Maryline Carneiro

MOG antibody-related disorders: common features and uncommon presentations

Álvaro Cobo‐Calvo, Anne Ruiz, Hyacintha d’Indy et al. · Journal of Neurology · 2017 · 130 citations

Life Sciences, Immunology, Pathology +16

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo et al. · Orphanet Journal of Rare Diseases · 2013 · 92 citations · Full text

Medicine, Genetics, Neurology +17

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort

Gaëlle Blanchard, Marie-Pierre Lafforgue, Laurence Lion‐François et al. · European Journal of Paediatric Neurology · 2015 · 81 citations

Medicine, Pediatrics, Radiology +15

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Markus Zweier, Anaïs Begemann, Kirsty McWalter et al. · European Journal of Human Genetics · 2019 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet, Laurence Faivre, Jeanne Amiel et al. · Journal of Medical Genetics · 2018 · 62 citations · Full text

Life Sciences, Genetics, Neurology +15