Stephan Zuchner

33PUBLICATIONS

196CO-AUTHORS

Neurology and neuromuscular diseasesGene mappingGene expression (incl. microarray and other genome-wide approaches)Sensory systemsCraniofacial biology

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Publications (33)

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|Jun 22, 2026

Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathy.

|Feb 14, 2026

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

|Feb 05, 2026

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Luca Schierbaum, Enrique Gonzalez Saez-Diez, Amy Tam

|Feb 03, 2026

Expanding the Genetic Landscape of Congenital Insensitivity to Pain.

Theeraphong Pho-Iam, Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul

|Jan 07, 2026

Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variants.

Christopher J Record, Tiffany Grider, Adriana P Rebelo

|Nov 08, 2025

Charcot-Marie-Tooth-SORD: insights into pathology and pathophysiology from a human nerve biopsy series.

Maike F Dohrn, Davide Pareyson, Chiara Pisciotta

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Frequent Collaborators

Adriana Rebelo

Henry Houlden

Maike F Dohrn

Andrea Cortese

Mary M Reilly

Danique Beijer

Matt C Danzi

Bernard Brais

Matthis Synofzik

Catherine Ashton

Frequent Collaborators

Adriana Rebelo

Henry Houlden

Maike F Dohrn

Andrea Cortese