Work

TBCK syndrome: a rare multi-organ neurodegenerative disease

Year: 2023

Type: article

Source: Trends in Molecular Medicine

DOI: 10.1016/j.molmed.2023.06.009

Authors: Emily L. Durham, Rajesh Angireddy, Aaron Black, Ashley Melendez-Perez, Sarina Smith, Elizabeth M. Gonzalez, Kristen G. Navarro, Abdias Díaz, Elizabeth J.K. Bhoj, Kaitlin A. Katsura

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania, University of California, San Francisco

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of Neurological Disorders and Stroke

Award: Mechanism of disease in TBCK-related intellectual disability syndrome, a novel neurodegenerative disorder with mTOR dysfunction

OpenAlex ID: W4384297183

FWCI: 1.823

Cites: 13

Cited by: 11

Related to: 10