Publications by authors named "Amets Saenz"

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Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.
Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel, Pilar Camaño, Juan José Poza

J Neuromuscul Dis· September 2025

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The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.
Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel, Sonia Alonso-Martín, Eduard Gallardo

Cells· March 2025

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Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
Mónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus, Xabier Bengoetxea, Andrés Jiménez

Acta Neuropathol· September 2024

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The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
Andrea Valls, Gerardo Gutiérrez-Gutiérrez, Agustín Martínez, Cristina Ruiz-Roldán, Pilar Camaño

Muscle Nerve· April 2024

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Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis.
Eva P Cuevas, Loreto Martinez-Gonzalez, Clara Gordillo, Carlota Tosat-Bitrián, Carmen Pérez de la Lastra

Neurobiol Dis· March 2024

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Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.
Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui

Orphanet J Rare Dis· October 2023

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Senescence plays a role in myotonic dystrophy type 1.
Mikel García-Puga, Ander Saenz-Antoñanzas, Gorka Gerenu, Alex Arrieta-Legorburu, Roberto Fernández-Torrón, Amets Saenz

JCI Insight· October 2022

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Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
Anabel Rico, Garazi Guembelzu, Valle Palomo, Ana Martínez, Ana Aiastui

Int J Mol Sci· July 2021

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Genotype-phenotype correlations in recessive titinopathies.
Marco Savarese, Anna Vihola, Emily C Oates, Rita Barresi, Chiara Fiorillo

Genet Med· December 2020

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Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Leire Casas-Fraile, Frederique M Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen

Orphanet J Rare Dis· May 2020

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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with Mutations.
Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain

Int J Mol Sci· September 2019

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Copy number variation analysis increases the diagnostic yield in muscle diseases.
Salla Välipakka, Marco Savarese, Mridul Johari, Lydia Sagath, Meharji Arumilli

Neurol Genet· December 2017

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FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Oihane Jaka, Leire Casas-Fraile, Margarita Azpitarte, Ana Aiastui, Adolfo López de Munain

Expert Rev Mol Med· March 2017

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Dominant LGMD2A: alternative diagnosis or hidden digenism?
Amets Sáenz, Adolfo López de Munain

Brain· February 2017

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Costamere proteins and their involvement in myopathic processes.
Oihane Jaka, Leire Casas-Fraile, Adolfo López de Munain, Amets Sáenz

Expert Rev Mol Med· June 2015

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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
Oihane Jaka, Margarita Azpitarte, Coro Paisán-Ruiz, Miren Zulaika, Leire Casas-Fraile

Muscle Nerve· September 2014

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C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
Oihane Jaka, Irina Kramerova, Margarita Azpitarte, Adolfo López de Munain, Melissa Spencer

Neurogenetics· November 2012

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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
Amets Sáenz, Yasuko Ono, Hiroyuki Sorimachi, Maria Goicoechea, France Leturcq

Muscle Nerve· November 2011

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Limb-girdle muscular dystrophy 2A.
Eduard Gallardo, Amets Saenz, Isabel Illa

Handb Clin Neurol· July 2011

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Gene expression profiling in limb-girdle muscular dystrophy 2A.
Amets Sáenz, Margarita Azpitarte, Rubén Armañanzas, France Leturcq, Ainhoa Alzualde

PLoS One· February 2009

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Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.
Adolfo López de Munain, Ainhoa Alzualde, Ana Gorostidi, David Otaegui, Javier Ruiz-Martínez

Biol Psychiatry· May 2008

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[DNA arrays: a general overview and specific applications].
Amets Sáenz, Adolfo López de Munain

Med Clin (Barc)· April 2008

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Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
Javier Simón-Sánchez, José-Félix Martí-Massó, José Vicente Sánchez-Mut, Coro Paisán-Ruiz, Angel Martínez-Gil

Mov Disord· November 2006

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Familial Parkinson's disease: clinical and genetic analysis of four Basque families.
Coro Paisàn-Ruìz, Amets Sàenz, Adolfo Lòpez de Munain, Itxaso Martì, Angel Martìnez Gil

Ann Neurol· March 2005

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Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Eugenio Mercuri, Kate Bushby, Enzo Ricci, Daniel Birchall, Marika Pane

Neuromuscul Disord· February 2005

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