Inmaculada Azorı́n

Instituto de Salud Carlos III — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.4kcitations58works1.32yr avg
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Research Topics

Muscle Physiology and Disorders(11), Mitochondrial Function and Pathology(9), Metabolism and Genetic Disorders(8), Cardiomyopathy and Myosin Studies(7), Genetic Neurodegenerative Diseases(7)

Publications58 total

<i>SNUPN</i> ‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology·2025Open Access
502PA LGMDD2 muscular dystrophy pathological and transcriptomic study
Neuromuscular Disorders·2025
146PClinical, molecular, and pathological characterization of MYL1-related congenital myopathy: report of two novel cases
Neuromuscular Disorders·2025
298PAnalysis of long-term clinical and MRI findings highlights progressive nature of Ano5-related myopathies and the role of imaging as a valuable outcome measure
Neuromuscular Disorders·2025
<i>MYL1</i>‐Related Congenital Myopathy: Clinical, Genetic and Pathological Insights
Neuropathology and Applied Neurobiology·2025· 3 citedOpen Access
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies
Journal of Neurology·2025· 3 cited
Asymptomatic HyperCKemia in the Pediatric Population
Neurology·2024· 1 cited
21484. UTILIDAD DE LA BIOPSIA DE PIEL EN EL DIAGNÓSTICO DE NEUROPATÍAS
Neurology Perspectives·2024Open Access
21548. ENFERMEDAD DE CHARCOT-MARIE-TOOTH DE TIPO INTERMEDIO: PERFILES CLÍNICO-GENÉTICOS MÁS ALLÁ DEL GJB1
Neurology Perspectives·2024Open Access
<scp><i>ITPR3</i></scp>‐associated neuropathy: Report of a further family with adult onset intermediate Charcot–Marie–Tooth disease
European Journal of Neurology·2024· 1 citedOpen Access
Insights into phenotypic variability caused by <i>GARS1</i> pathogenic variants
European Journal of Neurology·2024· 6 citedOpen Access
Expanding the Clinical Spectrum of <i>DRP2</i> -Associated Charcot-Marie-Tooth Disease
Neurology·2024· 2 citedOpen Access
Dystrophinopathy Phenotypes and Modifying Factors in <scp><i>DMD</i></scp> Exon 45–55 Deletion
Annals of Neurology·2022· 14 citedOpen Access
A novel <i>TRMT5</i> mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
Neuropathology and Applied Neurobiology·2022· 11 citedOpen Access
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in <scp> <i>IMMT</i> </scp> gene
Clinical Genetics·2021· 12 cited
Author response for "Mitochondrial Developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene"
2021Open Access
Author response for "Mitochondrial Developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene"
2021Open Access
APPLICATION OF NEXT GENERATION TECHNOLOGIES
Neuromuscular Disorders·2021
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging
European Journal of Neurology·2020· 14 cited
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe
Journal of the Neurological Sciences·2020· 8 cited
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Frequent Co-authors

Juan J. Vílchez(24), Nuria Muelas(20), Teresa Sevilla(17), Jaime Renau‐Piqueras(14), Pilar Martí(14), Roger Vílchez(10), Manuel Portolés(9), Consuelo Guerri(8), Luis Martínez‐Dolz(8), Esther Roselló‐Lletí(7), Raquel Cortés(7), Rafael Sivera(7), F. Mayordomo(6), Luís Bataller(6), Francisco J. Iborra(5), Inmaculada Pitarch Castellano(5), Juan F. Vázquez‐Costa(5), Francisca Lago(4), José Ramón González‐Juanatey(4), Miguel Rivera(4)