Loreto Martorell
Overview
Explore the profile of Loreto Martorell including associated specialties, affiliations and a list of published articles.
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Articles
57
Citations
1196
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Recent Articles
1.
Ortuno-Yepes B, Martorell L, Armstrong J, Ortigoza-Escobar J
Parkinsonism Relat Disord
. 2025 Feb;
:107327.
PMID: 39971646
No abstract available.
2.
Noguera-Julian A, Wilhelmi E, Cusso M, Aarnoutse R, Colbers A, Martorell L, et al.
Antibiotics (Basel)
. 2025 Jan;
14(1).
PMID: 39858360
: Isoniazid (INH) remains a first-line drug for the treatment of tuberculosis (TB) in young children. In 2010, the WHO recommended an increase in the daily dose of INH up...
3.
Amato M, Balsells S, Martorell L, Alcala San Martin A, Ansell K, Borresen M, et al.
Eur J Paediatr Neurol
. 2024 Oct;
53:63-72.
PMID: 39413657
Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a...
4.
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, et al.
Pediatr Neurol
. 2024 Jun;
157:5-13.
PMID: 38833907
Background: Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising from gene variants encoding diverse NMJ proteins. Recently, the VAMP1 gene, responsible for encoding the...
5.
Nou-Fontanet L, Marti-Sanchez L, Martorell L, Casas J, Ortigoza-Escobar J
Mov Disord Clin Pract
. 2024 Apr;
11(7):889-893.
PMID: 38650363
No abstract available.
6.
Estevez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-Garcia L, et al.
J Neuromuscul Dis
. 2024 Mar;
11(3):647-653.
PMID: 38489196
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing...
7.
Roldan M, Nolasco G, Armengol L, Frias M, Morell M, Garcia-Aragones M, et al.
Int J Mol Sci
. 2023 Sep;
24(18).
PMID: 37762002
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The gene...
8.
Nou-Fontanet L, Garcia-Navas D, Gomez-Martin H, Martorell L, Ortigoza-Escobar J
Mov Disord Clin Pract
. 2023 Jun;
10(6):1013-1015.
PMID: 37332634
No abstract available.
9.
Amato M, Ricart S, Vicente M, Martorell L, Armstrong J, Fernandez Isern G, et al.
Clin Case Rep
. 2023 Apr;
11(4):e7275.
PMID: 37113642
Key Clinical Message: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene...
10.
Lopez-Ramos M, Vinent J, Aarnoutse R, Colbers A, Velasco-Arnaiz E, Martorell L, et al.
Antibiotics (Basel)
. 2023 Feb;
12(2).
PMID: 36830184
In 2010, the WHO recommended an increase in the daily doses of first-line anti-tuberculosis medicines in children. We aim to characterize the pharmacokinetics of the once-daily isoniazid (INH) dose at...