Hafsa Mamsa
University of California, Los Angeles(US)UCLA Health(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Ion channel regulation and function, RNA Research and Splicing
Most-Cited Works
- → C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy(2007)447 cited
- → Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration(2012)259 cited
- → Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake(2009)145 cited
- → Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia(2016)97 cited
- → A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism(2009)65 cited
- → A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity(2005)63 cited
- → Prolonged hemiplegic episodes in children due to mutations in ATP1A2(2006)53 cited
- → Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea(2007)39 cited
- → Multi-omics analysis of sarcospan overexpression in mdx skeletal muscle reveals compensatory remodeling of cytoskeleton-matrix interactions that promote mechanotransduction pathways(2023)15 cited
- → Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease(2021)8 cited