Results 181 to 190 of about 89,450 (348)
Age-related changes of apoptotic cell death in human lymphocytes [PDF]
, 2006 Apoptosis seems to be involved in immunosenescence associated with aging. Moreover, in lymphocytes (PBL) of patients with Alzheimer's disease, an increased susceptibility to the apoptotic pathway has been described possibly due to impaired protection of ...
Eckert, Anne +3 more
core
Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT NGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular
Aviv Mesika +8 more
wiley +1 more source
Annals of Indian Academy of Neurology, 2007 Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults.
Pandit Lekha +3 more
doaj
Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis. [PDF]
, 1989 Lakshmi Mehta, I J Lewis, M A Patton
openalex +1 more source
JIMD Reports, Volume 66, Issue 4, July 2025.ABSTRACT Three clinical entities of multiple acyl‐CoA dehydrogenase deficiency (MADD, OMIM#231680) can be differentiated: two severe neonatal forms and one later‐onset form that can manifest in adulthood. The latter typically presents with muscle‐related symptoms, such as exercise intolerance and muscle weakness, with an increase in all chain‐length ...
Romain Penicaud +8 more
wiley +1 more source
THE INTERRELATION OF STASIS, PTOSIS AND INERTIA OF THE INTESTINAL TRACT
, 1918 J. CHRISTOPHER OʼDAY
openalex +2 more sources
JIMD Reports, Volume 66, Issue 4, July 2025.ABSTRACT Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA‐related PMD in patients with African heritage, even in well‐studied populations.
Surita Meldau +9 more
wiley +1 more source