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Papers matching “next-generation sequencing” 8

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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
2023 The Cerebellum article Neuroscience Genetic Neurodegenerative Diseases Open access

Danique Beijer, Brent L. Fogel, Sergi Beltrán, Matt Christopher Danzi, Andrea Hilary Nemeth, Stephan Züchner, +30 more

13

citations
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
2024 Genes article Neuroscience Hereditary Neurological Disorders Open access

Cansu de Muijnck, Jacoline B. ten Brink, Hugoline G. de Haan, Richard J. Rodenburg, Nicole I. Wolf, Arthur A B Bergen, +2 more

7

citations
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
2026 Nature Communications article Neuroscience Hereditary Neurological Disorders Open access

Benita Menden, Rana Dilara Incebacak Eltemur, German M. Demidov, Marc Sturm, Joohyun Park, Chrisovalantou Huridou, +94 more

3

citations
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39
2022 Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Sebastian Viertauer, Ingo Kurth, Katja Eggermann, Christian Eggers

3

citations
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
2025 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

2

citations
Hereditary Sensory and Autonomic Neuropathy
2022 Neurology India article Neuroscience Hereditary Neurological Disorders

Renu Suthar, Indar Kumar Sharawat, Katja Eggermann, Hansashree Padmanabha, Arushi Gahlot Saini, Bhavneet Bharti, +3 more

12

citations
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature
2024 Journal of Clinical Neuromuscular Disease article Neuroscience Hereditary Neurological Disorders

Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider, Angela Abicht, +7 more

0

citations
Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies
2025 Neurology Genetics article Neuroscience Hereditary Neurological Disorders Open access

Barbara W. van Paassen, Camiel Verhamme, Fred van Ruissen, Martin A. Haagmans, Marcel G. W. Dijkgraaf, Marianne de Visser, +3 more

0

citations

8 results