Personal information

Other IDs

ResearcherID: E-4761-2019
Scopus Author ID: 55535266600

Activities

Collapse all

Works (50 of 51)

Items per page:
Page 1 of 2

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

Cells
2025-03 | Journal article | Author
DOI: 10.3390/cells14060446
Contributors: Andrea Valls; Cristina Ruiz Roldán; Jenita Immanuel; Sonia Alonso-Martin; Eduard Gallardo; Roberto Fernández-Torrón; Mario Bonilla; Ana Lersundi; Aurelio Hernández-Laín; C. Domínguez-Gonzalez et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute
grade
Preferred source (of 2)‎

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

Acta Neuropathologica
2024-09-16 | Journal article | Author
DOI: 10.1007/s00401-024-02794-y
Part of ISSN: 1432-0533
Contributors: Monica Zufiria Garcia; Oihane Pikatza Menoio; Maddi Garciandia-Arcelus; 0000-0001-8651-6320; Andrés Jiménez Zúñiga; Amaia Elicegui; Mariya Levchuk; Olatz Arnold-Garcia; Jon Ondaro; Pablo Iruzubieta et al.
Source: Self-asserted source
Amets Saenz

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy

Muscle & Nerve
2024-04 | Journal article
DOI: 10.1002/mus.28045
Contributors: Andrea Valls; Gerardo Gutiérrez‐Gutiérrez; Agustín Martínez; Cristina Ruiz‐Roldán; Pilar Camaño; Adolfo López de Munain; Amets Sáenz
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis

Neurobiology of Disease
2024-03 | Journal article
DOI: 10.1016/j.nbd.2024.106430
Part of ISSN: 0969-9961
Contributors: Eva P. Cuevas; Loreto Martinez-Gonzalez; Clara Gordillo; Carlota Tosat-Bitrián; Carmen Pérez de la Lastra; Amets Sáenz; Carmen Gil; Valle Palomo; Ángeles Martin-Requero; Ana Martinez
Source: Self-asserted source
Amets Saenz

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Orphanet Journal of Rare Diseases
2023-10-10 | Journal article
DOI: 10.1186/s13023-023-02873-5
Contributors: Anabel Rico; Andrea Valls; Garazi Guembelzu; Margarita Azpitarte; Ana Aiastui; Mónica Zufiria; Oihane Jaka; Adolfo López de Munain; Amets Sáenz
Source: check_circle
Crossref

Senescence plays a role in Myotonic Dystrophy type 1

JCI Insight
2022-08-30 | Journal article
DOI: 10.1172/jci.insight.159357
Part of ISSN: 2379-3708
Contributors: Amets Saenz
Source: Self-asserted source
Amets Saenz
grade
Preferred source (of 2)‎

Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related

International Journal of Molecular Sciences
2021-07-08 | Journal article
DOI: 10.3390/ijms22147367
Contributors: Anabel Rico; Garazi Guembelzu; Valle Palomo; Ana Martínez; Ana Aiastui; Leire Casas-Fraile; Andrea Valls; Adolfo López de Munain; Amets Sáenz
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Genotype-phenotype correlations in recessive titinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics
2020-08-11 | Journal article
DOI: 10.1038/s41436-020-0914-2
PMID: 32778822
Source: Self-asserted source
Amets Saenz

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.

Orphanet journal of rare diseases
2020-05-24 | Journal article
DOI: 10.1186/s13023-020-01372-1
PMID: 32448375
PMC: PMC7245871
Source: Self-asserted source
Amets Saenz

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

International Journal of Molecular Sciences
2019-09-13 | Journal article
DOI: 10.3390/ijms20184548
Part of ISSN: 1422-0067
Source: Self-asserted source
Amets Saenz

233rd ENMC International Workshop:

Neuromuscular Disorders
2018-06 | Journal article
DOI: 10.1016/j.nmd.2018.03.010
Part of ISSN: 0960-8966
Source: Self-asserted source
Amets Saenz
grade
Preferred source (of 2)‎

Dominant LGMD2A: Alternative diagnosis or hidden digenism?

Brain
2017 | Journal article
DOI: 10.1093/brain/aww281
EID:

2-s2.0-85014745087
Contributors: Sáenz, A.; De Munain, A.L.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway

Expert Reviews in Molecular Medicine
2017 | Journal article
DOI: 10.1017/erm.2017.3
EID:

2-s2.0-85015685832
Contributors: Jaka, O.; Casas-Fraile, L.; Azpitarte, M.; Aiastui, A.; López de Munain, A.; Sáenz, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Neurology. Genetics
2017-12-11 | Journal article
DOI: 10.1212/nxg.0000000000000204
PMID: 30238059
PMC: PMC6140371
Source: Self-asserted source
Amets Saenz

Natural history of LGMD2A for delineating outcome measures in clinical trials.

