Work

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Year: 2003

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/367847

Authors: Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer-Grumbach, Jennifer M. Kwon, David FitzPatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans-Peter Hartung, Vincent Timmerman

Institutions: University of Antwerp, Antwerp University Hospital, University of Graz, Washington University in St. Louis, Western General Hospital, Universitair Ziekenhuis Brussel, Heinrich Heine University Düsseldorf

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: bronze

Funders: Muscular Dystrophy Association, Austrian Science Fund, Fonds Wetenschappelijk Onderzoek, Universiteit Antwerpen, Vlaamse regering

Awards: Hereditary motor and sensory neuropathies (HMNS = Charcot-Marie-Tooth syndrom = CMT) and related neuropathies: Linkage analysis and gene identification in ulcero-mutilating neuropathies, Hereditary spastic paraparesis in Austria

OpenAlex ID: W2102400397

FWCI: 9.316

Cites: 24

Cited by: 464

Related to: 9