Ulrike Schara-Schmidt

4PUBLICATIONS
72CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsOrganic chemical synthesisMiddle Eastern languages
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Publications (4)

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

|Sep 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Benedikt Becker, Isabell Cordts, Jutta Becker

|Feb 03, 2022
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.

Andrea Gangfuß, Andreas Hentschel, Nina Rademacher

|May 20, 2021
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Stacha F I Reumers, Frederik Braun, Jennifer E Spillane

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Frequent Collaborators

2 joint publications

Hanns Lochmüller

1 joint publications

Stacha F I Reumers

1 joint publications

Frederik Braun

1 joint publications

Jennifer E Spillane