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List of works by Sofia Duarte

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome

scientific article

Adenosine A1 Receptor Suppresses Tonic GABAA Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of Interneurons

scientific article published in December 2014

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

scientific article published on 13 January 2011

Atypical phenotype in two patients with LAMA2 mutations

scientific article published on 25 January 2014

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

scientific article published on 31 October 2014

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

scientific article published on July 2011

Mitochondrial diseases mimicking neurotransmitter defects.

scientific article published on 21 May 2008

Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.

scientific article

Parkinsonism and inborn errors of metabolism.

scientific article

Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency ⬇️

scientific article published on January 1, 2011

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