Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Tobias B. Haack

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

English

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

VARS2andTARS2Mutations in Patients With Mitochondrial Encephalomyopathies

English

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

English

Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency

European Journal of Human Genetics

English

Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an ALS2 Founder Variant

Neurological Sciences

English