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Cells|March 26, 2025
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular DystrophyAndrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel, et al.
Journal of the Neurological Sciences|November 21, 2024
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithmsGeorgios Koutsis, Chrisoula Kartanou, Zoi Kontogeorgiou, et al.
Aging Cell|October 16, 2024
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegiaNathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, et al.
European Journal of Neurology|January 1, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle crampsAlba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic, et al.
Stem Cell Research|June 29, 2026
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|January 11, 2022
Frequency, Predictors, Etiology, and Outcomes for Deep Intracerebral Hemorrhage without HypertensionLuis Prats-Sánchez, Pablo Iruzubieta, Ana Vesperinas, et al.
HGG Advances|August 28, 2025
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disordersJarosław Dulski, Arun K Boddapati, Barbara Risi, et al.
Annals of Clinical and Translational Neurology|October 7, 2025
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein InsightsNuria Muelas, Pablo Iruzubieta, Alberto Damborenea, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
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