Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Emergence of Band Structure in a Two-Dimensional Metal-Organic Framework upon Hierarchical Self-Assembly. [PDF]
Baranowski D +13 more
europepmc +1 more source
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Band structure engineering, optical, transport, and photocatalytic properties of pristine and doped Nb3O7(OH): a systematic DFT study. [PDF]
Khan W +5 more
europepmc +1 more source
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +1 more source
Probing the tunable multi-cone band structure in Bernal bilayer graphene. [PDF]
Seiler AM +9 more
europepmc +1 more source
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
Observation of time-reversal symmetry breaking in the band structure of altermagnetic RuO2. [PDF]
Fedchenko O +23 more
europepmc +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
Higher order gaps in the renormalized band structure of doubly aligned hBN/bilayer graphene moiré superlattice. [PDF]
Jat MK +9 more
europepmc +1 more source

