Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
2023 · Scientific Reports · 69 citations
https://doi.org/10.1038/s41598-023-36654-8
P
Pablo Iruzubieta
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Pablo Iruzubieta is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology & Muscle Physiology and Disorders. The author has an h-index of 11, co-authored 50 publications.
ORCID: 0000-0003-0331-6222Papers by this author
worksHedgehog signalling pathway activation in gastrointestinal stromal tumours is mediated by primary cilia
2019 · Gastric Cancer · 18 citations
https://doi.org/10.1007/s10120-019-00984-2
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
2025 · Current Neurology and Neuroscience Reports · 13 citations
https://doi.org/10.1007/s11910-024-01400-8
Spheresomes are the main extracellular vesicles in low-grade gliomas
2023 · Scientific Reports · 10 citations
https://doi.org/10.1038/s41598-023-38084-y
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
2024 · EBioMedicine · 8 citations
https://doi.org/10.1016/j.ebiom.2024.105297
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy
2025 · Cells · 3 citations
https://doi.org/10.3390/cells14060446
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