Annals of clinical and translational neurology
2016-03-04 | Journal article
DOI: 10.1002/acn3.287
PMID: 27081656
PMC: PMC4818744
Source: Self-asserted source
Amets Saenz

Costamere proteins and their involvement in myopathic processes

Expert Reviews in Molecular Medicine
2015 | Journal article
DOI: 10.1017/erm.2015.9
EID:

2-s2.0-84961045285
Contributors: Jaka, O.; Casas-Fraile, L.; López De Munain, A.; Sáenz, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Muscle and Nerve
2014 | Journal article
DOI: 10.1002/mus.24263
EID:

2-s2.0-84907424227
Contributors: Jaka, O.; Azpitarte, M.; Paisán-Ruiz, C.; Zulaika, M.; Casas-Fraile, L.; Sanz, R.; Trevisiol, N.; Levy, N.; Bartoli, M.; Krahn, M. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

C3KO mouse expression analysis: Downregulation of the muscular dystrophy Ky protein and alterations in muscle aging

Neurogenetics
2012 | Journal article
DOI: 10.1007/s10048-012-0336-7
EID:

2-s2.0-84868301434
Contributors: Jaka, O.; Kramerova, I.; Azpitarte, M.; De Munain, A.L.; Spencer, M.; Sáenz, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

Human Molecular Genetics
2012 | Journal article
DOI: 10.1093/hmg/dds144
EID:

2-s2.0-84863992929
Contributors: Kramerova, I.; Kudryashova, E.; Ermolova, N.; Saenz, A.; Jaka, O.; López de munain, A.; Spencer, M.J.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Muscle and Nerve
2011 | Journal article
DOI: 10.1002/mus.22194
EID:

2-s2.0-80054847069
Contributors: Sáenz, A.; Ono, Y.; Sorimachi, H.; Goicoechea, M.; Leturcq, F.; Blázquez, L.; García-Bragado, F.; Marina, A.; Poza, J.J.; Azpitarte, M. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?

Clinical Genetics
2011 | Journal article
DOI: 10.1111/j.1399-0004.2010.01620.x
EID:

2-s2.0-80052623697
Contributors: Krahn, M.; Goicoechea, M.; Hanisch, F.; Groen, E.; Bartoli, M.; Pécheux, C.; Garcia-Bragado, F.; Leturcq, F.; Jeannet, P.-Y.; Lobrinus, J.A. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Limb-girdle muscular dystrophy 2A

Handbook of Clinical Neurology
2011 | Book
DOI: 10.1016/B978-0-08-045031-5.00006-2
EID:

2-s2.0-79954476376
Contributors: Gallardo, E.; Saenz, A.; Illa, I.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

ADN arrays: A general overview and specific applications,Matrices de ADN: Visión general y aplicaciones específicas

Medicina Clinica
2008 | Journal article
DOI: 10.1157/13119504
EID:

2-s2.0-42549090130
Contributors: Sáenz, A.; De Munain, A.L.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Characterization of novel CAPN3 isoforms in white blood cells: An alternative approach for limb-girdle muscular dystrophy 2A diagnosis

Neurogenetics
2008 | Journal article
DOI: 10.1007/s10048-008-0129-1
EID:

2-s2.0-46149103138
Contributors: Blázquez, L.; Azpitarte, M.; Sáenz, A.; Goicoechea, M.; Otaegui, D.; Ferrer, X.; Illa, I.; Gutierrez-Rivas, E.; Vilchez, J.J.; López De Munain, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Gene expression profiling in limb-girdle muscular dystrophy 2A

PLoS ONE
2008 | Journal article
DOI: 10.1371/journal.pone.0003750
EID:

2-s2.0-56649091065
Contributors: Sáenz, A.; Azpitarte, M.; Armañanzas, R.; Leturcq, F.; Alzualde, A.; Inza, I.; García-Bragado, F.; De la Herran, G.; Corcuera, J.; Cabello, A. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

Biological Psychiatry
2008 | Journal article
DOI: 10.1016/j.biopsych.2007.08.015
EID:

2-s2.0-42949138769
Contributors: López de Munain, A.; Alzualde, A.; Gorostidi, A.; Otaegui, D.; Ruiz-Martínez, J.; Indakoetxea, B.; Ferrer, I.; Pérez-Tur, J.; Sáenz, A.; Bergareche, A. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

Neurobiology of Aging
2007 | Journal article
DOI: 10.1016/j.neurobiolaging.2006.08.009
EID:

