Eduardo F. Tizzano

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 120 publications

Congenital muscular dystrophy phenotypes

Congenital muscular dystrophy phenotypes

Journal: Medicina
Published: August 27, 2026

Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics

Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics

Journal: Medicina
Published: August 27, 2026

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: Nature communications
Published: February 02, 2026

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Journal: EClinicalMedicine
Published: December 17, 2025

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 06, 2025

Lymphoid Organ Architecture and Hematopoiesis Disruption in Spinal Muscular Atrophy: Therapeutic Rescue by SMN Restoration.

Lymphoid Organ Architecture and Hematopoiesis Disruption in Spinal Muscular Atrophy: Therapeutic Rescue by SMN Restoration.

Journal: International journal of molecular sciences
Published: December 03, 2025

Response to Saleem et al.

Response to Saleem et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 03, 2025

Protocol for a prospective observational cohort study to assess clinical applications of expanded noninvasive prenatal testing (NIPT) in pregnancies with placental dysfunction.

Protocol for a prospective observational cohort study to assess clinical applications of expanded noninvasive prenatal testing (NIPT) in pregnancies with placental dysfunction.

Journal: PloS one
Published: October 18, 2025

Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.

Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.

Journal: Prenatal diagnosis
Published: October 14, 2025

Neuromuscular diseases in pediatrics with specific treatments

Neuromuscular diseases in pediatrics with specific treatments

Journal: Medicina
Published: October 02, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Showing 1-12 of 120

Last Updated: 09/26/2026