Walla Al‐Hertani

Role of MyD88 in Diminished Tumor Necrosis Factor Alpha Production by Newborn Mononuclear Cells in Response to Lipopolysaccharide

Sen Yan, Gefei Qing, David M. Byers et al. · Infection and Immunity · 2004 · 164 citations · Full text

Life Sciences, Immunology, Microbiology +17

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Clara van Karnebeek, Sylvia Stöckler‐Ipsiroglu, Sravan Jaggumantri et al. · JIMD Reports · 2014 · 60 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +17

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Sébastien Lévesque, Christiane Auray‐Blais, Elaine Gravel et al. · Orphanet Journal of Rare Diseases · 2016 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Upgrading the evidence for the use of ambroxol in Gaucher disease and <scp>GBA</scp> related Parkinson: Investigator initiated registry based on real life data

Majdolen Istaiti, Shoshana Revel‐Vilk, Michal Becker‐Cohen et al. · American Journal of Hematology · 2021 · 51 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +17