Results 151 to 160 of about 98,650 (241)

A 21-Year Diagnostic Odyssey in TBC1D24-Associated Developmental and Epileptic Encephalopathy With Favorable Response to Corpus Callosotomy: A Case Report. [PDF]

Cureus
Pacheco-Abbud A, Pérez-Arzola AA, Martínez Torres AS, Fernández-Garza LE, Rojas VG, Arbeu-Reyes M, Juárez-Melchor D, López-Quecho J, Crisanto-López IE.   +8 more
europepmc   +1 more source

A live‐cell autophagy reporter reveals reversible vacuolation in naked mole‐rat skin fibroblasts under lysosomal stress

The FEBS Journal, EarlyView.
A tandem fluorescent mCherry–EGFP–LC3 reporter enables live‐cell visualisation of autophagy–lysosome dynamics in naked mole‐rat skin fibroblasts. Chloroquine‐induced lysosomal stress promotes accumulation of neutral LC3‐positive compartments and triggers pronounced LC3‐associated vacuolation.
Fangze Tong, Mateo P. Hoare, Laura J. Grundy, Filomena Gallo, Karin H. Müller, Ewan St. John Smith, Janet R. Kumita   +6 more
wiley   +1 more source

Diagnostic odyssey and healthcare access challenges in Rett Syndrome: perspectives from Brazilian families. [PDF]

Rev Paul Pediatr
Santana GAS, Sousa LJ, Silva MJS, Dias NDM, Laguna GGC, Fernandes LA, Marques CR, Oliveira PDS.   +7 more
europepmc   +1 more source

Enhancing the Evidence for Care in Underserved Bleeding Disorders Communities

Haemophilia, EarlyView.
ABSTRACT Background Major advances in haemophilia care have not translated equitably across all populations. Individuals with rare bleeding disorders (RBDs), people living in low‐ and lower‐middle‐income countries (LMICs) and women and girls with inherited bleeding disorders (WGWBD) continue to face significant diagnostic, therapeutic and research ...
Johnny Mahlangu
wiley   +1 more source

The effect of PCSK9 inhibitors on cardiovascular outcomes in diabetic patients: a narrative review. [PDF]

Front Pharmacol
Khalid Sharafeldin AB, Aljundi NET, Hussain A, Alaraibi AJ, Butler AE.   +4 more
europepmc   +1 more source

Reading and relating with Frieda Fromm‐Reichmann and Joanne Greenberg

Critical Quarterly, EarlyView.
Joshua Pugh
wiley   +1 more source

Hypercapnia Induces Mitochondrial Adaptations and Alters Glutamine Metabolism to Drive a Distinct Metabolic Phenotype in Monocytes

Immunology &Cell Biology, EarlyView.
Elevated CO2 (hypercapnia) is a feature of serious lung diseases, for example COPD and contributes to poor patient prognosis through modulation of immune cell function. Here we employ state‐of‐the art metabolomic and isotope tracing approaches to reveal CO2‐dependent mitochondrial alterations linked to suppressed ATP, proline and glutamate levels in ...
Ben Reddan, David E. Phelan, Xiaofei Yin, Lorraine Brennan, Martina Wallace, Eoin P. Cummins   +5 more
wiley   +1 more source

Mavacamten in Hypertrophic Cardiomyopathy: Getting Safety Right When the Buffer Is Small. [PDF]

JACC Asia
Zheng H.
europepmc   +1 more source

Gesturing While Writing: An Alternate Perspective on Mimetic Prosody

Critical Quarterly, EarlyView.
Paul Magee
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source