Results 131 to 140 of about 543,139 (298)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva +18 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li +3 more
wiley +1 more source
A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant
Animal Models and Experimental Medicine, EarlyView.Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund +7 more
wiley +1 more source
Familial Recurrent Cranial Nerve Palsy
, 1991 We report three patients, that span two generations of one family, who experienced recurrent cranial nervepalsies. Four episodes of facial nerve and three episodes of abducens nerve palsy occurred.
Karl C. Golnik, MD; Neil R Miller, MD
core
Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System
Annals of Neurology, EarlyView.Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti +17 more
wiley +1 more source
Piezoelectric Nanocomposite Hydrogel for Wireless Neural Stimulation and Tissue Augmentation
Advanced NanoBiomed Research, EarlyView.A cell/tissue supporting piezoelectric hydrogel system (PZ‐gel) that incorporates ferroelectric, pyroelectric, and piezoelectric ceramic material barium titanate into an alginate/carboxymethyl chitosan hydrogel. The PZ‐gel can be sonoactivated for wireless neural cell and tissue stimulation, with the potential to be used as a stimulatory cell substrate
Mohammad Mohammadi +3 more
wiley +1 more source