Works by Iruzubieta, Pablo

Results: 21

Supporting Evidence of Human Enteric Nervous System Adult Neurogenesis: Presence of Primary Cilia and Adult Neurogenesis Markers.

Published in:

Cellular & Molecular Neurobiology, 2022, v. 42, n. 2, p. 473, doi. 10.1007/s10571-020-01017-8

By:

Iruzubieta, Pablo;
Cantarero, Irene;
Monzón, Marta;
Lahoz, Manuel;
Junquera, Concepción

Publication type:

Article

Additional Cover.

Published in:

Aging Cell, 2025, v. 24, n. 1, p. 1, doi. 10.1111/acel.14480

By:

Launay, Nathalie;
Espinosa‐Alcantud, Maria;
Verdura, Edgard;
Fernández‐Eulate, Gorka;
Ondaro, Jon;
Iruzubieta, Pablo;
Marsal, Maria;
Schlüter, Agatha;
Ruiz, Montserrat;
Fourcade, Stephane;
Rodríguez‐Palmero, Agustí;
Zulaica, Miren;
Sistiaga, Andone;
Labayru, Garazi;
Loza‐Alvarez, Pablo;
Vaquero, Alejandro;
Lopez de Munain, Adolfo;
Pujol, Aurora

Publication type:

Article

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Published in:

Aging Cell, 2025, v. 24, n. 1, p. 1, doi. 10.1111/acel.14355

By:

Launay, Nathalie;
Espinosa‐Alcantud, Maria;
Verdura, Edgard;
Fernández‐Eulate, Gorka;
Ondaro, Jon;
Iruzubieta, Pablo;
Marsal, Maria;
Schlüter, Agatha;
Ruiz, Montserrat;
Fourcade, Stephane;
Rodríguez‐Palmero, Agustí;
Zulaica, Miren;
Sistiaga, Andone;
Labayru, Garazi;
Loza‐Alvarez, Pablo;
Vaquero, Alejandro;
Lopez de Munain, Adolfo;
Pujol, Aurora

Publication type:

Article

Stromal cells of giant cell tumor of bone show primary cilia in giant cell tumor of bone.

Published in:

Microscopy Research & Technique, 2022, v. 85, n. 3, p. 1065, doi. 10.1002/jemt.23976

By:

Castiella, Tomás;
Iruzubieta, Pablo;
Monleón, Eva;
Cardiel, Mª José;
Gómez‐Vallejo, Jesús;
Monzón, Marta;
Junquera, Mª Concepción

Publication type:

Article

Ultrastructural and immunohistochemical study of phenotypic switch in gastrointestinal smooth muscle cells.

Published in:

Microscopy Research & Technique, 2018, v. 81, n. 11, p. 1233, doi. 10.1002/jemt.23126

By:

Luesma, María José;
Cantarero, Irene;
Castiella, Tomás;
Sánchez‐Cano, Ana Isabel;
Iruzubieta, Pablo;
Junquera, Concepción

Publication type:

Article

Primary cilia presence and implications in bladder cancer progression and invasiveness.

Published in:

Histochemistry & Cell Biology, 2021, v. 155, n. 5, p. 547, doi. 10.1007/s00418-021-01965-2

By:

Iruzubieta, Pablo;
Castiella, Tomás;
Monleón, Eva;
Berga, Carmen;
Muñoz, Guillermo;
Junquera, Concepción

Publication type:

Article

Impact on functional outcome of an adaptive Stroke Unit based system of care for patients undergoing endovascular treatment during pandemic times.

Published in:

European Stroke Journal, 2022, v. 7, n. 3, p. 248, doi. 10.1177/23969873221098269

By:

Equiza, Jon;
de la Riva, Patricia;
Angel Larrea, José;
Marta-Enguita, Juan;
Albájar, Inés;
Lüttich, Alex;
Garmendia, Eñaut;
Alonso, Maitane;
de Arce, Ana;
Díez, Noemí;
Gonzalez, Félix;
Iruzubieta, Pablo;
Sulibarria, Naroa;
Puig, Josep;
Martínez-Zabaleta, Maite

Publication type:

Article

Spheresomes are the main extracellular vesicles in low-grade gliomas.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-38084-y

By:

