Schüle, Rebecca

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., et al. (2016) · Annals of Neurology

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 315

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency

Rieber, N., Gazendam, R. P., Freeman, A. F., Hsu, A. P., Collar, A. L., Sugui, J. A., Drummond, R. A., Rongkavilit, C., Hoffman, K., Henderson, C., et al. (2016) · JCI Insight

Immunodeficiency and Autoimmune DisordersAntifungal resistance and susceptibility

Cited by 171

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D’Aloia, M., Montieri, P., Schüle, R., Ishiura, H., Price, J., et al. (2012) · Journal of Clinical Investigation

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 170

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Rattay, T. W., Rautenberg, M., Söhn, A. S., Hengel, H., Traschütz, A., Röben, B., Hayer, S. N., Schüle, R., Wiethoff, S., Zeltner, L., et al. (2020) · Scientific Reports

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 61

ADHD candidate gene (DRD4 exon III) affects inhibitory control in a healthy sample

Krämer, U. M., Rojo, N., Schüle, R., Cunillera, T., Schöls, L., Marco-Pallarés, J., Cucurell, D., Camara, E., Rodriguez-Fornells, A., & Münte, T. F. (2009) · BMC Neuroscience

Attention Deficit Hyperactivity DisorderNeurotransmitter Receptor Influence on Behavior

Cited by 42

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schüle, R., Züchner, S., De Jonghe, P., Schenck, A., et al. (2018) · Brain

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 25

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Rattay, T. W., Just, J., Röben, B., Hengel, H., Schüle, R., Synofzik, M., Söhn, A. S., Winter, N., Dammeier, N., Schöls, L., et al. (2018) · Orphanet Journal of Rare Diseases

Hereditary Neurological DisordersPeripheral Nerve Disorders

Cited by 14