. [PDF]
Drobyshevsky A +5 more
europepmc +1 more source
ABSTRACT Purpose Axon fiber orientation‐dependent R1 relaxation in human white matter (WM) in vivo at B0 = 1.5 T, 3 T, and 7 T was studied within the framework of the transient hydrogen bond (THB) model, which attributes MR signal relaxation to quantum magnetization interactions of water and motion‐restricted protons in hydrophilic heads of lipid ...
Dmitriy A. Yablonskiy +10 more
wiley +1 more source
Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]
Chanvanichtrakool M +5 more
europepmc +1 more source
STAIR‐UTE, STAIR‐STE, and MT‐derived myelin biomarkers (MPF, MWF, MMF, MTR) strongly correlate in WM, gray matter, and MS lesions. All distinguish normal from abnormal tissue, though subtle differences suggest complementary information. Histological validation is needed to confirm specificity.
James Lo +7 more
wiley +1 more source

