Francisco J Del Castillo

7PUBLICATIONS
32CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMedical mycologyGenetic immunologyNeurology and neuromuscular diseases
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Publications (7)

|Dec 30, 2025
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.

María Domínguez-Ruiz, Juan Luis Chico, Laura López-Marín

|Jul 12, 2025
De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

María Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto

|Jan 08, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Miloud Hammoud, María Domínguez-Ruiz, Imane Assiri

|Apr 11, 2024
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.

María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras

|Nov 25, 2023
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.

María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio

|Oct 28, 2023
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Sinziana Stanescu, Patricia Correcher Medina, Francisco J Del Castillo

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Frequent Collaborators

5 joint publications

María Domínguez-Ruiz

3 joint publications

Ignacio Del Castillo

2 joint publications

Sinziana Stanescu

2 joint publications

Daniel Rodrigues