Baselga, Marta;
Iruzubieta, Pablo;
Castiella, Tomás;
Monzón, Marta;
Monleón, Eva;
Berga, Carmen;
Schuhmacher, Alberto J.;
Junquera, Concepción

Publication type:

Article

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36654-8

By:

Bonnet, Céline;
Pellerin, David;
Roth, Virginie;
Clément, Guillemette;
Wandzel, Marion;
Lambert, Laëtitia;
Frismand, Solène;
Douarinou, Marian;
Grosset, Anais;
Bekkour, Ines;
Weber, Frédéric;
Girardier, Florent;
Robin, Clément;
Cacciatore, Stéphanie;
Bronner, Myriam;
Pourié, Carine;
Dreumont, Natacha;
Puisieux, Salomé;
Iruzubieta, Pablo;
Dicaire, Marie-Josée

Publication type:

Article

The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 446, doi. 10.1111/cge.14482

By:

Kartanou, Chrisoula;
Mitrousias, Alexandros;
Pellerin, David;
Kontogeorgiou, Zoi;
Iruzubieta, Pablo;
Dicaire, Marie‐Josée;
Danzi, Matt C.;
Koniari, Chrysoula;
Athanassopoulos, Konstantinos;
Panas, Marios;
Stefanis, Leonidas;
Zuchner, Stephan;
Brais, Bernard;
Houlden, Henry;
Karadima, Georgia;
Koutsis, Georgios

Publication type:

Article

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2867, doi. 10.1093/brain/awae046

By:

Iruzubieta, Pablo;
Damborenea, Alberto;
Ioghen, Mihaela;
Bajew, Simon;
Fernandez-Torrón, Roberto;
Töpf, Ana;
Herrero-Reiriz, Álvaro;
Epure, Diana;
Vill, Katharina;
Hernández-Laín, Aurelio;
Manterola, María;
Azkargorta, Mikel;
Pikatza-Menoio, Oihane;
Pérez-Fernandez, Laura;
García-Puga, Mikel;
Gaina, Gisela;
Bastian, Alexandra;
Streata, Ioana;
Walter, Maggie C;
Müller-Felber, Wolfgang

Publication type:

Article

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

Published in:

European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.16471

By:

Segarra‐Casas, Alba;
Iruzubieta, Pablo;
Kapetanovic, Solange;
Hernández‐Laín, Aurelio;
Jericó, Ivonne;
Fernández‐Torrón, Roberto;
Maneiro, Miren;
Marco‐Moreno, Pablo;
Zelaya‐Huerta, M. Victoria;
Rodríguez‐Santiago, Benjamín;
Calafell, Francesc;
Töpf, Ana;
Straub, Volker;
Vallejo‐Illarramendi, Ainara;
López de Munain, Adolfo;
Gallano, Pia;
Gonzalez‐Quereda, Lidia

Publication type:

Article

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.

Published in:

European Journal of Neurology, 2023, v. 30, n. 12, p. 3828, doi. 10.1111/ene.16039

By:

Iruzubieta, Pablo;
Pellerin, David;
Bergareche, Alberto;
Albajar, Inés;
Mondragón, Elisabet;
Vinagre, Ana;
Fernández‐Torrón, Roberto;
Moreno, Fermín;
Equiza, Jon;
Campo‐Caballero, David;
Poza, Juan José;
Ruibal, Marta;
Formica, Alessandro;
Dicaire, Marie‐Josée;
Danzi, Matt C.;
Zuchner, Stephan;
Croitoru, Ioana;
Ruiz, Montserrat;
Schlüter, Agatha;
Casasnovas, Carlos

Publication type:

Article

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome.

Published in:

Movement Disorders, 2024, v. 39, n. 7, p. 1246, doi. 10.1002/mds.29885

By:

Albajar, Ines;
Iruzubieta, Pablo;
Barandiaran, Myriam;
Alves, Patricia;
Pujol, Aurora;
Verdura, Edgard;
Equiza, Jon;
Urreta, Iratxe;
Ruiz‐Martínez, Javier;
Maneiro, Miren;
Fernandez‐Torron, Roberto;
Poza, Juan Jose;
Mondragón, Elisabet;
de Munain, Adolfo Lopez

Publication type:

Article

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Published in:

Movement Disorders, 2024, v. 39, n. 1, p. 209, doi. 10.1002/mds.29680

By:

