Work

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Year: 2021

Type: article

Study design: Observational Study

Source: Journal of Child Neurology

DOI: 10.1177/08830738211000977

Authors: Francesco Gavazzi, Brittany A. Charsar, Catherine Williams, Justine Shults, Cesar A. Alves, Laura Adang, Adeline Vanderver

Institutions: Children's Hospital of Philadelphia, University of Brescia, Thomas Jefferson University, University of Pennsylvania

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: closed

Funder: National Institute of Neurological Disorders and Stroke

Awards: Analysis of DARS2 in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) Patient Neurons, Clinical measures in Aicardi Goutieres Syndrome, Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)

OpenAlex ID: W4235065692

FWCI: 0.565

Cites: 18

Cited by: 10

Related to: 10