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)

|Jun 22, 2026
Convergent human genetic evidence implicates serine biosynthesis in 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 SLC12A6 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

9 joint publications

Adriana Rebelo

7 joint publications

Henry Houlden

6 joint publications

Maike F Dohrn

5 joint publications

Andrea Cortese