Hélio Pedro

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text

Life Sciences, Neurology, Neuroscience +17

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 152 citations · Full text

Life Sciences, Neurology, Neuroscience +14

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 132 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +3

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

Museer A. Lone, Mari J. Aaltonen, Aliza Zidell et al. · Journal of Clinical Investigation · 2022 · 61 citations · Full text

Life Sciences, Neurology, Neuroscience +17