Work

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)

Year: 2022

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2022.07.009

Authors: Francesco Gavazzi, Samuel R. Pierce, Joseph Vithayathil, Kristin Cunningham, Kim Anderson, Jacob McCann, Ashley Moll, Kayla Muirhead, Omar Sherbini, Erin Prange, Holly Dubbs, Laura Tochen, Jamie Fraser, Ingo Helbig, Naomi Lewin, Nivedita Thakur, Laura A. Adang

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

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: The Intellectual and Developmental Disabilities Research Center at CHOP/Penn, Joint analysis of genomic and electronic medical record data to assess outcomes and drug response in pediatric epilepsies, Remapping Clinical Neuroscience through Translation and Innovation Training (ReCoNnecT-IT), Channelopathy-Associated Epilepsy Research Center, Clinical measures in Aicardi Goutieres Syndrome, Institutional Clinical and Translational Science Award, ClinGen Expert Curation Panel for the Epilepsies, Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)

OpenAlex ID: W4286252647

FWCI: 0.967

Cites: 29

Cited by: 15

Related to: 10