Work

Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation

Year: 2022

Type: article

Study design: Case Report

Source: Parkinsonism & Related Disorders

DOI: 10.1016/j.parkreldis.2022.10.022

Authors: Ignacio J. Keller Sarmiento, Avram Fraint, Lisa Kinsley, Rizwan S. Akhtar, Vincenzo Silani, Steven J. Lubbe, Dimitri Krainc, Niccolò E. Mencacci

Institutions: Northwestern University, University of Milan, IRCCS Istituto Auxologico Italiano

Language: English

Topic: Neurological disorders and treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4307042001

FWCI:

Cites: 5

Cited by:

Related to: 10