María Luz Ruiz-Falcó

X‐linked <i>NDUFA1</i> gene mutations associated with mitochondrial encephalomyopathy

Daniel Fernández-Moreira, Cristina Ugalde, Roel Smeets et al. · Annals of Neurology · 2007 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp>l</scp>-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients

Marjan E. Steenweg, Gajja S. Salomons, Graziella Uziel et al. · Radiology · 2009 · 100 citations

Medicine, Neurology, Radiology +14

Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex

Àlex Rovira, María Luz Ruiz-Falcó, Elena García-Esparza et al. · Journal of Neuro-Oncology · 2014 · 35 citations · Full text

Medicine, Neurology, Radiology +8

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · Scientific Reports · 2017 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso et al. · Scientific Reports · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16