Christopher J Record

19PUBLICATIONS
133CO-AUTHORS
Craniofacial biologyNeurology and neuromuscular diseasesMedical biotechnology diagnostics (incl. biosensors)Medical molecular engineering of nucleic acids and proteinsGene expression (incl. microarray and other genome-wide approaches)
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Publications (19)

|Jan 07, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Christopher J Record, Tiffany Grider, Adriana P Rebelo

|Sep 10, 2025
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Manoella Guerra de Albuquerque Bueno

|Nov 15, 2024
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J Record

|Oct 24, 2024
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Christopher J Record, Antoinette O'Connor, Nienke E Verbeek

|Jun 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Danique Beijer, Maike F Dohrn, Adriana Rebelo

|Apr 12, 2024
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination.

Paula Ayuso-García, Alejandro Sánchez-Rueda, Sergio Velasco-Avilés

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Frequent Collaborators

14 joint publications

Mary M Reilly

5 joint publications

Matilde Laura

4 joint publications

Menelaos Pipis

4 joint publications

Pedro José Tomaselli