Carlos Pablo de Fuenmayor-Fernandez de la Hoz
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Explore the profile of Carlos Pablo de Fuenmayor-Fernandez de la Hoz including associated specialties, affiliations and a list of published articles.
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17
Citations
141
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Recent Articles
1.
Iruzubieta P, Verdu-Diaz J, Topf A, Luce L, Claeys K, De Ridder W, et al.
J Neurol
. 2025 Jan;
272(2):150.
PMID: 39812845
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been...
2.
de Fuenmayor-Fernandez de la Hoz C, Lupo V, Bermejo-Guerrero L, Martin-Jimenez P, Hernandez-Lain A, Olive M, et al.
J Neurol
. 2023 Nov;
271(2):986-994.
PMID: 37907725
Objective: To describe a new phenotype associated with a novel variant in BAG3: autosomal dominant adult-onset distal hereditary motor neuronopathy. Methods: This study enrolled eight affected individuals from a single...
3.
Munoz-Garcia M, Guerrero-Molina M, de Fuenmayor-Fernandez de la Hoz C, Bermejo-Guerrero L, Arteche-Lopez A, Hernandez-Lain A, et al.
J Clin Med
. 2023 May;
12(9).
PMID: 37176748
Background: Congenital myasthenic syndromes (CMSs) and primary mitochondrial myopathies (PMMs) can present with ptosis, external ophthalmoplegia, and limb weakness. Methods: Our method involved the description of three cases of CMS...
4.
Bermejo-Guerrero L, de Fuenmayor-Fernandez de la Hoz C, Guerrero-Molina M, Martin-Jimenez P, Blazquez A, Serrano-Lorenzo P, et al.
J Clin Med
. 2023 Mar;
12(6).
PMID: 36983435
Primary mitochondrial myopathies (PMM) are a clinically and genetically highly heterogeneous group that, in some cases, may manifest exclusively as fatigue and exercise intolerance, with minimal or no signs on...
5.
Dominguez-Gonzalez C, Hernandez-Voth A, de Fuenmayor-Fernandez de la Hoz C, Guerrero L, Moris G, Garcia-Garcia J, et al.
Neuromuscul Disord
. 2022 Jul;
32(9):728-735.
PMID: 35907766
This historical cohort study evaluated clinical characteristics of progression and prognosis in adults with thymidine kinase 2 deficiency (TK2d). Records were available for 17 untreated adults with TK2d (mean age...
6.
Martin-Jimenez P, de Fuenmayor-Fernandez de la Hoz C, Hernandez-Lain A, Arteche-Lopez A, Quesada-Espinosa J, Voth A, et al.
Muscle Nerve
. 2022 Jul;
66(4):E13-E15.
PMID: 35833674
No abstract available.
7.
Dominguez-Gonzalez C, Fernandez-Torron R, Moore U, de Fuenmayor-Fernandez de la Hoz C, Velez-GoMEZ B, Cabezas J, et al.
J Neurol
. 2022 Mar;
269(7):3550-3562.
PMID: 35286480
Background And Objective: TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate...
8.
Bermejo-Guerrero L, de Fuenmayor-Fernandez de la Hoz C, Serrano-Lorenzo P, Blazquez-Encinar A, Gutierrez-Gutierrez G, Martinez-Vicente L, et al.
J Clin Med
. 2022 Jan;
11(1).
PMID: 35011763
Autosomal dominant mutations in the gene, which encodes a mitochondrial DNA helicase, cause adult-onset progressive external ophthalmoplegia (PEO) and PEO-plus presentations. In this retrospective observational study, we describe clinical and...
9.
de Fuenmayor-Fernandez de la Hoz C, Moris G, Jimenez-Mallebrera C, Badosa C, Hernandez-Lain A, Encinar A, et al.
Mol Genet Metab Rep
. 2021 Jan;
26:100701.
PMID: 33457207
A 29-year-old man developed, since the age of 18, exercise intolerance and exercise-induced rhabdomyolysis, with myoglobinuria. Muscle biopsy showed ragged-red fibers. Multiple mitochondrial DNA deletions were detected. The previously reported...
10.
Mendez-Guerrero A, Laespada-Garcia M, Gomez-Grande A, Ruiz-Ortiz M, Blanco-Palmero V, Azcarate-Diaz F, et al.
Neurology
. 2020 Jul;
95(15):e2109-e2118.
PMID: 32641525
Objective: To report a case of a patient infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who acutely developed a hypokinetic-rigid syndrome. Methods: Patient data were obtained from medical...