Optical coherence tomography as a biomarker of neurodegeneration in multiple sclerosis: a review
R Alonso, D Gonzalez-Moron, O Garcea - Multiple sclerosis and related …, 2018 - Elsevier
Neurodegeneration is one the most important pathological factors which contributes to
permanent disability in multiple sclerosis (MS). Optical coherence tomography (OCT) …
permanent disability in multiple sclerosis (MS). Optical coherence tomography (OCT) …
[HTML][HTML] Whole exome sequencing in neurogenetic odysseys: an effective, cost-and time-saving diagnostic approach
…, C Vásquez-Dusefante, N Medina, D González-Morón… - PloS one, 2018 - journals.plos.org
Background Diagnostic trajectories for neurogenetic disorders frequently require the use of
considerable time and resources, exposing patients and families to so-called “diagnostic …
considerable time and resources, exposing patients and families to so-called “diagnostic …
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
…, J Gburek-Augustat, D Gonzalez Moron… - The Journal of …, 2021 - academic.oup.com
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically
characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused …
characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused …
[HTML][HTML] Computational classifiers for predicting the short-term course of Multiple sclerosis
B Bejarano, M Bianco, D Gonzalez-Moron, J Sepulcre… - BMC neurology, 2011 - Springer
Background The aim of this study was to assess the diagnostic accuracy (sensitivity and
specificity) of clinical, imaging and motor evoked potentials (MEP) for predicting the short-term …
specificity) of clinical, imaging and motor evoked potentials (MEP) for predicting the short-term …
[HTML][HTML] Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder
…, JJ Zaiat, SP Completa, PA Vega, D Gonzalez-Moron… - PloS one, 2015 - journals.plos.org
Introduction Clinical genomics promise to be especially suitable for the study of etiologically
heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three …
heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three …
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and …
…, C Ciraolo, S Christiansen, D Consalvo… - European Journal of …, 2019 - Elsevier
… 4, C y D). We reported this novel somatic variant in ClinVar (ClinVar submission
accession number: SCV000778838.1). We assessed mTORC1 activity by visualizing the …
accession number: SCV000778838.1). We assessed mTORC1 activity by visualizing the …
[HTML][HTML] Germline and somatic mutations in cortical malformations: molecular defects in Argentinean patients with neuronal migration disorders
D González-Morón, S Vishnopolska, D Consalvo… - PLoS …, 2017 - journals.plos.org
Neuronal migration disorders are a clinically and genetically heterogeneous group of
malformations of cortical development, frequently responsible for severe disability. Despite the …
malformations of cortical development, frequently responsible for severe disability. Despite the …
[PDF][PDF] Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia
M Córdoba, SA Rodríguez Quiroga, D Gonzalez Moron… - 2015 - ri.conicet.gov.ar
Intellectual disability (ID) is a common neurodevelopmental disorder that involves impairments
of general mental abilities that impact adaptive functioning (1). Noteworthy advances in …
of general mental abilities that impact adaptive functioning (1). Noteworthy advances in …
The odyssey of complex neurogenetic disorders: from undetermined to positive
…, L Zavala, D González‐Morón… - American Journal of …, 2020 - Wiley Online Library
The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their
families into a “diagnostic odyssey.” An increase in the variability of genetic disorders and …
families into a “diagnostic odyssey.” An increase in the variability of genetic disorders and …
Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis
MA Kauffman, D Consalvo, D Gonzalez-Morón… - Epilepsy research, 2009 - Elsevier
We performed a molecular epidemiology study in a population of 105 mesial temporal lobe
epilepsy with hippocampal sclerosis (MTE-HS) patients in order to investigate the role of a …
epilepsy with hippocampal sclerosis (MTE-HS) patients in order to investigate the role of a …