Ortigoza-Escobar JD - Search Results

1

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.

Amato ME, Ricart S, Vicente MA, Martorell L, Armstrong J, Fernández Isern G, Mascaro JM, Balsells S, Alonso I, Serrano M, Ortigoza-Escobar JD. Amato ME, et al. Clin Case Rep. 2023 Apr 24;11(4):e7275. doi: 10.1002/ccr3.7275. eCollection 2023 Apr. Clin Case Rep. 2023. PMID: 37113642 Free PMC article.

2

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92. Orphanet J Rare Dis. 2014. PMID: 24957181 Free PMC article.

3

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R. Batllori M, et al. J Inherit Metab Dis. 2018 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4. J Inherit Metab Dis. 2018. PMID: 29974349

4

Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.

Tamura N, Sakai S, Martorell L, Colomé R, Mizuike A, Goto A, Ortigoza-Escobar JD, Hanada K. Tamura N, et al. J Biol Chem. 2021 Nov;297(5):101338. doi: 10.1016/j.jbc.2021.101338. Epub 2021 Oct 22. J Biol Chem. 2021. PMID: 34688657 Free PMC article.

5

Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells.

Soliani L, Martorell L, Yubero D, Verges C, Petit V, Ortigoza-Escobar JD. Soliani L, et al. Mov Disord Clin Pract. 2021 Dec 27;9(2):252-254. doi: 10.1002/mdc3.13391. eCollection 2022 Feb. Mov Disord Clin Pract. 2021. PMID: 35146065 Free PMC article. No abstract available.

6

The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD. Martorell L, et al. Clin Genet. 2022 May;101(5-6):575-576. doi: 10.1111/cge.14124. Epub 2022 Feb 22. Clin Genet. 2022. PMID: 35191016 No abstract available.

7

Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.

Yubero D, Martorell L, Nunes T, Lyon GJ, Ortigoza-Escobar JD. Yubero D, et al. Mov Disord. 2022 Nov;37(11):2320-2321. doi: 10.1002/mds.29241. Epub 2022 Oct 11. Mov Disord. 2022. PMID: 36221186 Free PMC article. No abstract available.

8

Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.

Martorell L, Macaya A, Pérez-Dueñas B, Ortigoza-Escobar JD. Martorell L, et al. Mov Disord Clin Pract. 2022 Aug 22;9(7):979-982. doi: 10.1002/mdc3.13528. eCollection 2022 Oct. Mov Disord Clin Pract. 2022. PMID: 36247910 Free PMC article. No abstract available.

9

Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.

Soliani L, Alcalá San Martín A, Balsells S, Hernando-Davalillo C, Ortigoza-Escobar JD. Soliani L, et al. Mov Disord Clin Pract. 2023 Mar 16;10(4):547-557. doi: 10.1002/mdc3.13711. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070051 Free PMC article. Review.

10

Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.

Nou-Fontanet L, García-Navas D, Gómez-Martín H, Martorell L, Ortigoza-Escobar JD. Nou-Fontanet L, et al. Mov Disord Clin Pract. 2023 Mar 20;10(6):1013-1015. doi: 10.1002/mdc3.13724. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332634 Free PMC article. No abstract available.

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