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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations -
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature2024 Journal of Clinical Neuromuscular Disease article Neuroscience Hereditary Neurological Disorders
Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider, Angela Abicht, +7 more
0citations -
Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes2024 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders Open access
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara, Corinna Preuße, Andreas Laner, +7 more
10citations -
Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear Disorders2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access
Esther Fousert, Winnie M. C. van den Boogaard, Amy W. A. Lucassen, Shantha D. Udayappan, Jaap Oostrik, Peter Paul G. van Benthem, +5 more
0citations -
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study2021 Therapeutic Advances in Neurological Disorders article Neuroscience Hereditary Neurological Disorders Open access
Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kreß, Katja Eggermann, Barbara Namer, Franziska Gross, +7 more
71citations -
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts2023 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access
Andrea Cortese, Riccardo Curró, Riccardo Ronco, Julian C. Blake, Alexander Martin Rossor, Enrico Bugiardini, +10 more
12citations