Concepedia

Hafsa Mamsa

HM

Statistics

Publications

9

Citations

1.2K

H-Index

9

Active since

2005

Affiliations

University of California, Los Angeles(Current)

Royal Children's Hospital

Murdoch Children's Research Institute

Servicio Gallego de Salud

Leiden University

Hafsa Mamsa is an author at University of California, Los Angeles specializing in life sciences, genetics, and neurogenetic disorders.

ORCID

Publications per year

2005–2023

9

Publications

9

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 · 452 citations

, , +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 · 262 citations · Full text

, , +12

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

Boukje de Vries, Hafsa Mamsa, Anine H Stam et al. · Archives of Neurology · 2009 · 147 citations · Full text

, , +13

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw et al. · Brain · 2016 · 98 citations · Full text

, , +17

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 · 66 citations · Full text

, , +16

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