Laura Bermejo‐Guerrero

Research Institute Hospital 12 de Octubre — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

7h-index917citations31works2.12yr avg
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Research Topics

Mitochondrial Function and Pathology(7), Muscle Physiology and Disorders(4), Glycogen Storage Diseases and Myoclonus(4), Neurogenetic and Muscular Disorders Research(3), Biochemical and Molecular Research(3)

Publications31 total

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on <scp>TK2</scp> Deficiency
Journal of Inherited Metabolic Disease·2026Open Access
347PMuscle MRI phenotyping of a cohort of patients with primary mitochondrial myopathies
Neuromuscular Disorders·2025
346PExploring the natural history of late-onset TK2 deficiency: biomarkers and key outcomes
Neuromuscular Disorders·2025
Adult Pompe disease: Analysis of 13 patients
Medicina Clínica (English Edition)·2025· 2 cited
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia Sarcopenia and Muscle·2025· 4 citedOpen Access
Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies
Molecular Genetics and Metabolism·2025· 9 citedOpen Access
20624. CARACTERÍSTICAS CLÍNICAS, PATOLÓGICAS Y GENÉTICAS DE 27 PACIENTES CON TRASTORNOS CAUSADOS POR VARIANTES PATOGÉNICAS EN POLG
Neurology Perspectives·2024Open Access
20484. MIOPATÍAS MITOCONDRIALES PRIMARIAS: CARACTERÍSTICAS BASALES Y POTENCIALES BIOMARCADORES A PARTIR DE UN ESTUDIO DE HISTORIA NATURAL
Neurology Perspectives·2024Open Access
20975. POLINEUROPATÍA AXONAL SENSITIVA EN PACIENTES CON DÉFICIT TIMIDINA QUINASA 2
Neurology Perspectives·2024Open Access
20707. SERIE DE CASOS DE MIOPATÍAS DE PREDOMINIO AXIAL
Neurology Perspectives·2024Open Access
20571. RENTABILIDAD Y HALLAZGOS DEL ESTUDIO DEL EXOMA CLÍNICO EN HIPERCKEMIAS ASINTOMÁTICAS/ PAUCISINTOMÁTICAS: EXPERIENCIA DE UN CENTRO TERCIARIO EN LOS ÚLTIMOS CINCO AÑOS
Neurology Perspectives·2024Open Access
532P Clinical, pathological, and genetic characteristics of 27 Spanish patients with POLG-related disorders
Neuromuscular Disorders·2024
652P Muscle MRI-phenotyping of patients with likely pathogenic anoctamin 5 variants
Neuromuscular Disorders·2024
519P Insights into primary mitochondrial myopathies: baseline characteristics and potential biomarkers from a natural history study
Neuromuscular Disorders·2024
Enfermedad de Pompe del adulto: análisis de 13 pacientes
Medicina Clínica·2024· 2 cited
Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report
Mitochondrion·2024· 7 citedOpen Access
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Neurology Genetics·2024· 12 citedOpen Access
Expanding the Clinical Spectrum of <i>DRP2</i> -Associated Charcot-Marie-Tooth Disease
Neurology·2024· 2 citedOpen Access
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
Journal of Neurology·2023· 5 citedOpen Access
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Neuromuscular Disorders·2023· 2 cited
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Frequent Co-authors

Cristina Domínguez‐González(19), Alberto Blázquez(11), Miguel A. Martı́n(11), Paloma Martín‐Jiménez(8), P. Martín Jiménez(8), C. Domínguez González(7), Carlos Pablo de Fuenmayor‐Fernández de la Hoz(6), Pablo Serrano‐Lorenzo(6), Aurelio Hernández‐Laín(6), Nuria Muelas(5), Ana Hernández-Voth(5), Ana Arteche‐López(5), A. Hernández Laín(4), Joaquı́n Arenas(4), Ramón Martí(3), Aurelio Hernández‐Laín(3), David Lora(3), María Rabasa(3), Montse Olivé(3), P. Serrano Lorenzo(3)