Stephan Zuchner

21PUBLICATIONS
58CO-AUTHORS
Metabolic medicineMotor controlOral medicine and pathologyGene and molecular therapyNeurology and neuromuscular diseases
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Publications (21)

|Jul 23, 2026
Biallelic SCO2 Variants Presenting as Motor-Predominant Axonal Neuropathy With Complex IV Deficiency.

|Mar 10, 2025
FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus.

Adriana P Rebelo, Adel Alawwadh, Ali Hakami

|Feb 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Andrea Cortese, Maike F Dohrn, Riccardo Curro

|Jul 15, 2024
Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

Jessica Medina, Adriana Rebelo, Matt C Danzi

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

Danique Beijer, Maike F Dohrn, Adriana Rebelo

|Jun 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

David Pellerin, Giulia F Del Gobbo, Madeline Couse

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Frequent Collaborators

9 joint publications

Stephan Zuchner

6 joint publications

Maike F Dohrn

4 joint publications

Andrea Cortese

4 joint publications

Mary M Reilly