Lisa Abreu
National Hospital for Neurology and Neurosurgery(GB)Research Network (United States)(US)University College London(GB)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Endoplasmic Reticulum Stress and Disease, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder(2015)204 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial(2017)105 cited
- → Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2(2018)76 cited
- → Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia(2019)60 cited
- → Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies(2016)59 cited
- →