Marcelo Kauffman

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Vega et al. · PLoS ONE · 2018 · 86 citations · Full text

Life Sciences, Genetics, Neurology +15

<i>SCN1A</i> testing for epilepsy: Application in clinical practice

Shinichi Hirose, Ingrid E. Scheffer, Carla Marini et al. · Epilepsia · 2013 · 73 citations · Full text

Medicine, Genetics, Neurology +17

The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to <i>STUB1</i> mutations

Adolfo M. García, Sofía Abrevaya, Giselle Kozono et al. · Journal of Medical Genetics · 2016 · 65 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, Jonathan Zaiat et al. · PLoS ONE · 2015 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Head tremor at disease onset: an ataxic phenotype of cervical dystonia

Aristide Merola, Alok Dwivedi, Aasef G. Shaikh et al. · Journal of Neurology · 2019 · 45 citations · Full text

Medicine, Neurology, Neuroscience +14