Loreto Martorell-Sampol

13PUBLICATIONS
113CO-AUTHORS
Neurology and neuromuscular diseasesTransport properties and non-equilibrium processesMolecular evolutionEpigenetics (incl. genome methylation and epigenomics)Infant and child health
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Publications (13)

|Sep 22, 2026
A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.

|Sep 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Gregorio A Nolasco, Mònica Roldán, Yalda Jamshidi

|Jun 12, 2025
Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result.

Anna Rossell, Aleix Soler-Garcia, Loreto Martorell

|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian

|May 09, 2025
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.

Sara Alvaro, Daniel Castillo, Jordi Genovés

|Jan 25, 2025
Pharmacokinetic Analysis of an Isoniazid Suspension Among Spanish Children Under 6 Years of Age.

Antoni Noguera-Julian, Emma Wilhelmi, Maria Cussó

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Frequent Collaborators

5 joint publications

Juan Darío Ortigoza-Escobar

2 joint publications

Bernd Wissinger

2 joint publications

Mercedes Serrano

2 joint publications

Susanne Kohl