Sara Bernal

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 40 publications

Methodological insights and clinical outcomes in ALS and FTLD: lessons from the SPIN cohort.

Methodological insights and clinical outcomes in ALS and FTLD: lessons from the SPIN cohort.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association

Published: April 10, 2026

Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.

Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: February 19, 2026

Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.

Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.

Journal: Journal of assisted reproduction and genetics

Published: December 27, 2025

Navigating Schizophrenia Treatment: Challenges in Pharmacogenetic Counseling.

Navigating Schizophrenia Treatment: Challenges in Pharmacogenetic Counseling.

Journal: Spanish journal of psychiatry and mental health

Published: July 29, 2025

Navigating schizophrenia treatment: Challenges in pharmacogenetic counseling.

Navigating schizophrenia treatment: Challenges in pharmacogenetic counseling.

Journal: Spanish journal of psychiatry and mental health

Published: July 29, 2025

Expanding the clinical-radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign.

Expanding the clinical-radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign.

Journal: Journal of neurology

Published: July 21, 2025

Update on Genetic Chorea.

Update on Genetic Chorea.

Journal: European journal of neurology

Published: December 18, 2024

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration.

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration.

Journal: Annals of clinical and translational neurology

Published: December 17, 2024

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: March 18, 2024

Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.

Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.

Journal: Brain : a journal of neurology

Published: October 06, 2023

Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis.

Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis.

Journal: Arthritis research & therapy

Published: September 15, 2023

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

Journal: Journal of neuromuscular diseases

Published: April 11, 2023

Showing 1-12 of 40

Last Updated: 09/26/2026