Alexander Fay

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 147 citations · Full text

Medicine, Neurology, Neuroscience +11

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen et al. · Human Mutation · 2016 · 58 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Poor nighttime sleep is positively associated with dyskinesia in Parkinson's disease patients

Chengjie Mao, Yaping Yang, Juping Chen et al. · Parkinsonism & Related Disorders · 2017 · 25 citations

Medicine, Neurology, Neuroscience +14

HIV-Related Cognitive Impairment of Orphans in Myanmar With Vertically Transmitted HIV Taking Antiretroviral Therapy

Kyaw Linn, Alexander Fay, Katherine Meddles et al. · Pediatric Neurology · 2015 · 19 citations

Medicine, Psychiatry, Behavioral Health +11

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Paldeep S. Atwal, Mark Midei, Darius J. Adams et al. · Orphanet Journal of Rare Diseases · 2020 · 16 citations · Full text

Medicine, Neurology, Pediatrics +17