Quartesan, Ilaria;
Vegezzi, Elisa;
Currò, Riccardo;
Heslegrave, Amanda;
Pisciotta, Chiara;
Iruzubieta, Pablo;
Salvalaggio, Alessandro;
Fernández‐Eulate, Gorka;
Dominik, Natalia;
Rugginini, Bianca;
Manini, Arianna;
Abati, Elena;
Facchini, Stefano;
Manso, Katarina;
Albajar, Ines;
Laban, Rhiannon;
Rossor, Alexander M.;
Pichiecchio, Anna;
Cosentino, Giuseppe;
Saveri, Paola

Publication type:

Article

Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".

Published in:

Movement Disorders, 2023, v. 38, n. 8, p. 1575, doi. 10.1002/mds.29552

By:

Pellerin, David;
Iruzubieta, Pablo;
Tekgül, Şeyma;
Danzi, Matt C.;
Ashton, Catherine;
Dicaire, Marie‐Josée;
Wandzel, Marion;
Roth, Virginie;
Lamont, Phillipa J.;
Bonnet, Céline;
Renaud, Mathilde;
Synofzik, Matthis;
Zuchner, Stephan;
Brais, Bernard;
Başak, Nazlı A.;
Houlden, Henry

Publication type:

Article

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy.

Published in:

Cells (2073-4409), 2025, v. 14, n. 6, p. 446, doi. 10.3390/cells14060446

By:

Valls, Andrea;
Ruiz-Roldán, Cristina;
Immanuel, Jenita;
Alonso-Martín, Sonia;
Gallardo, Eduard;
Fernández-Torrón, Roberto;
Bonilla, Mario;
Lersundi, Ana;
Hernández-Laín, Aurelio;
Domínguez-González, Cristina;
Vílchez, Juan Jesús;
Iruzubieta, Pablo;
López de Munain, Adolfo;
Sáenz, Amets

Publication type:

Article

Hedgehog signalling pathway activation in gastrointestinal stromal tumours is mediated by primary cilia.

Published in:

Gastric Cancer, 2020, v. 23, n. 1, p. 64, doi. 10.1007/s10120-019-00984-2

By:

Iruzubieta, Pablo;
Monzón, Marta;
Castiella, Tomás;
Ramírez, Teresa;
Junquera, Concepción

Publication type:

Article

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

Published in:

Journal of Neurology, 2025, v. 272, n. 2, p. 1, doi. 10.1007/s00415-025-12893-9

By:

Iruzubieta, Pablo;
Verdú-Díaz, José;
Töpf, Ana;
Luce, Leonela;
Claeys, Kristl G.;
De Ridder, Willem;
González-Quereda, Lidia;
de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
Poza, Juan José;
Zulaica, Miren;
de Jonghe, Peter;
Duff, Jennifer;
Mroczek, Magdalena;
Martín-Jiménez, Paloma;
Hernández-Laín, Aurelio;
Domínguez-González, Cristina;
Baets, Jonathan;
Gallano, Pia;
Díaz-Manera, Jordi;
Straub, Volker

Publication type:

Article

Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.

Published in:

Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02794-y

By:

Zufiría, Mónica;
Pikatza-Menoio, Oihane;
Garciandia-Arcelus, Maddi;
Bengoetxea, Xabier;
Jiménez, Andrés;
Elicegui, Amaia;
Levchuk, María;
Arnold-García, Olatz;
Ondaro, Jon;
Iruzubieta, Pablo;
Rodríguez-Gómez, Laura;
Fernández-Pelayo, Uxoa;
Muñoz-Oreja, Mikel;
Aiastui, Ana;
García-Verdugo, José Manuel;
Herranz-Pérez, Vicente;
Zulaica, Miren;
Poza, Juan José;
Ruiz-Onandi, Rebeca;
Fernández-Torrón, Roberto

Publication type:

Article

Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.

Published in:

Current Neurology & Neuroscience Reports, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s11910-024-01400-8

By:

Pellerin, David;
Iruzubieta, Pablo;
Xu, Isaac R. L.;
Danzi, Matt C.;
Cortese, Andrea;
Synofzik, Matthis;
Houlden, Henry;
Zuchner, Stephan;
Brais, Bernard

Publication type:

Article