Maria Salvado
Overview
Explore the profile of Maria Salvado including associated specialties, affiliations and a list of published articles.
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Articles
29
Citations
261
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0
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Recent Articles
1.
Lainez E, Sanchez-Tejerina D, Fernandez Alvarez P, Gratacos-Vinola M, Seoane J, Santa-Cruz D, et al.
Clin Neurophysiol
. 2024 Dec;
170:136-144.
PMID: 39721397
Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition...
2.
Sanchez-Tejerina D, Llaurado A, Sotoca J, Lopez-Diego V, Vidal Taboada J, Salvado M, et al.
Cells
. 2023 May;
12(8).
PMID: 37190090
Amyotrophic lateral sclerosis is a neurodegenerative disease characterized by the degeneration of motor neurons for which effective therapies are lacking. One of the most explored areas of research in ALS...
3.
Luis Restrepo-Vera J, Munoz-Cabello P, Perez-Rodon J, Rovira-Moreno E, Codina-Sola M, Llaurado A, et al.
Neuromuscul Disord
. 2023 Apr;
33(6):463-467.
PMID: 37119590
TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and...
4.
Luis Restrepo-Vera J, Rovira-Moreno E, Ramon J, Codina-Sola M, Llaurado A, Salvado M, et al.
J Hum Genet
. 2023 Mar;
68(8):527-532.
PMID: 36959467
RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants in this gene result in familial mitochondrial disease in adults...
5.
Sanchez-Tejerina D, Fernandez Alvarez P, Lainez E, Martinez V, Santa-Cruz D, Verdaguer L, et al.
J Neurol Sci
. 2023 Feb;
446:120565.
PMID: 36753892
Introduction: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory...
6.
Llaurado A, Gratacos-Vinola M, Rovira-Moreno E, Codina-Sola M, Salvado M, Sanchez-Tejerina D, et al.
Muscle Nerve
. 2023 Jan;
67(6):E22-E24.
PMID: 36631979
No abstract available.
7.
Llaurado A, Rovira-Moreno E, Codina-Sola M, Martinez-Saez E, Salvado M, Sanchez-Tejerina D, et al.
Clin Genet
. 2022 Dec;
103(4):492-494.
PMID: 36544354
Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient. We report two adult siblings with c.614A>G...
8.
Sanchez-Tejerina D, Sotoca J, Llaurado A, Lopez-Diego V, Juntas-Morales R, Salvado M
J Clin Med
. 2022 Nov;
11(21).
PMID: 36362622
Myasthenia gravis (MG) is a chronic autoimmune disease for which multiple immunomodulatory therapies are available. Nevertheless, MG has a significant impact on patient quality of life. In recent years, experts'...
9.
Sanchez-Tejerina D, Luis Restrepo-Vera J, Rovira-Moreno E, Codina-Sola M, Llaurado A, Sotoca J, et al.
Genes (Basel)
. 2022 Aug;
13(8).
PMID: 36011394
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that can rarely affect young individuals. Juvenile ALS (JALS) is defined for individuals with an onset of the disease before the age...
10.
HLA-DQB1*05:02, *05:03, and *03:01 alleles as risk factors for myasthenia gravis in a Spanish cohort
Salvado M, Caro J, Garcia C, Rudilla F, Zalba-Jadraque L, Lopez E, et al.
Neurol Sci
. 2022 May;
43(8):5057-5065.
PMID: 35524016
Background: Myasthenia gravis (MG) is a very heterogenic chronic autoimmune disease caused by the failure of neuromuscular transmission. The HLA gene complex has conventionally been recognized as its main genetic...