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Papers matching “clinical phenotype” 52

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The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review
2025 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

0

citations
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its role on clinical phenotype
2023 Research Square preprint Neuroscience Genetic Neurodegenerative Diseases Open access

Roberto Rodríguez‐Labrada, Nalia Canales‐Ochoa, Maria de Lourdes Galicia-Polo, Edilia Cruz-Rivas, Sandro Romanzetti, Arnoy Peña-Acosta, +6 more

1

citations
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
2024 The Cerebellum article Neuroscience Genetic Neurodegenerative Diseases

Roberto Rodríguez‐Labrada, Nalia Canales‐Ochoa, Maria de Lourdes Galicia-Polo, Edilia Cruz-Rivas, Sandro Romanzetti, Arnoy Peña-Acosta, +6 more

4

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
Phenotype spectrum of idiopathic small fiber neuropathies – Experience from a prospective registry study (n > 200)
2024 Clinical Neurophysiology article Neuroscience Hereditary Neurological Disorders

Nicole van den Braak, C Dumke, R. Broschwitz, Andrea Maier, Jörg Bernhard Schulz, Martin Häusler, +5 more

0

citations
Local synchronicity in dopamine-rich caudate nucleus influences Huntington’s disease motor phenotype
2023 Brain article Neuroscience Genetic Neurodegenerative Diseases

Jan Kasper, Simon Bodo Eickhoff, Svenja Caspers, Jessica Peter, Imis Dogan, Robert Christian Wolf, +2 more

23

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
Visualization and clinical relevance of the endolymphatic duct and sac in Ménière's disease
2023 Frontiers in Neurology article Neuroscience Vestibular and auditory disorders Open access

Lisa M. H. de Pont, Maartje T. P. M. Houben, Thijs O. Verhagen, Berit M. Verbist, Mark A. van Buchem, Claire C. Bommeljé, +2 more

15

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
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
New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies
2021 Neurotherapeutics article Neuroscience Hereditary Neurological Disorders Open access

Natalie Winter, Debora Vittore, Burkhard Gess, Jörg Bernhard Schulz, Alexander Grimm, Maike Franziska Dohrn

17

citations
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
2021 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

71

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
B002 The Dutch CureQ consortium: using IPSC modelling and clinical and biomarker data from patients to predict, delay and cure polyglutamine caused neurodegeneration
2024 conference-abstract Neuroscience Genetic Neurodegenerative Diseases Open access

Willeke van Roon‐Mom, Ineke L L E Bolt, Jurre Hageman, Bart Baselmans, Harm H. Kampinga, Monique T. Mulder, +5 more

0

citations
Musicality and social cognition in dementia: clinical and anatomical associations
2024 Brain Communications article Neuroscience Neuroscience and Music Perception Open access

Jochum J. van ’t Hooft, Willem Lucas Hartog, Dewi Boessen, Jay L.P. Fieldhouse, Marie‐Paule E. van Engelen, Ellen H. Singleton, +11 more

4

citations
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
2024 Journal of Neurology article Neuroscience Genetic Neurodegenerative Diseases Open access

Tim Elter, Daniel Sturm, Magda M. Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, +21 more

3

citations
Prediction of the disease course in Friedreich ataxia
2022 Scientific Reports article Neuroscience Genetic Neurodegenerative Diseases Open access

Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, +19 more

9

citations
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
2021 The Lancet Neurology article Neuroscience Genetic Neurodegenerative Diseases cited by 1 patent

Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, +41 more

102

citations
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
2023 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

33

citations
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
2025 Neurology Genetics article Neuroscience Genetic Neurodegenerative Diseases Open access

Marianela Schiava, Yolande Parkhurst, Tuomo M. Polvikoski, Manouela V. Valtcheva, Ichizo Nishino, Michio Inoue, +90 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
Disease spectrum and long-term prognosis of patients with BAG3 -associated neuromuscular diseases in Europe
2025 Brain article Neuroscience Hereditary Neurological Disorders Open access

Gorka Fernández‐Eulate, Cyril Gitiaux, Simone Thiele, Heinz Jungbluth, Anna Potulska‐Chromik, Chiara Marini‐Bettolo, +26 more

1

citations
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
Meningeal inflammation in multiple sclerosis induces phenotypic changes in cortical microglia that differentially associate with neurodegeneration
2021 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

88

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