Juan Dario Ortigoza-Escobar
Overview
Explore the profile of Juan Dario Ortigoza-Escobar including associated specialties, affiliations and a list of published articles.
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Articles
55
Citations
299
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Recent Articles
1.
Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar J, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, et al.
Patient Educ Couns
. 2025 Feb;
135:108708.
PMID: 40010061
Objective: Develop a proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines (CPGs) based on a systematic review of qualitative literature. Methods:...
2.
Ortuno-Yepes B, Martorell L, Armstrong J, Ortigoza-Escobar J
Parkinsonism Relat Disord
. 2025 Feb;
:107327.
PMID: 39971646
No abstract available.
3.
Ousingsawat J, Talbi K, Gomez-Martin H, Koy A, Fernandez-Jaen A, Tekgul H, et al.
BMC Med
. 2025 Jan;
23(1):12.
PMID: 39773217
Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients...
4.
Carmona-Hidalgo B, Herrera-Ramos E, Rodriguez-Lopez R, Nou-Fontanet L, Moreno J, Blasco-Amaro J, et al.
PLoS One
. 2024 Oct;
19(10):e0309064.
PMID: 39466809
Background: NKX2-1, a crucial transcription factor in thyroid, lung, and brain development, is associated with rare disorders featuring thyroid dysfunction, neurological abnormalities, and respiratory symptoms. The primary challenge in managing...
5.
Amato M, Balsells S, Martorell L, Alcala San Martin A, Ansell K, Borresen M, et al.
Eur J Paediatr Neurol
. 2024 Oct;
53:63-72.
PMID: 39413657
Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a...
6.
Rodriguez-Gonzalez H, Ormazabal A, Casado M, Arias A, Oliva C, Barranco-Altirriba M, et al.
Clin Chem
. 2024 Sep;
70(12):1443-1451.
PMID: 39331696
Background: Cerebrospinal fluid (CSF) homovanillic (HVA), and 5-hydroxyindoleacetic acids (5-HIAA) are biomarkers of neurological diseases affecting the dopaminergic and serotoninergic pathways. Establishing reference intervals for these metabolites faces the challenges...
7.
Rots D, Choufani S, Faundes V, Dingemans A, Joss S, Foulds N, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1626-1642.
PMID: 39013459
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums...
8.
Amato M, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, et al.
Eur J Paediatr Neurol
. 2024 Jul;
52:10-19.
PMID: 38970889
Aim: This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age,...
9.
Nou-Fontanet L, Nguyen Q, Bachoud-Levi A, Reinhard C, Ortigoza-Escobar J
Eur J Paediatr Neurol
. 2024 Jun;
51:110-117.
PMID: 38917695
Background: NKX2-1-related disorder (NKX2-1-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea. Objective: This study aimed to identify discrepancies...
10.
Dominguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, et al.
Front Neurol
. 2024 Jun;
15:1403815.
PMID: 38903163
Background: -related disorders (-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary...