Claudio M. de Gusmão

A framework for individualized splice-switching oligonucleotide therapy

Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão et al. · Nature · 2023 · 154 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13

The neurologist's role in supporting transition to adult health care

Lawrence W. Brown, Peter Camfield, Melissa Capers et al. · Neurology · 2016 · 111 citations · Full text

Medicine, Neurology, Pediatrics +14

Functional Neurological Symptom Disorders in a Pediatric Emergency Room: Diagnostic Accuracy, Features, and Outcome

Claudio M. de Gusmão, Réjean M. Guerriero, Miya E. Bernson‐Leung et al. · Pediatric Neurology · 2014 · 63 citations

Medicine, Neurology, Pediatrics +15

Prevalence of <i>RFC1</i> -mediated spinocerebellar ataxia in a North American ataxia cohort

Dona Aboud Syriani, Darice Y. Wong, Sameer Andani et al. · Neurology Genetics · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14