Pia Gallano

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 44 publications

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.

Journal: Journal of neuromuscular diseases

Published: June 18, 2025

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.

Journal: Annals of clinical and translational neurology

Published: April 22, 2025

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Journal: Annals of clinical and translational neurology

Published: February 05, 2025

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Journal: Journal of neurology

Published: September 17, 2024

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Journal: European journal of neurology

Published: June 06, 2024

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.

Journal: Neuropathology and applied neurobiology

Published: May 23, 2024

Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1).

Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1).

Journal: Archivos de bronconeumologia

Published: February 21, 2024

Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).

Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).

Journal: Journal of neurology

Published: August 07, 2023

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.

Journal: Neuromuscular disorders : NMD

Published: May 25, 2023

Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.

Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.

Journal: Neurologia

Published: December 09, 2022

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.

Journal: Neuromuscular disorders : NMD

Published: November 23, 2022

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Journal: Frontiers in genetics

Published: July 20, 2022

Showing 1-12 of 44

Last Updated: 09/26/2026