Severe white matter damage in SHANK3 deficiency: a human and translational study
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50959
Abstract: Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual… read more here.
Keywords: deficiency human; shank3 deficiency; severe white; matter damage ... See more keywords
The ATP Synthase Deficiency in Human Diseases
Sign Up to like & getrecommendations! Published in 2021 at "Life"
DOI: 10.3390/life11040325
Abstract: Human diseases range from gene-associated to gene-non-associated disorders, including age-related diseases, neurodegenerative, neuromuscular, cardiovascular, diabetic diseases, neurocognitive disorders and cancer. Mitochondria participate to the cascades of pathogenic events leading to the onset and progression of… read more here.
Keywords: atp synthase; deficiency human; human diseases; synthase deficiency ... See more keywords