From

Institution

Field

Type

Open access only Cited by patents (Lens) Include non-Aachen papers (citing/cited)

Reset

Papers matching “structural variants” 24

Sort: Relevance Cited Newest Oldest Fwci Patents ⇩ CSV

Not finding it? Sign in to also search OpenAlex live.

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
Surprise-minimization as a solution to the structural credit assignment problem
2024 PLoS Computational Biology article Neuroscience Neural and Behavioral Psychology Studies Open access

Franz Wurm, Benjamin Ernst, Marco Steinhauser

2

citations
Music processing in behavioural variant frontotemporal dementia and Alzheimer’s disease: a functional MRI study
2026 Brain Communications article Neuroscience Neuroscience and Music Perception Open access

Jochum J. van ’t Hooft, Wietske van der Zwaag, Alle Meije Wink, Frederik Barkhof, Rebecca S. Schaefer, Jason D. Warren, +2 more

0

citations
Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia
2021 Movement Disorders article Neuroscience Genetic Neurodegenerative Diseases Open access

Yuliia V. Nikonishyna, Nadine J. Ortner, Teresa Kaserer, Jessica Hoffmann, Saskia Biskup, Manuel Dafotakis, +4 more

6

citations
Novel variant in CADM3 causes Charcot–Marie–Tooth disease
2023 Brain Communications article Neuroscience Hereditary Neurological Disorders Open access

Abdoulaye Yalcouyé, Adriana P. Rebelo, Lassana Cissé, Lynette C. Rives, Salia Bamba, Joy D. Cogan, +10 more

3

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
Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals
2023 Frontiers in Endocrinology article Neuroscience Regulation of Appetite and Obesity Open access

Yiran Zheng, Luisa Sophie Rajcsanyi, Manuela Kowalczyk, Johanna Giuranna, Beate Herpertz‐Dahlmann, Jochen Seitz, +15 more

6

citations
Participatory Development of a Speech-Language Telerehabilitation Intervention Combined With Home-Based Transcranial Direct Current Stimulation for Primary Progressive Aphasia: A Qualitative Study
2025 American Journal of Speech-Language Pathology article Neuroscience Transcranial Magnetic Stimulation Studies Open access

Anna Uta Rysop, Roxana Schiwek, Tanja Grewe, Caterina Breitenstein, Ferdinand Binkofski, Mandy Roheger, +3 more

0

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
Crystal Structure of the N112A Mutant of the Light-Driven Sodium Pump KR2
2020 Crystals article Neuroscience Photoreceptor and optogenetics research Open access

Nina L. Maliar, Kirill Kovalev, Christian Baeken, Taras G. Balandin, Roman Astashkin, Maksim Rulev, +7 more

7

citations
Effects of Proline Substitutions on the Thermostable LOV Domain from Chloroflexus aggregans
2020 Crystals article Neuroscience Photoreceptor and optogenetics research Open access

Alina Remeeva, Vera V. Nazarenko, Ivan M. Goncharov, Anna Yudenko, Anastasia Smolentseva, Oleg Semenov, +6 more

23

citations
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
2023 Brain Pathology article Neuroscience Hereditary Neurological Disorders Open access

Juliane Bremer, Axel Meinhardt, István Katona, Jan Senderek, Elke K. Kämmerer‐Gassler, Andreas Roos, +14 more

12

citations
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
2024 Human Genetics article Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access

Brett Colbert, Cris Lanting, Molly R. Smeal, Susan Halloran Blanton, Derek M. Dykxhoorn, Pei-Ciao Tang, +23 more

7

citations
Molecular mechanism of light-driven sodium pumping
2020 Nature Communications article Neuroscience Photoreceptor and optogenetics research Open access

Kirill Kovalev, Roman Astashkin, Ivan Gushchin, Philipp S. Orekhov, D. Volkov, Egor V. Zinovev, +17 more

96

citations
Insights into the mechanisms of light‐oxygen‐voltage domain color tuning from a set of high‐resolution X‐ray structures
2021 Proteins Structure Function and Bioinformatics article Neuroscience Photoreceptor and optogenetics research

Alina Remeeva, Vera V. Nazarenko, Kirill Kovalev, Ivan M. Goncharov, Anna Yudenko, Roman Astashkin, +2 more

17

citations
Polyalanine Expansion in PABPN1 Alters the Structure and Dynamics of Its Nuclear Aggregates in Differentiated Muscle Cells
2025 The FASEB Journal article Neuroscience Genetic Neurodegenerative Diseases Open access

Sander D. Mallon, Erik Bos, Vahid Sheikhhassani, Milad Shademan, Lenard M. Voortman, Alireza Mashaghi, +2 more

6

citations
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy
2025 Advanced Science article Neuroscience Hereditary Neurological Disorders Open access

Andrea Bock, Mona K. Schurig, Miles Willoughby, Andrea Mirecki, Eric A. Seemann, Kateryna O. Lohachova, +19 more

1

citations
Characteristic columnar connectivity caters to cortical computation: Replication, simulation, and evaluation of a microcircuit model
2022 Frontiers in Integrative Neuroscience article Neuroscience Neural dynamics and brain function Open access

Tobias Schulte to Brinke, Renato Duarte, Abigail Morrison

13

citations
Reduced functional resting-state connectivity in chronic pain patients with small fiber neuropathy
2025 Journal of Pain article Neuroscience Functional Brain Connectivity Studies Open access

Sebastian Scheliga, Han‐Gue Jo, Maike Franziska Dohrn, Thilo Kellermann, Angelika Lampert, Roman Rolke, +5 more

0

citations
Role of hydrogen bond alternation and charge transfer states in photoactivation of the Orange Carotenoid Protein
2021 Communications Biology article Neuroscience Photoreceptor and optogenetics research Open access

Igor A. Yaroshevich, Eugene G. Maksimov, Nikolai N. Sluchanko, Dmitry V. Zlenko, Alexey V. Stepanov, Ekaterina A. Slutskaya, +19 more

46

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
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
When muscles matter in SORD neuropathy
2026 Journal of Neuropathology & Experimental Neurology article Neuroscience Hereditary Neurological Disorders

Heike Kölbel, Andreas Hentschel, Corinna Preuße, May Tiet, Maike Franziska Dohrn, David Muhmann, +7 more

0

citations

24 results