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Publications by Sarah Wiethoff
Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
American Journal of Human Genetics
Genetics
Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Related publications
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Epileptic Encephalopathy
Journal of Child Neurology
Child Health
Neurology
Pediatrics
Perinatology
TBC1D8B Loss-Of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways
American Journal of Human Genetics
Genetics
Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Cerebellar Ataxia Due to Lead Encephalopathy in an Adult
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Early-Onset Epileptic Encephalopathy Caused by Gain-Of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits
Journal of Neuroscience
Neuroscience
Loss-Of-Function PTPRD Mutations Lead to Increased STAT3 Activation and Sensitivity to STAT3 Inhibition in Head and Neck Cancer
PLoS ONE
Multidisciplinary
KCNQ2-related Epileptic Encephalopathy
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
