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Papers matching “mutation rate” 13

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Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
2025 The Lancet Regional Health - Europe article Neuroscience Genetic Neurodegenerative Diseases Open access

Moritz Berger, Héctor García‐Moreno, Mónica Ferreira, Jeannette Hübener‐Schmid, Tamara Schaprian, Philipp Wegner, +46 more

12

citations
Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling
2026 Orphanet Journal of Rare Diseases article Neuroscience Genetic Neurodegenerative Diseases Open access

Max J. Rensink, Ineke L L E Bolt, Aad Tibben, Mayke Oosterloo, Bart P.C. van de Warrenburg, Maartje Schermer

2

citations
Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling
2026 Figshare other Neuroscience Genetic Neurodegenerative Diseases Open access

Max J. Rensink, Ineke L L E Bolt, Aad Tibben, Mayke Oosterloo, Bart P.C. van de Warrenburg, Maartje Schermer

0

citations
Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling
2026 Figshare other Neuroscience Genetic Neurodegenerative Diseases Open access

Max J. Rensink, Ineke L L E Bolt, Aad Tibben, Mayke Oosterloo, Bart P.C. van de Warrenburg, M. H. N. Schermer

0

citations
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
2025 medRxiv preprint Neuroscience Genetic Neurodegenerative Diseases Open access

Moritz Berger, Héctor García‐Moreno, Mónica Ferreira, Jeannette Hübener‐Schmid, Tamara Schaprian, Philipp Wegner, +46 more

1

citations
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment
2025 EBioMedicine article Neuroscience Genetic Neurodegenerative Diseases Open access

Hannah Baumeister, Philipp Wegner, Mónica Ferreira, Tamara Schaprian, Marcondes C. França, Thiago Junqueira Ribeiro Rezende, +71 more

3

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
Mechanic Forces Promote Brain Endothelial Activation by SARS-CoV-2 Spike Protein
2020 Stroke editorial Neuroscience Barrier Structure and Function Studies

Aaron Babendreyer, Andreas Ludwig

0

citations
Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3
2022 European Journal of Neurology article Neuroscience Genetic Neurodegenerative Diseases Open access

Héctor García‐Moreno, Mercedes Prudencio, Gilbert Thomas‐Black, Nita Solanky, Karen R. Jansen‐West, Rana Hanna Al‐Shaikh, +21 more

50

citations
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
2024 Brain article Neuroscience Hereditary Neurological Disorders Open access

Danique Beijer, Maike Franziska Dohrn, Adriana P. Rebelo, Matt Christopher Danzi, Bianca Rose Grosz, Melina Ellis, +22 more

4

citations
Effect of Body Weight on Age at Onset in Huntington Disease
2021 Neurology Genetics article Neuroscience Genetic Neurodegenerative Diseases Open access

Jorien M.M. van der Burg, Patrick Weydt, G. Bernhard Landwehrmeyer, N. Ahmad Aziz

16

citations
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
2023 Brain article Neuroscience Hereditary Neurological Disorders Open access

Adriana P. Rebelo, Pedro José Tomaselli, Jessica Medina, Ying Wang, Maike Franziska Dohrn, Eva Nývltová, +18 more

22

citations
Machine Learning-Assisted Engineering of Light, Oxygen, Voltage Photoreceptor Adduct Lifetime
2023 JACS Au article Neuroscience Photoreceptor and optogenetics research Open access

Stefanie Hemmer, Niklas E. Siedhoff, Sophia Werner, Gizem Ölçücü, Ulrich Schwaneberg, Karl‐Erich Jaeger, +2 more

6

citations

13 results