Andres Ugalde-Ordonez
Santiago De Compostela, GA, Spain
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.
Journal: Journal of neurology
Published: October 30, 2021
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Journal: Journal of neurology
Published: September 07, 2020
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Journal: American journal of human genetics
Published: June 08, 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Journal: American journal of human genetics
Published: December 09, 2018
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Journal: Molecular genetics & genomic medicine
Published: October 18, 2018
The geographic mosaic of Ecuadorian Y-chromosome ancestry.
Journal: Forensic science international. Genetics
Published: June 28, 2017
Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.
Journal: Molecular diagnosis & therapy
Published: March 15, 2017
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
Journal: Clinical genetics
Published: November 22, 2016
Medical genomics: The intricate path from genetic variant identification to clinical interpretation.
Medical genomics: The intricate path from genetic variant identification to clinical interpretation.
Journal: Applied & translational genomics
Published: June 02, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Journal: American journal of human genetics
Published: April 25, 2014
Showing 1-11 of 11
Last Updated: 09/26/2026