Author

Christopher J. Record

UCL Queen Square Institute of NeurologyORCID 0000-0002-9802-2683Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Mary M. ReillyiD· 2 shared Reza MaroofianiD· 2 shared Rita HorváthiD· 2 shared Serdal GüngöriD· 2 shared Tobias B. HaackiD· 2 shared A. Nazlı BaşakiD· 1 shared Abigail D. WilsoniD· 1 shared Adam JacksoniD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mary M. ReillyORCID

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2 papers

Recent·Most cited

Genetic Risk of Axonal Neuropathy Following Infection

J. Robert Harkness, John Henry McDermott, Shea Marsden, Peter Jamieson, Kay Metcalfe, Naz Khan, William L. Macken, Robert D. S. Pitceathly, Christopher J. Record, Reza Maroofian, Kloepa Kloepas, Ataf Hussain Sabir, Lily Islam, Saikat Santra, Enise Avcı Durmuşalioğlu, , William G. Newman

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

medRxiv · Oct 4, 2024 · PreprintGenetic & Genomic Medicine

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Lin, J. Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Curró, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, , Henry Houlden

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

medRxiv · May 10, 2024 · PreprintGenetic & Genomic Medicine