Results 211 to 220 of about 5,188,381 (253)

Altered static and dynamic regional homogeneity in basal ganglia-thalamocortical circuits and their association with neuropsychiatric manifestations in Wilson's disease. [PDF]

Front Neurosci
Zhou Z, Xiao W, Yang N, Lin W, Chen Z, Liang M, Li J, Wu Y.   +7 more
europepmc   +1 more source

Recent Advances in Top‐Down Proteomics for Single‐Cell Research

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Individual cells have distinctive molecular characteristics, including biologically relevant proteoforms. Although single‐cell (SC) molecular omics offer unprecedented insights into cellular heterogeneity and function, the characterization of proteoforms in SCs remains an uncharted territory.
Jake A. Melby, Pei Su, Fabio P. Gomes
wiley   +1 more source

Hepatic nodular ultrasound appearance in Wilson's disease: association with ultrasound-derived fat fraction but not fibrosis markers. [PDF]

Quant Imaging Med Surg
Li B, Wang J, Jin F, Ni J, Li Y.
europepmc   +1 more source

Proteoforms in Disease: Biomedical Applications of Top‐Down Proteomics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The proteome is a dynamic landscape of proteoforms arising from genetic mutations, alternative splicing, and post‐translational modifications (PTMs), which collectively drive biological function and disease phenotypes. Mass spectrometry (MS)‐based proteomics has emerged as an essential technique for elucidating this molecular complexity ...
Holden T. Rogers, Zachery R. Gregorich, Megan S. Gant, Zhan Gao, Julia Chamot‐Rooke, Ying Ge   +5 more
wiley   +1 more source

Progressive Supranuclear Palsy or Something More? Unveiling Late-Onset Wilson's Disease. [PDF]

Ann Indian Acad Neurol
Saibaba J, Gomathy SB, Sugumaran R, Narayan SK.   +3 more
europepmc   +1 more source

Keeping It Native: Non‐Denaturing Approaches to Top‐Down Protein Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Top‐down proteomics and top‐down mass spectrometry approaches provide direct characterization of proteoforms; the specific molecular forms of proteins, including post‐translational modifications, truncations, alternative splicing, and sequence variants.
Michael Xiao, Edvaldo Vasconcelos Soares Maciel, Frederik Lermyte, Owen S. Skinner   +3 more
wiley   +1 more source

Re-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review. [PDF]

Cureus
Hummel L, Carr C, Biow S, Asher K, Sauer T, Maylin M.   +5 more
europepmc   +1 more source

Breathe, Eat, Talk: Three Essential Ingredients to Quality‐of‐Life Outcomes in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Breathing, eating, and talking (BET) impairments are common yet frequently underrecognized features of movement disorders. Deficits in respiration, swallowing, voice, and speech may emerge early in the course of a disease, adversely affecting safety, participation, and quality of life.
John Dean, Lena C. O’Flynn, Michelle Ciucci, Cynthia Fox, Jessica E. Huber, Supraja Anand, Maira Rozenfeld Olchik, Jibrin S. Usman, Adam P. Vogel, Bettina Aguiar, Diana Khasanova, Dharshini Manoharan, Lorraine Ramig, Angela Roberts, Federico Rodriguez‐Porcel, Kristina Simonyan, Julie M. Barkmeier‐Kraemer   +16 more
wiley   +1 more source

Wilson's Disease with Autoimmune Hepatitis Manifestation in a Pediatric Patient: A Case Report and Literature Review. [PDF]

J Clin Med
Gimiga N, Păduraru G, Bozomitu LI, Ghiga G, Pânzaru MC, Butnariu LI, Scurtu AM, Cojocaru E, Lupu VV, Trandafir LM.   +9 more
europepmc   +1 more source

Altered Sleep Patterns in Wilson's Disease Including Shortened REM Latency. [PDF]

Diagnostics (Basel)
Bembenek JP, Litwin T, Antos A, Jernajczyk W.   +3 more
europepmc   +1 more source