Ainara Salazar-Villacorta

11PUBLICATIONS
165CO-AUTHORS
Gene and molecular therapyHaematological tumoursNeurogeneticsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (11)

|Oct 08, 2026
KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.

|Apr 29, 2026
Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

|Apr 17, 2026
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Dec 12, 2025
Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.

Yonika A Larasati, Moritz Thiel, Ainara Salazar-Villacorta

|Dec 01, 2025
SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Henriette V F Senghor, Raúl Domínguez Rubio, Carla Marco

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Frequent Collaborators

5 joint publications

Henry Houlden

4 joint publications

Stephanie Efthymiou

4 joint publications

Tobias B Haack

3 joint publications

Manju A Kurian