Hafsa Mamsa

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 444 citations

Ocular Disease, C-terminal Truncations, Retina +8

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 257 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +6

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

Boukje de Vries, Hafsa Mamsa, Anine H Stam et al. · Archives of Neurology · 2009 · 145 citations · Full text

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw et al. · Brain · 2016 · 97 citations · Full text

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

Patricia Blanco, Anja P. Einholm, Hafsa Mamsa et al. · Human Molecular Genetics · 2009 · 65 citations · Full text