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Publications by Tobias B. Haack
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics
Genetics
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
VARS2andTARS2Mutations in Patients With Mitochondrial Encephalomyopathies
Human Mutation
Genetics
KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency
European Journal of Human Genetics
Genetics
Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an ALS2 Founder Variant
Neurological Sciences
Dermatology
Medicine
Psychiatry
Neurology
Mental Health