Sirisak Chanprasert

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

Ayman W. El‐Hattab, Lisa Emrick, Jean W. Hsu et al. · Molecular Genetics and Metabolism · 2016 · 84 citations · Full text

Medicine, Internal Medicine, Pediatrics +10

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Medicine, Molecular Genetics, Neurology +13

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13