Valentina Santamaria-Velez

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 18 publications

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Efficacy and safety of patisiran for the treatment of acquired amyloid polyneuropathy in domino liver transplant recipients.

Efficacy and safety of patisiran for the treatment of acquired amyloid polyneuropathy in domino liver transplant recipients.

Journal: Therapeutic advances in neurological disorders

Published: June 23, 2025

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

Safety, Tolerability, and Outcomes of Tafamidis for the Treatment of Acquired Amyloid Neuropathy in Domino Liver Transplant Recipients.

Safety, Tolerability, and Outcomes of Tafamidis for the Treatment of Acquired Amyloid Neuropathy in Domino Liver Transplant Recipients.

Journal: Neurology and therapy

Published: March 03, 2024

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Journal: BMC medical genomics

Published: December 05, 2022

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management.

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management.

Journal: International journal of general medicine

Published: October 21, 2022

Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales.

Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales.

Journal: Journal of clinical medicine

Published: March 04, 2022

Treatment With Diflunisal in Domino Liver Transplant Recipients With Acquired Amyloid Neuropathy.

Treatment With Diflunisal in Domino Liver Transplant Recipients With Acquired Amyloid Neuropathy.

Journal: Transplant international : official journal of the European Society for Organ Transplantation

Published: February 22, 2022

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Journal: Brain : a journal of neurology

Published: November 05, 2021

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Journal: Neurology

Published: May 01, 2021

Epigenome-wide association study of COVID-19 severity with respiratory failure.

Epigenome-wide association study of COVID-19 severity with respiratory failure.

Journal: EBioMedicine

Published: January 05, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026