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Scopus Author ID: 57201097830

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Employment (1)

Hospital Universitari i Politècnic La Fe: Valencia, Valenciana, ES

Post-Doc (Neuromuscular)
Employment
Source: Self-asserted source
Pilar Marti

Education and qualifications (2)

Universitat de Valencia Facultat de Ciències Biològiques: Burjassot, Comunitat Valenciana, ES

2008-09-01 to 2016-01-15 | PhD (Neurociencias)
Education
Source: Self-asserted source
Pilar Marti

Universitat de Valencia Facultat de Ciències Biològiques: Burjassot, Comunitat Valenciana, ES

2008-06 | Licenciado en Biologia
Education
Source: Self-asserted source
Pilar Marti

Works (16)

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies

Journal of Neurology
2025-01 | Journal article
DOI: 10.1007/s00415-024-12821-3
Part of ISSN: 0340-5354
Part of ISSN: 1432-1459
Contributors: Nuria Muelas Gómez; Lidón Carretero-Vilarroig; Pilar Martí; Inmaculada Azorín; Marina Frasquet; Javier Poyatos-García; Sofía Portela; Laura Martínez-Vicente; Herminia Argente-Escrig; Rafael Sivera et al.
Source: Self-asserted source
Pilar Marti

Asymptomatic HyperCKemia in the Pediatric Population

Neurology
2025-01-14 | Journal article
DOI: 10.1212/WNL.0000000000210116
Contributors: Pilar Marti; Inmaculada Pitarch-Castellano; Nuria Muelas; Inmaculada Azorín; Lorena Fores; Roger Vilchez; Teresa Sevilla; Juan Jesus Vilchez
Source: check_circle
Crossref

ITPR3‐associated neuropathy: Report of a further family with adult onset intermediate Charcot–Marie–Tooth disease

European Journal of Neurology
2024-12 | Journal article
DOI: 10.1111/ene.16485
Contributors: Javier Cabello‐Murgui; Jesús Jiménez‐Jiménez; Juan J Vílchez; Inmaculada Azorín; Pilar Martí‐Martínez; Elvira Millet; Vincenzo Lupo; Teresa Sevilla; Rafael Sivera
Source: check_circle
Crossref

Insights into phenotypic variability caused by <i>GARS1</i> pathogenic variants

European Journal of Neurology
2024-10 | Journal article
DOI: 10.1111/ene.16416
Part of ISSN: 1351-5101
Part of ISSN: 1468-1331
Contributors: Jesús Jiménez Jiménez; Irene Navarrete; Inmaculada Azorín; Pilar Martí; Roger Vílchez; Nuria Muelas Gómez; Javier Cabello‐Murgui; Elvira Millet; Juan Francisco Vázquez Costa; Juan J Vilchez et al.
Source: Self-asserted source
Pilar Marti

Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial and ocular involvement

Journal of Medical Genetics
2024-08-28 | Journal article
DOI: 10.1136/jmg-2024-109970
Part of ISSN: 0022-2593
Part of ISSN: 1468-6244
Contributors: Mridul Johari; Ana Topf; Chiara Folland; Jennifer Duff; Lein Dofash; Pilar Marti; Thomas Robertson; Juan Vilchez; Anita Cairns; Elizabeth Harris et al.
Source: Self-asserted source
Pilar Marti

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Nature genetics
2024-03-01 | Journal article | Author
DOI: 10.1038/s41588-023-01651-0
PMID: 38429495
Contributors: Ana Topf; Daniel Cox; Zaharieva IT; Di Leo V; Jaakko Sarparanta; Per Harald Jonson; Ian Sealy; Smolnikov A; Richard J. White; Vihola A et al.
Source: Self-asserted source
Pilar Marti

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Annals of Neurology
2022-11 | Journal article
DOI: 10.1002/ana.26461
Contributors: Javier Poyatos‐García; Pilar Martí; Alessandro Liquori; Nuria Muelas; Inmaculada Pitarch; Luis Martinez‐Dolz; Benjamin Rodríguez; Lidia Gonzalez‐Quereda; Maria Damiá; Elena Aller et al.
Source: check_circle
Crossref
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Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection

Frontiers in Cell and Developmental Biology
2022-05-13 | Journal article
DOI: 10.3389/fcell.2022.839813
Part of ISSN: 2296-634X
Source: Self-asserted source
Pilar Marti
grade
Preferred source (of 2)‎

Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

SSRN Electronic Journal
2021 | Journal article
DOI: 10.2139/ssrn.3801723
Part of ISSN: 1556-5068
Source: Self-asserted source
Pilar Marti

A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.

European journal of neurology
2020-11-05 | Journal article
DOI: 10.1111/ene.14630
PMID: 33151602
Source: Self-asserted source
Pilar Marti
grade
Preferred source (of 2)‎

HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe

Journal of the Neurological Sciences
2020-07 | Journal article
DOI: 10.1016/j.jns.2020.116875
Part of ISSN: 0022-510X
Source: Self-asserted source
Pilar Marti
grade
Preferred source (of 2)‎

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics in medicine : official journal of the American College of Medical Genetics
2020-06-11 | Journal article
DOI: 10.1038/s41436-020-0840-3
PMID: 32528171
PMC: PMC7462745
Source: Self-asserted source
Pilar Marti
grade
Preferred source (of 2)‎

Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum

Journal of Neurology
2020-05-04 | Journal article
DOI: 10.1007/s00415-020-09872-7
Part of ISSN: 0340-5354
Part of ISSN: 1432-1459
Source: Self-asserted source
Pilar Marti
grade
Preferred source (of 2)‎

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

PLOS Pathogens
2019-08-29 | Journal article
DOI: 10.1371/journal.ppat.1007958
Part of ISSN: 1553-7374
Source: Self-asserted source
Pilar Marti
grade
Preferred source (of 3)‎

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

2010-08 | Journal article
DOI: 10.1212/wnl.0b013e3181eee4d5
PMID: 20733148
Contributors: Muelas N; Hackman P; Luque H; Garcés-Sánchez M; Azorín I; Suominen T; Sevilla T; Mayordomo F; Gómez L; Martí P et al.
Source: Self-asserted source
Pilar Marti via Europe PubMed Central
grade
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Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial involvement

Other
DOI: 10.1101/2024.02.10.24302480
Contributors: Mridul Johari; Ana Topf; Chiara Folland; Jennifer Duff; Lein Dofash; Pilar Marti; Thomas Robertson; Juan J Vilchez; Anita Cairns; Elizabeth Harris et al.
Source: Self-asserted source
Pilar Marti via Crossref Metadata Search
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