Freixo J - Search Results

1

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Marujo F, Pelham SJ, Freixo J, Cordeiro AI, Martins C, Casanova JL, Lei WT, Puel A, Neves JF. Marujo F, et al. Among authors: freixo j. J Clin Immunol. 2021 Aug;41(6):1376-1379. doi: 10.1007/s10875-021-01026-2. Epub 2021 Apr 7. J Clin Immunol. 2021. PMID: 33825088 Free PMC article.

2

It's Never Too Late for a Diagnosis.

Coelho M, Durães J, Freixo J, Tomás J, Macário C. Coelho M, et al. Among authors: freixo j. Endocr Metab Immune Disord Drug Targets. 2023 Oct 18. doi: 10.2174/0118715303280103231006102831. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859411

3

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.

Padeira GL, Araújo C, Cordeiro AI, Freixo J, Martins CG, Neves JF. Padeira GL, et al. Among authors: freixo j. Front Immunol. 2021 Apr 28;12:654167. doi: 10.3389/fimmu.2021.654167. eCollection 2021. Front Immunol. 2021. PMID: 33995370 Free PMC article.

4

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Castro ACE, Maia R, Batalha S, Freixo JP, Martins C, Neves C, Cordeiro AI, Neves JF. Castro ACE, et al. Front Immunol. 2022 May 3;13:869728. doi: 10.3389/fimmu.2022.869728. eCollection 2022. Front Immunol. 2022. PMID: 35592332 Free PMC article.

5

MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes.

Malaquias MJ, Martins RC, Oliveira J, Freixo JP, Magalhães M. Malaquias MJ, et al. Among authors: freixo jp. Clin Genet. 2020 Nov;98(5):517-519. doi: 10.1111/cge.13836. Epub 2020 Sep 8. Clin Genet. 2020. PMID: 32896900 No abstract available.

6

Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi-Goutières Syndrome.

Mendes Pinto C, Freixo J, Brandão AF, Magalhães M. Mendes Pinto C, et al. Among authors: freixo j. Mov Disord Clin Pract. 2021 Aug 11;8(7):1159-1161. doi: 10.1002/mdc3.13320. eCollection 2021 Oct. Mov Disord Clin Pract. 2021. PMID: 34631961 Free PMC article. No abstract available.

7

X-linked hypophosphatemic rickets: a new mutation.

Maio P, Mano L, Rocha S, Baptista RB, Francisco T, Sousa H, Freixo JP, Abranches M. Maio P, et al. J Bras Nefrol. 2021 Apr-Jun;43(2):279-282. doi: 10.1590/2175-8239-JBN-2020-0027. J Bras Nefrol. 2021. PMID: 32897287 Free PMC article.

8

Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria.

Malaquias MJ, Costa D, Pinto E, Videira G, Oliveira J, Freixo JP, Vilarinho L, Magalhães M. Malaquias MJ, et al. Among authors: freixo jp. Parkinsonism Relat Disord. 2021 May;86:45-47. doi: 10.1016/j.parkreldis.2021.03.025. Epub 2021 Apr 1. Parkinsonism Relat Disord. 2021. PMID: 33839641

9

A Case of YY1-Related Isolated Dystonia with Severe Oromandibular Involvement.

Malaquias MJ, Damásio J, Mendes A, Freixo JP, Magalhães M. Malaquias MJ, et al. Among authors: freixo jp. Mov Disord. 2021 Nov;36(11):2705-2706. doi: 10.1002/mds.28771. Epub 2021 Aug 19. Mov Disord. 2021. PMID: 34411328 No abstract available.

10

Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.

Malaquias MJ, Pinto CM, Sardoeira A, Oliveira J, Freixo JP, Silva AA, Abreu P, Coelho CR, Damásio J, Vila-Chã N, Magalhães M. Malaquias MJ, et al. Among authors: freixo jp. Neurol Sci. 2021 Feb;42(2):771. doi: 10.1007/s10072-020-04926-0. Neurol Sci. 2021. PMID: 33225422 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

25 results

Search Page

Filters