Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review DOI Open Access
Fabio Sirchia, Ivan Taietti,

Myriam Donesana

и другие.

Genes, Год журнала: 2024, Номер 15(9), С. 1219 - 1219

Опубликована: Сен. 18, 2024

Developmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the

Язык: Английский

V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities DOI Creative Commons
Antonio Falace, Greta Volpedo, Marcello Scala

и другие.

Cells, Год журнала: 2024, Номер 13(17), С. 1441 - 1441

Опубликована: Авг. 28, 2024

Vacuolar-type ATPase (v-ATPase) is a multimeric protein complex that regulates H

Язык: Английский

Процитировано

4
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review DOI Open Access
Fabio Sirchia, Ivan Taietti,

Myriam Donesana

и другие.

Genes, Год журнала: 2024, Номер 15(9), С. 1219 - 1219

Опубликована: Сен. 18, 2024

Developmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the

Язык: Английский

Процитировано

0