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The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review2025 Journal of Huntington s Disease article Neuroscience Genetic Neurodegenerative Diseases Open access
Anna van Hofslot, Mayke Oosterloo, Joost J.A. de Jong, Ruben L. Andriessen, Susanne Tamara de Bot, David E.J. Linden
0citations -
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 -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 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
1citations -
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 -
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias2023 The American Journal of Human Genetics article Neuroscience Genetic Neurodegenerative Diseases Open access
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, +66 more
33citations -
Meningeal inflammation in multiple sclerosis induces phenotypic changes in cortical microglia that differentially associate with neurodegeneration2021 Acta Neuropathologica article Neuroscience Neuroinflammation and Neurodegeneration Mechanisms Open access
Lynn van Olst, Carla Rodriguez-Mogeda, Carmen Picón, Svenja Kiljan, Rachel James, Alwin Kamermans, +12 more
88citations -
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder2021 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
21citations