Author

Carla Mendonça

Observed names: C. Mendonca, C. Mendonça, Mendonça, Carla

Institutions: Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Unidade Local de Saúde do Algarve

Observed institutions: Radboud University Medical Center, Hospital de Faro EPE, Amsterdam Neuroscience, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Unidade Local de Saúde do Algarve, Donders Institute for Brain, Cognition and Behaviour, Amsterdam UMC Location Vrije Universiteit Amsterdam

ORCID: 0000-0001-9926-0598

Observed ORCID: 0000-0001-9926-0598

OpenAlex ID: A5012813377

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

2016 · Johannes R. Lemke, Kirsten Geider, et al. · Neurology · 205

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

2014 · L. van Berge, E. M. Hamilton, et al. · Brain · 111

Early-Onset LBSL: How Severe Does It Get?

2012 · M. Steenweg, L. van Berge, et al. · Neuropediatrics · 54

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

2018 · Yoko Ito, Keren J. Carss, et al. · The American Journal of Human Genetics · 42

Anatomical and physiological basis of continuous spike–wave of sleep syndrome after early thalamic lesions

2017 · Alberto Leal, Eulália Calado, et al. · Epilepsy & Behavior · 26

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study

2024 · C. Nogueira, C. Pereira, et al. · Frontiers in Cell and Developmental Biology · 18

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

2020 · Dulce Quelhas, Esmeralda Martins, et al. · The Journal of Pediatrics · 18

Screening for Pompe disease in a Portuguese high risk population

2017 · Vânia Almeida, Isabel Conceição, et al. · Neuromuscular Disorders · 17

Cytomegalovirus encephalitis in an immunocompetent child: a sceptic diagnosis

2012 · Filipa Belo, Isabel Mendes, et al. · BMJ Case Reports · 13

High incidence of early thalamic lesions in the Continuous Spike-Wave related with slow Sleep (CSWS)

2022 · Daniel Carvalho, Carla Mendonça, et al. · Epilepsy & Behavior · 9

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

2013 · Hipólito Nzwalo, Vera Santos, et al. · Pediatric Neurology · 6

A Rare Cause of Intellectual Disability

2024 · Íris Oliveira, Andreia Fernandes, et al. · Cureus · 1

Periventricular Nodular Heterotopias Induced-Seizures in an Adolescent

2024 · Andreia Fernandes, Mafalda J Pereira, et al. · Cureus

Koolen-de Vries syndrome – National Case Series with clinical and molecular characterization

2019 · Marta P. Soares, Márcia T. Rodrigues, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)

Works count: 16

Citation count: 520

H-index: 9

I10-index: 9