Marcos Madruga
Sevilla, AN 41014, Spain
Last Updated: 09/26/2026
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Found 11 publications
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Journal: American journal of medical genetics. Part A
Published: December 02, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Journal: Journal of medical genetics
Published: July 18, 2022
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Journal: Molecular psychiatry
Published: June 15, 2022
Desmin Modulates Muscle Cell Adhesion and Migration.
Journal: Frontiers in cell and developmental biology
Published: September 26, 2021
Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study.
Journal: Neurology
Published: August 04, 2020
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Journal: Parkinsonism & related disorders
Published: February 03, 2020
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Journal: Parkinsonism & related disorders
Published: May 11, 2018
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 20, 2016
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Journal: Orphanet journal of rare diseases
Published: August 25, 2016
Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.
Journal: American journal of medical genetics. Part A
Published: October 10, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Journal: Orphanet journal of rare diseases
Published: June 22, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026