Work

Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex

Year: 2020

Type: article

Study design: Case Report

Source: European Journal of Neurology

DOI: 10.1111/ene.14512

Authors: V. Lupo, S. Won, M. Frasquet, M. S. Schnitzler, S. S. Komath, S. I. Pascual‐Pascual, C. Espinós, J. Svaren, T. Sevilla

Institutions: Centro de Investigacion Principe Felipe, Instituto de Investigación Sanitaria La Fe, University of Wisconsin–Madison, Hospital Universitari i Politècnic La Fe, Jawaharlal Nehru University, Hospital Universitario La Paz, Universitat de València, Centre for Biomedical Network Research on Rare Diseases

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Generalitat Valenciana, Instituto de Salud Carlos III, National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1405886447, Waisman Intellectual and Developmental Disabilities Research Center, Caracterización de nuevos genes y biomarcadores proteicos para avanzar en el diagnóstico, prognosis y terapia de la neuropatía axonal hereditaria (CMT2), Neuropatías hereditarias en infancia y adolescencia: diagnóstico genético y determinantes de calidad de vida., G7888506412, Regulation of PMP22 Expression in Peripheral Nerve, Waisman Center Intellectual and Developmental Disabilities Research Center

OpenAlex ID: W3084014201

FWCI: 0.115

Cites: 23

Cited by: 7

Related to: 10