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Publications by Ludger Schöls
Autosomal Recessive Cerebellar Ataxias: Paving the Way Toward Targeted Molecular Therapies
Neuron
Neuroscience
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Loss of Paraplegin Drives Spasticity Rather Than Ataxia in a Cohort of 241 Patients With SPG7
Neurology
Neurology
A Pan-European Study of theC9orf72Repeat Associated With FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Human Mutation
Genetics
Side Chain-Oxidized Oxysterols Regulate the Brain Renin-Angiotensin System Through a Liver X Receptor-Dependent Mechanism
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function
European Journal of Human Genetics
Genetics
Protocol of a Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multicentre Study of the Efficacy and Safety of Nicotinamide in Patients With Friedreich Ataxia (NICOFA)
Neurological Research and Practice
Corrigendum: Variant in the Sequence of the LINGO1 Gene Confers Risk of Essential Tremor
Nature Genetics
Genetics
Association of Moderate Polyglutamine Tract Expansions in the Slow Calcium-Activated Potassium Channel Type 3 With Ataxia
Archives of Neurology
