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Papers matching “variant interpretation” 11

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Functional impact of the TRPA1 H560D variant on neuropathic pain
2026 Pain article Neuroscience Ion Channels and Receptors

Nicole Michelle Schottmann, Mirjam Jeanette Eberhardt, Sebastian Wehmeyer, Vijay Krishna Medala, Caren Meyer zu Altenschildesche, Julia Grüner, +4 more

0

citations
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder
2021 Annals of Clinical and Translational Neurology article Neuroscience Genetic Neurodegenerative Diseases Open access

Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander Ulrich Brandt, Elena Schlapakow, Susanne Greschus, +22 more

21

citations
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
2023 Brain article Neuroscience Hereditary Neurological Disorders Open access

Annette Lischka, Katja Eggermann, Christopher J. Record, Maike Franziska Dohrn, Petra Laššuthová, Florian Kraft, +75 more

31

citations
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
2022 Annals of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more

9

citations
The Effects of Repetitive Use and Pathological Remodeling on Channelrhodopsin Function in Cardiomyocytes
2021 Frontiers in Physiology article Neuroscience Photoreceptor and optogenetics research Open access

Balázs Ördög, Alexander S Teplenin, Tim De Coster, Cindy I. Bart, Sven O. Dekker, Juan Zhang, +3 more

9

citations
Functional polygenic risk score of glucocorticoid-dependent regulatory element activity and its relation to clinical and stress-related phenotypes
2025 Psychoneuroendocrinology article Neuroscience Stress Responses and Cortisol Open access

Felix Linsen, Philippe C. Habets, Yuri Milaneschi, Signe Penner-Goeke, B Mishuris, Darina Czamara, +4 more

2

citations
The grand challenge in cellular neurophysiology
2026 Frontiers in Cellular Neuroscience article Neuroscience Neuroscience and Neuropharmacology Research Open access

Björn Kampa, Arianna Maffei

0

citations
Code Repository for the Paper "Characterizing Neural Manifolds' Properties and Curvatures using Normalizing Flows" (PRX Life, 2026)
2026 Zenodo (CERN European Organization for Nuclear Research) article Neuroscience Neural dynamics and brain function Open access

Peter Bouss, Sandra Nestler, Kirsten Fischer, Claudia Merger, Lars Schutzeichel, Simon Musall, +2 more

1

citations
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A
2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access

Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more

1

citations
Code Repository for the Paper "Characterizing Neural Manifolds' Properties and Curvatures using Normalizing Flows" (PRX Life, 2026)
2026 Zenodo (CERN European Organization for Nuclear Research) article Neuroscience Neural dynamics and brain function Open access

Peter Bouss, Sandra Nestler, Kirsten Fischer, Claudia Merger, Lars Schutzeichel, Simon Musall, +2 more

0

citations
Characterizing Neural Manifolds' Properties and Curvatures using Normalizing Flows
2026 PRX Life article Neuroscience Neural dynamics and brain function Open access

Peter Bouss, Sandra Nestler, Kirsten Fischer, Claudia Merger, Lars Schutzeichel, Simon Musall, +2 more

0

citations

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