Results 251 to 260 of about 556,889 (346)

Ultrastructure of astrocytes using volume electron microscopy: A scoping review

The Journal of Physiology, EarlyView.
Abstract figure legend A complete overview on astrocyte ultrastructure with volume electron microscopy. The morphology of astrocytes under physiological and pathological conditions plays a role in brain homeostasis, synaptic activity and structural support, but their morphological complexity and heterogeneity are still poorly quantified.
Vanessa Chiappini, Maria Fernanda Veloz Castillo, Francesco Biancardi, Ferdinando Di Cunto, Pierre J. Magistretti, Alessandro Vercelli, Marco Agus, Corrado Calì   +7 more
wiley   +1 more source

Efficacy of magnetic resonance imaging in managing glycogen storage disease. [PDF]

Orphanet J Rare Dis
Ahn JH, Jeong YW, Choi YB, Kang Y.
europepmc   +1 more source

Natural history of hepatocellular adenoma formation in glycogen storage disease type I. [PDF]

J Pediatr, 2011
Wang DQ, Fiske LM, Carreras CT, Weinstein DA.   +3 more
europepmc   +1 more source

Placental mitochondrial metabolic adaptation maintains cellular energy balance in pregnancy complicated by gestational hypoxia

The Journal of Physiology, EarlyView.
Abstract figure legend Placental mitochondrial adaptation to gestational hypoxia. Hypoxic pregnancy in sheep increases placental insulin like growth factor 2 (IGF2) signalling (1), which is associated with a shift in capacity away from β‐oxidation (2) and complex I‐mediated respiration (3), while maintaining total oxidative phosphorylation capacity (4).
Wen Tong, Beth J. Allison, Kirsty L. Brain, Olga V. Patey, Youguo Niu, Kimberley J. Botting, Sage G. Ford, Tess A. Garrud, Peter F. B. Wooding, Qiang Lyu, Lin Zhang, Jin Ma, Alice P. Sowton, Katie A. O'Brien, Tereza Cindrova‐Davies, Hong Wa Yung, Graham J. Burton, Andrew J. Murray, Dino A. Giussani   +18 more
wiley   +1 more source

Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

BMC Med Genomics
Kasmi Z, Ain El Hayat I, Aadam Z, Errami A, Benhsaien I, El Bakkouri J, Ben Sabbahia D, Atrassi M, Bousfiha AA, Ailal F.   +9 more
europepmc   +1 more source

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]

, 2016
et al,, Pestronk, Alan
core   +1 more source

The link between sarcopenic obesity and Alzheimer's disease: a brain‐derived neurotrophic factor point of view

The Journal of Physiology, EarlyView.
Abstract figure legend A, Sarcopenic obesity is defined as the age‐related loss of skeletal muscle mass and function that often leads to the progression of comorbidities, such as Alzheimer's disease (AD). Though the exact link between the two diseases is unknown, alterations in brain‐derived neurotrophic factor (BDNF) may be a contributor.
Emily N. Copeland, Paul J. LeBlanc, Paula Duarte‐Guterman, Val A. Fajardo, Rebecca E. K. MacPherson   +4 more
wiley   +1 more source

Camptocormia as a feature of Mc Ardle's disease: A case report. [PDF]

Mol Genet Metab Rep
Nicolas M, Giret C, Pellieux S, Toutain A, Bergemer-Fouquet AM, Laforêt P, Bouilleau L, Maillot F.   +7 more
europepmc   +1 more source

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller, Emily Brown, Susan Christian, Melissa A. Kelly, Linda M. Knight, Sara Saberi, Christina Rigelsky, Jodie Ingles   +7 more
wiley   +1 more source

Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses. [PDF]

J Vet Intern Med
Aleman M, McCue M, Bellone RR.
europepmc   +1 more source