Results 181 to 190 of about 78,953 (285)

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy. [PDF]

Neuroimage Clin
Gaetz W, Saleh MG, Birnbaum C, Bloy L, Roberts TPL, Lynch DR.   +5 more
europepmc   +1 more source

Cell-type-specific profiling of alternative translation identifies regulated protein isoform variation in the mouse brain [PDF]

, 2019
Dalal, Jasbir S, Dougherty, Joseph D, Guise, Amanda, Kraft, Andrew W, Lake, Allison M, Lee, Jin-Moo, Sands, Mark S, Sapkota, Darshan, Steen, Judith A, Uncu, Ceren, Wesseling, Hendrik, Yang, Chengran, Yang, Wei   +12 more
core   +1 more source

Clinical Applications of Electrical Conductivity Imaging Using MRI

Journal of Magnetic Resonance Imaging, Volume 63, Issue 5, Page 1224-1245, May 2026.
ABSTRACT Magnetic resonance imaging (MRI) has emerged as a noninvasive technique for probing the electrical properties of biological tissues: electrical conductivity and relative permittivity. This review focuses on the electrical conductivity and provides a comprehensive overview of applications across both low‐ and high‐frequency regimes.
Stefano Mandija, Khin Khin Tha, Nitish Katoch, Cihan Göksu, Ulrich Katscher, Rosalind Sadleir, Kyu‐Jin Jung, Jierong Luo, Ilias I. Giannakopoulos, Dong‐Hyun Kim, Karin Shmueli, Riccardo Lattanzi, Yusuf Ziya Ider, Axel Thielscher, Cornelis van den Berg   +14 more
wiley   +1 more source

Case Report: Anti-SOX1 antibody-associated limbic encephalitis with hippocampal sclerosis: the first autopsy case. [PDF]

Front Immunol
Izumi R, Hayashi K, Kawahara E, Miki Y, Wakabayashi K, Suzuki A, Nakaya Y, Takaku N, Sato M, Horiuchi Y, Enomoto S, Kitazaki Y, Hamano T, Kobayashi Y.   +13 more
europepmc   +1 more source

Technical Review of Magnetic Resonance Fingerprinting Applications in Cerebral Physiology

Magnetic Resonance in Medicine, Volume 95, Issue 5, Page 2898-2918, May 2026.
ABSTRACT Magnetic resonance fingerprinting (MRF) enables quantitative MRI by allowing the simultaneous mapping of multiple tissue properties through innovative acquisition and computational methods. This review focuses on the application of MRF techniques to cerebral physiology, emphasizing advancements in vascular imaging and the integration of ...
Chieh‐Te Lin, Hanzhang Lu, Audrey P. Fan   +2 more
wiley   +1 more source

Immunometabolic Regulation of Neuroinflammation in Retinitis Pigmentosa: Roles of Microglia, Müller Glia, and Regulated Cell Death. [PDF]

Biomolecules
Yang Y, Zhou P, Deng Y, Peng Q.
europepmc   +1 more source

Enteric Nervous System Damage by Food Contaminants: A Pathway to Neurodegeneration?

Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 3, May 2026.
ABSTRACT The enteric nervous system (ENS), a key component of the gut–brain axis, has emerged as a critical player in the pathogenesis of Parkinson's disease (PD). It is the first neural system exposed to food contaminants (FCs)—a diverse group of ubiquitous toxic compounds fortuitously present in food derived from production, processing, storage, or ...
Helena Ramos, Ana Margarida Araújo, Isabel M. P. L. V. O. Ferreira, Miguel A. Faria   +3 more
wiley   +1 more source

The effect of age on wound healing in the laser induced choroidal neovascularization model. [PDF]

Exp Eye Res
Horrigan WF, Caron Q, Rodriguez A, Singh R, Anand-Apte B.   +4 more
europepmc   +1 more source

Alzheimer's disease and mixed pathologies as a hidden contributor to fatal hypothermia: A large‐scale forensic autopsy‐based study

Brain Pathology, Volume 36, Issue 3, May 2026.
We investigated neuropathological manifestations of hypothermia in 168 cases. Patients aged 65 years or more constituted 80% of the total cohort. Alzheimer's disease was the most common comorbidity, affecting 40% of all patients. Abstract There is a paucity of autopsy‐based studies providing detailed neuropathological characteristics of fatal ...
Shojiro Ichimata, Koji Yoshida, Ryo Tanaka   +2 more
wiley   +1 more source