Work

Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22‐p24 HSN1B Locus

Year: 2025

Type: article

Source: Journal of the Peripheral Nervous System

DOI: 10.1111/jns.70070

Authors: Bianca R. Grosz, Melina Ellis, Shuchi Trivedi, Carolin Scriba, Marion Stoll, Danqing Zhu, Sanjog R. Chintalaphani, Igor Stevanovski, Andrea Cortese, Penelope J. Spring, Nigel G. Laing, Ira W. Deveson, Mary M. Reilly, Garth A. Nicholson, Kishore R. Kumar, Steve Vucic, Marina L. Kennerson

Institutions: The University of Sydney, Sydney Local Health District, Anzac Research Institute, Queensland University of Technology, The University of Western Australia, Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Concord Repatriation General Hospital, NSW Health Pathology, Garvan Institute of Medical Research, Murdoch Children's Research Institute, UCL Queen Square Institute of Neurology, University College London, UNSW Sydney

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

OpenAlex ID: W4415139449

FWCI:

Cites: 33

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