Aurelio Hernández‐Laín

Research Institute Hospital 12 de Octubre — Spain

Medicine · Health Sciences

10h-index492citations40works3.32yr avg
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Research Topics

Glycogen Storage Diseases and Myoclonus(13), Muscle Physiology and Disorders(10), Genetics and Neurodevelopmental Disorders(6), Cardiomyopathy and Myosin Studies(5), Lysosomal Storage Disorders Research(5)

Publications40 total

Imaging MRI Biomarkers for Diagnosing Brain Radionecrosis: Focus on Incomplete Ring Enhancement Sign
2025Open Access
Comprehensive immune ageing reveals TREM2/TIM3 myeloid cells drive brain immune evasion
EBioMedicine·2025· 3 citedOpen Access
Translating Muscle <scp>RNAseq</scp> Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology·2025· 3 citedOpen Access
Pathogenic <i>TNNT1</i> variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility
The Journal of Physiology·2025· 3 citedOpen Access
Adult Pompe disease: Analysis of 13 patients
Medicina Clínica (English Edition)·2025· 2 cited
Patient-Derived Surgical samples reveal patterns of glioblastoma infiltration and tumor microenvironment at the tumor margin
2025· 1 citedOpen Access
Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies
Molecular Genetics and Metabolism·2025· 9 citedOpen Access
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
Journal of Neurology·2025
Enfermedad de Pompe del adulto: análisis de 13 pacientes
Medicina Clínica·2024· 2 cited
NKG2C/<i>KLRC2</i> tumor cell expression enhances immunotherapeutic efficacy against glioblastoma
Journal for ImmunoTherapy of Cancer·2024· 10 citedOpen Access
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
Brain·2024· 6 citedOpen Access
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Journal of Human Genetics·2024· 1 cited
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Neuromuscular Disorders·2023· 2 cited
Ablation of the carboxy-terminal end of <i>MAMDC2</i> causes a distinct muscular dystrophy
Brain·2023· 14 citedOpen Access
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
Journal of Clinical Medicine·2023· 3 citedOpen Access
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Acta Neuropathologica·2022· 30 citedOpen Access
A novel <i>MLIP</i> truncating variant in an 80-year-old patient with late-onset progressive weakness
Brain·2022Open Access
Adult‐onset nemaline myopathy due to a novel homozygous variant in the <scp><i>TNNT1</i></scp> gene
Muscle & Nerve·2022· 4 cited
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
American Journal Of Pathology·2022· 6 cited
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum
Journal of Medical Genetics·2022· 4 citedOpen Access
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Frequent Co-authors

Cristina Domínguez‐González(22), Montse Olivé(11), Miguel A. Martı́n(9), Ana Arteche‐López(9), Eloy Rivas(8), Joaquı́n Arenas(6), Carmen Paradas(6), Jordi Díaz‐Manera(6), Juan Manuel Sepúlveda-Sánchez(6), Carlos Pablo de Fuenmayor‐Fernández de la Hoz(6), Paloma Martín‐Jiménez(6), Laura Bermejo‐Guerrero(6), Anders Oldfors(5), C. Jimenez‐Mallebrera(5), Ángel Pérez‐Núñez(5), Carola Hedberg‐Oldfors(4), Cornelia Kornblum(4), Alberto Blázquez(4), Lidia González‐Quereda(4), Eduard Gallardo(4)