BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
A human hair keratin biomaterial hydrogel scaffold was evaluated as a nerve conduit luminal filler following median nerve transection injury in 10 Macaca fascicularis nonhuman primates (NHP). A 1 cm nerve gap was grafted with a NeuraGen® collagen conduit
Lauren A. Pace+7 more
semanticscholar +1 more source
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang+11 more
wiley +1 more source
Electrophysiologic research of surgically restored median nerve (experimental study).
In the experiment the possibility of providing effective regeneration of the injured median nerve in conditions of creation “protected” suture with intact ulnar nerve was studied.
N. O. Borzykh+2 more
doaj +1 more source
Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu+13 more
wiley +1 more source
Ancient schwannoma involving the median nerve: a case report and review of the literature
Ancient schwannomas are benign long standing schwannomas of the neural sheaths. Histological findings are these seen as in conventional schwannomas, but ancient schwannomas additionally demonstrate cystic hemorrhagic changes and degenerative nuclei with ...
K. Malizos+2 more
semanticscholar +1 more source
Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova+5 more
wiley +1 more source
Long-term surgical outcome of median nerve injuries
Background: Median nerve integrity is a prerequisite of normal hand function. The median nerve is a frequently injured nerve, and recent evidence indicates that nerve surgery may produce acceptable outcomes. The present study provides a framework of long-
Mohammadreza Emamhadi+2 more
doaj +1 more source
A Case of Recurrent Spontaneous Gangrene of the Index Finger: Successive Amputations of the Phalanges: Abatement of the Process after Excision of a Portion of the Radial Nerve and Stretching of the Median [PDF]
E. A. CODMAN
openalex +1 more source
Case of Paralysis of the Median Nerve [PDF]
n ...
openaire +3 more sources