2-s2.0-35148867570
Contributors: Blázquez, L.; De Juan, D.; Ruiz-Martínez, J.; Emparanza, J.I.; Sáenz, A.; Otaegui, D.; Sistiaga, A.; Martínez-Lage, P.; Lamet, I.; Samaranch, L. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor

Multiple Sclerosis
2007 | Journal article
DOI: 10.1177/1352458506070454
EID:

2-s2.0-34249081073
Contributors: Otaegui, D.; Saenz, A.; Ruíz-Martínez, J.; Olaskoaga, J.; López de Munain, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Apolipoprotein E ε4 allele in familial and sporadic Parkinson's disease

Neuroscience Letters
2006 | Journal article
DOI: 10.1016/j.neulet.2006.07.037
EID:

2-s2.0-33748167831
Contributors: Blázquez, L.; Otaegui, D.; Sáenz, A.; Paisán-Ruiz, C.; Emparanza, J.I.; Ruiz-Martinez, J.; Moreno, F.; Martí-Massó, J.F.; de Munain, A.L.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

Multiple Sclerosis
2006 | Journal article
DOI: 10.1191/135248506ms1314sr
EID:

2-s2.0-33746537147
Contributors: Otaegui, D.; Sáenz, A.; Camaño, P.; Blázquez, L.; Goicoechea, M.; Ruíz-Martínez, J.; Olaskoaga, J.; Emparanza, J.A.; López de Munain, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the Basques

Movement Disorders
2006 | Journal article
DOI: 10.1002/mds.21114
EID:

2-s2.0-33845204840
Contributors: Simón-Sánchez, J.; Martí-Massó, J.-F.; Sánchez-Mut, J.V.; Paisán-Ruiz, C.; Martínez-Gil, A.; Ruiz-Martínez, J.; Sáenz, A.; Singleton, A.B.; Lopéz de Munain, A.; Pérez-Tur, J.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Familial Parkinson's disease: Clinical and genetic analysis of four Basque families

Annals of Neurology
2005 | Journal article
DOI: 10.1002/ana.20391
EID:

2-s2.0-14844325314
Contributors: Paisàn-Ruìz, C.; Sàenz, A.; Lòpez De Munain, A.; Martì, I.; Martìnez Gil, A.; Martì-Massò, J.F.; Pèrez-Tur, J.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene

Brain
2005 | Journal article
DOI: 10.1093/brain/awh408
EID:

2-s2.0-20144389936
Contributors: Sáenz, A.; Leturcq, F.; Cobo, A.M.; Poza, J.J.; Ferrer, X.; Otaegui, D.; Camaño, P.; Urtasun, M.; Vílchez, J.; Gutiérrez-Rivas, E. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Neuromuscular Disorders
2005 | Journal article
DOI: 10.1016/j.nmd.2004.10.008
EID:

2-s2.0-13444302401
Contributors: Mercuri, E.; Bushby, K.; Ricci, E.; Birchall, D.; Pane, M.; Kinali, M.; Allsop, J.; Nigro, V.; Sáenz, A.; Nascimbeni, A. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

A common haplotype associated with the Basque 2362AG → TCATCT mutation in the muscular calpain-3 gene

Human Biology
2004 | Journal article
EID:

2-s2.0-13844278203
Contributors: Cobo, A.M.; Sáenz, A.; Poza, J.J.; Urtasun, M.; Indakoetxea, B.; Urtizberea, J.A.; De Munain, A.L.; Calafell, F.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Mitochondrial haplogroups in Basque multiple sclerosis patients

Multiple Sclerosis
2004 | Journal article
DOI: 10.1191/1352458504ms1069oa
EID:

2-s2.0-4444369952
Contributors: Otaegui, D.; Sáenz, A.; Martínez-Zabaleta, M.; Villoslada, P.; Fernández-Manchola, I.; Álvarez de Arcaya, A.; Emparanza, J.I.; López de Munain, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Mitochondrial polymporphisms in Parkinson's Disease

Neuroscience Letters
2004 | Journal article
DOI: 10.1016/j.neulet.2004.08.012
EID:

2-s2.0-5644243261
Contributors: Otaegui, D.; Paisán, C.; Sáenz, A.; Martí, I.; Ribate, M.; Martí-Massó, J.F.; Pérez-Tur, J.; López De Munain, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Neuron
2004-11-01 | Journal article
DOI: 10.1016/j.neuron.2004.10.023
PMID: 15541308
Source: Self-asserted source
Amets Saenz

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

Human Molecular Genetics
2002 | Journal article
EID:

