Xilma R Ortiz-Gonzalez
Overview
Explore the profile of Xilma R Ortiz-Gonzalez including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
37
Citations
3337
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Flores-Mendez M, Ohl L, Roule T, Zhou Y, Tintos-Hernandez J, Walsh K, et al.
EMBO Rep
. 2024 Jul;
25(9):3990-4012.
PMID: 39075237
Metabolic dysregulation is one of the most common causes of pediatric neurodegenerative disorders. However, how the disruption of ubiquitous and essential metabolic pathways predominantly affect neural tissue remains unclear. Here...
2.
Jiang Y, Jahagirdar B, Reinhardt R, Schwartz R, Keene C, Ortiz-Gonzalez X, et al.
Nature
. 2024 Jun;
630(8018):1020.
PMID: 38886620
No abstract available.
3.
Flores-Mendez M, Ohl L, Roule T, Zhou Y, Tintos-Hernandez J, Walsh K, et al.
bioRxiv
. 2024 Feb;
PMID: 38328116
Metabolic dysregulation is one of the most common causes of pediatric neurodegenerative disorders. However, how the disruption of ubiquitous and essential metabolic pathways predominantly affect neural tissue remains unclear. Here...
4.
Shieh J, Tintos-Hernandez J, Murali C, Penon-Portmann M, Flores-Mendez M, Santana A, et al.
HGG Adv
. 2023 Sep;
4(4):100236.
PMID: 37660254
Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain...
5.
Brimble E, Reyes K, Kuhathaas K, Devinsky O, Ruzhnikov M, Ortiz-Gonzalez X, et al.
Orphanet J Rare Dis
. 2023 Jun;
18(1):149.
PMID: 37308910
Background: We refine the clinical spectrum of FOXG1 syndrome and expand genotype-phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. Methods: The FOXG1 syndrome online patient...
6.
Shieh J, Tintos-Hernandez J, Murali C, Penon-Portmann M, Flores-Mendez M, Santana A, et al.
medRxiv
. 2023 Feb;
PMID: 36778397
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by and , respectively. Heterozygous variants in cause hereditary neuroferritinopathy, a type of neurodegeneration with brain...
7.
Kayumi S, Perez-Jurado L, Palomares M, Rangu S, Sheppard S, Chung W, et al.
Genet Med
. 2022 Sep;
24(11):2351-2366.
PMID: 36083290
Purpose: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP)....
8.
Tintos-Hernandez J, Santana A, Keller K, Ortiz-Gonzalez X
Brain Commun
. 2021 Nov;
3(4):fcab215.
PMID: 34816123
Biallelic variants in the gene cause intellectual disability with remarkable clinical variability, ranging from static encephalopathy to progressive neurodegeneration (TBCK-Encephaloneuronopathy). The biological factors underlying variable disease penetrance remain unknown. Since...
9.
Johannesen K, Gardella E, Gjerulfsen C, Bayat A, Rouhl R, Reijnders M, et al.
Neurol Genet
. 2021 Nov;
7(6):e613.
PMID: 34790866
Background And Objectives: Purine-rich element-binding protein A () gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a syndrome characterized by intellectual disability, hypotonia, epilepsy, and...
10.
Ortiz-Gonzalez X
Dev Neurosci
. 2021 Aug;
43(3-4):222-229.
PMID: 34350863
Mitochondria, the organelles classically seen as the powerhouse of the cell, are increasingly associated with a wide variety of neurodevelopmental disorders. Although individually rare, a myriad of pediatric neurogenetic disorders...