Natalie Grant
Massachusetts General Hospital(US)
Publications by Year
Research Areas
Peroxisome Proliferator-Activated Receptors, Biomedical Research and Pathophysiology, Metabolism and Genetic Disorders, Hereditary Neurological Disorders, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial(2023)38 cited
- → Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants(2023)32 cited
- → Clinical myopathy in patients with nephropathic cystinosis(2019)27 cited
- → Assessing non-Mendelian inheritance in inherited axonopathies(2020)27 cited
- → Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy(2021)24 cited
- → Restless Legs Syndrome in X-linked adrenoleukodystrophy(2022)11 cited
- → Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis(2020)10 cited
- → Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome(2023)8 cited