2-s2.0-18344363561
Contributors: Morante-Redolat, J.M.; Gorostidi-Pagola, A.; Piquer-Sirerol, S.; Sáenz, A.; Poza, J.J.; Galán, J.; Gesk, S.; Sarafidou, T.; Mautner, V.-F.; Binelli, S. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Myopathy with lobulated muscle fibers: Evidence for heterogeneous etiology and clinical presentation

Neuromuscular Disorders
2002 | Journal article
DOI: 10.1016/S0960-8966(01)00245-0
EID:

2-s2.0-0036133136
Contributors: Figarella-Branger, D.; El-Dassouki, M.; Saenz, A.; Cobo, A.M.; Malzac, P.; Tong, S.; Cassotte, E.; Azulay, J.P.; Pouget, J.; Pellissier, J.F.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q

Annals of Neurology
1999 | Journal article
DOI: 10.1002/1531-8249(199902)45:2<182::AID-ANA8>3.0.CO;2-G
EID:

2-s2.0-0345003726
Contributors: Poza, J.J.; Sáenz, A.; Martínez-Gil, A.; Cheron, N.; Cobo, A.M.; Urtasun, M.; Martí-Massó, J.F.; Grid, D.; Beckmann, J.S.; Prud'homme, J.F. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

Archives of Neurology
1999 | Journal article
DOI: 10.1001/archneur.56.8.1004
EID:

2-s2.0-0344117156
Contributors: Sáenz, A.; Galán, J.; Caloustian, C.; Lorenzo, F.; Márquez, C.; Rodríguez, N.; Jiménez, M.D.; Poza, J.J.; Cobo, A.M.; Grid, D. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Calpain deficiency in Spain and Aquitania

Acta Myologica
1999 | Journal article
EID:

2-s2.0-0032806285
Contributors: Saenz, A.; De Diego, C.; Cobo, A.M.; Lasa, A.; Urtasun, M.; Del Rio, E.; Rodriguez, M.J.; Poza, J.J.; Coll, J.; Colomer, J. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Calpainopathy - A survey of mutations and polymorphisms

American Journal of Human Genetics
1999 | Journal article
DOI: 10.1086/302426
EID:

2-s2.0-0033361883
Contributors: Richard, I.; Roudaut, C.; Saenz, A.; Pogue, R.; Grimbergen, J.E.M.A.; Anderson, L.V.B.; Beley, C.; Cobo, A.-M.; De Diego, C.; Eymard, B. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)

Brain
1998 | Journal article
DOI: 10.1093/brain/121.9.1735
EID:

2-s2.0-0031691228
Contributors: Urtasun, M.; Sáenz, A.; Roudaut, C.; Poza, J.J.; Urtizberea, J.A.; Cobo, A.M.; Richard, I.; García Bragado, F.; Leturcq, F.; Kaplan, J.C. et al.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Muscular dystrophy due to a mutation in the gene of alfa-sarcoglycane subunit of dystrophin associated protein complex,Distrofia muscular por déficit de la subunidad alfa-sarcoglucano del complejo de proteínas relacionadas con la distrofina

Medicina Clinica
1998 | Journal article
EID:

2-s2.0-2542543693
Contributors: Urtasun, M.; Poza, J.J.; Gallano, P.; Lasa, A.; Sáenz, A.; Cobo, A.M.; Leturcq, F.; López De Munain, A.; García-Bragado, F.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

Genetic Epidemiology
1996 | Journal article
DOI: 10.1002/(SICI)1098-2272(1996)13:5<483::AID-GEPI4>3.0.CO;2-3
EID:

2-s2.0-10244229687
Contributors: López De Munain, A.; Cobo, A.M.; Sáenz, A.; Blanco, A.; Poza, J.J.; Martorell, L.; Martí-Massó, J.F.; Baiget, M.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Frequency of myotonic dystrophy gene carriers in cataract patients

Journal of Medical Genetics
1996 | Journal article
EID:

2-s2.0-0030047509
Contributors: Cobo, A.M.; Poza, J.J.; Blanco, A.; López De Munain, A.; Saénz, A.; Azpitarte, M.; Marchessi, J.; Marti Massó, J.F.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Genes, herencia y enfermedad. Revisión crítica de los conceptos de genotipo y fenotipo

Revista de Neurologia
1996 | Journal article
EID:

2-s2.0-18244421607
Contributors: Sáenz, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier

Diseases due to instability of the DNA,ENFERMEDADES POR INESTABILIDAD DEL ADN

Neurologia
1995 | Journal article
EID:

2-s2.0-0029557266
Contributors: Lopez De Muniain, A.; Cobo, A.M.; Poza, J.J.; Saenz, A.
Source: Self-asserted source
Amets Saenz via Scopus - Elsevier
Items per page:
Page 1 of 2
How many people are using ORCID?