Pablo Iruzubieta

Montreal Neurological Institute and Hospital — Canada

Neuroscience · Life Sciences

11h-index417citations58works3.72yr avg
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Research Topics

Genetic Neurodegenerative Diseases(23), Mitochondrial Function and Pathology(15), Muscle Physiology and Disorders(11), Hereditary Neurological Disorders(6), Glycogen Storage Diseases and Myoclonus(5)

Publications58 total

Neural damage and inflammation in myotonic dystrophy type 1: Longitudinal analysis of serum NFL, GFAP, and IL-6
Brain Research Bulletin·2025Open Access
‘Subthreshold’ Expansions in Individuals with Otherwise Typical Clinico-Radiological Features of GAA- <i>FGF14</i> -Related Cerebellar Ataxia (SCA27B)
Journal of Movement Disorders·2025Open Access
<i>SNUPN</i> ‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology·2025Open Access
Identification of FGF14 GAA expansions in Polish patients with undiagnosed cerebellar ataxia – a preliminary study
2025Open Access
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French–Canadian cohort
Journal of Neurology·2025· 3 citedOpen Access
545PDM1-hub: building a national hub for myotonic dystrophy type 1 in Spain
Neuromuscular Disorders·2025
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders
Human Genetics and Genomics Advances·2025Open Access
Expanding the clinical–radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign
Journal of Neurology·2025
Repeat Expansions in a Chilean Cohort With Adult-Onset Cerebellar Ataxia
2025Open Access
FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland
Parkinsonism & Related Disorders·2025Open Access
Targeted plasma proteomics uncover novel proteins associated with <i>KIF5A</i> -linked SPG10 and ALS spectrum disorders
2025Open Access
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
Brain·2025· 4 citedOpen Access
Phenotype Description and Lower Pathogenicity Threshold in a Large Cohort of SCA27B (P6-5.028)
Neurology·2025
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy
Cells·2025· 3 citedOpen Access
Importance of tubulin detyrosination in platelet biogenesis
Journal of Thrombosis and Haemostasis·2025Open Access
Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia
Neurology Genetics·2025· 11 citedOpen Access
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy
Preprints.org·2025Open Access
Prevalence of steatotic liver disease and steatohepatitis in a population of healthy workers
Digestive and Liver Disease·2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
Current Neurology and Neuroscience Reports·2025· 13 cited
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
Journal of Neurology·2025
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Frequent Co-authors

David Pellerin(19), Bernard Brais(16), Henry Houlden(15), Matt C. Danzi(14), Adolfo López de Munaín(14), Marie‐Josée Dicaire(11), Stephan Züchner(9), David Campo‐Caballero(9), Roberto Fernández‐Torrón(8), Jon Equiza(8), Matthis Synofzik(7), Stephan Züchner(7), J. Muñoz(7), Sonia Alonso‐Martín(7), Roberta La Piana(6), M. Renaud(6), Inés Albájar(6), Gorka Fernández‐Eulate(6), Concepción Junquera(6), Patricia de la Riva(6)