Gorka Gereñu

iis biogipuzkoa

H指数:15

被引数:684

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics

IF0

2026-04-030

PRE

Mitochondria and Lipid Defects in Hereditary Progranulin-Related Frontotemporal Dementia

Cells

IF5.2

2026-02-010

OAAI

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics

IF0

2025-10-220

PRE

Laura Planas-Serra; Mar Rodríguez-Ruiz; Eric Nathaniel Anderson; Agustí Rodríguez-Palmero; Valentina Vélez-Santamaria; Agatha Schlüter; Edgard Verdura; Gorka Gereñu; Andrés Jiménez-Zúñiga; Alejandro Iñañez; Josefina Casas; Joan Josep Bech; Carolina De La Torre; Juan José Martínez; Montserrat Ruiz; Stéphane Fourcade; Maria Iascone; Romano Tenconi; Kolja Meier; Susann Diegmann; Reagan H.C. Lee; Bakht Beland; Asif Mir; Hossein Darvish; Wendy Chung; Ehsan Ghayoor Karimiani; Suzanne M. Leal; Isabelle Schrauwen; Susanna Öhman; Irma Järvelä; Johanna Granvik; Karit Reinson; Elvira Kurvinen; Katrin Õunap; Annemarie Schwan; Konrad Platzer; Tuğba Kalayci; Shahrashoub Sharifi; G. Christoph Korenke; Henry Houlden; Reza Maroofian; Adolfo López de Munaín; Carlos Casasnovas; Udai Bhan Pandey; Aurora Pujol

A Novel Class of FKBP12 Ligands Rescues Premature Aging Phenotypes Associated with Myotonic Dystrophy Type 1

CELLS

IF5.2

2024-11-220

OAAI

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

ACTA NEUROPATHOLOGICA

IF9.3

2024-09-161

OAAI

Zufiria, Monica; Pikatza-Menoio, Oihane; Garciandia-Arcelus, Maddi; Bengoetxea, Xabier; Jimenez, Andres; Elicegui, Amaia; Levchuk, Maria; Arnold-Garcia, Olatz; Ondaro, Jon; Iruzubieta, Pablo; Rodriguez-Gomez, Laura; Fernandez-Pelayo, Uxoa; Munoz-Oreja, Mikel; Aiastui, Ana; Garcia-Verdugo, Jose Manuel; Herranz-Perez, Vicente; Zulaica, Miren; Poza, Juan Jose; Ruiz-Onandi, Rebeca; Fernandez-Torron, Roberto; Espinal, Juan Bautista; Bonilla, Mario; Lersundi, Ana; Fernandez-Eulate, Gorka; Riancho, Javier; Vallejo-Illarramendi, Ainara; Holt, Ian James; Saenz, Amets; Malfatti, Edoardo; Duguez, Stephanie; Blazquez, Lorea; Lopez de Munain, Adolfo; Gerenu, Gorka; Gil-Bea, Francisco; Alonso-Martin, Sonia

Impaired astrocytic synaptic function by peripheral cholesterol metabolite 27-hydroxycholesterol

FRONTIERS IN CELLULAR NEUROSCIENCE

IF4

2024-04-080

OAAI

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

BRAIN

IF11.7

2024-02-152

OAAI

Iruzubieta, Pablo; Damborenea, Alberto; Ioghen, Mihaela; Bajew, Simon; Fernandez-Torron, Roberto; Topf, Ana; Herrero-Reiriz, Alvaro; Epure, Diana; Vill, Katharina; Hernandez-Lain, Aurelio; Manterola, Maria; Azkargorta, Mikel; Pikatza-Menoio, Oihane; Perez-Fernandez, Laura; Garcia-Puga, Mikel; Gaina, Gisela; Bastian, Alexandra; Streata, Ioana; Walter, Maggie C.; Muller-Felber, Wolfgang; Thiele, Simone; Moragon, Saioa; Bastida-Lertxundi, Nerea; Lopez-Cortajarena, Aitziber; Elortza, Felix; Gerenu, Gorka; Alonso-Martin, Sonia; Straub, Volker; de Sancho, David; Teleanu, Raluca; de Munain, Adolfo Lopez; Blazquez, Lorea

Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

BRAIN

IF11.7

2024-01-182

OAAI

Munoz-Oreja, Mikel; Sandoval, Abigail; Bruland, Ove; Perez-Rodriguez, Diego; Fernandez-Pelayo, Uxoa; de Arbina, Amaia Lopez; Villar-Fernandez, Marina; Hernandez-Eguiazu, Haizea; Hernandez, Ixiar; Park, Yohan; Goicoechea, Leire; Pascual-Frias, Nerea; Garcia-Ruiz, Carmen; Fernandez-Checa, Jose; Marti-Carrera, Itxaso; Gil-Bea, Francisco Javier; Hasan, Mazahir T.; Gegg, Matthew E.; Bredrup, Cecilie; Knappskog, Per-Morten; Gerenu-Lopetegui, Gorka; Varhaug, Kristin N.; Bindoff, Laurence A.; Spinazzola, Antonella; Yoon, Wan Hee; Holt, Ian J.

Senescence plays a role in myotonic dystrophy type 1 br

JCI INSIGHT

IF6.1

2022-10-1010