Jorge Alonso‐Pérez

Universitat Autònoma de Barcelona — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

19h-index1.3kcitations82works4.92yr avg
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Research Topics

Muscle Physiology and Disorders(31), Genetic Neurodegenerative Diseases(22), Glycogen Storage Diseases and Myoclonus(22), Lysosomal Storage Disorders Research(19), Neurogenetic and Muscular Disorders Research(10)

Publications82 total

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology·2025Open Access
282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands
Neuromuscular Disorders·2025
545PDM1-hub: building a national hub for myotonic dystrophy type 1 in Spain
Neuromuscular Disorders·2025
455PCracking the code: genotype-phenotype correlation models in sarcoglycanopathies
Neuromuscular Disorders·2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Neurology Genetics·2025· 1 citedOpen Access
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Neurología (English Edition)·2025Open Access
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia Sarcopenia and Muscle·2025· 4 citedOpen Access
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Neurología·2025Open Access
624P A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy and familial amyotrophic lateral sclerosis.
Neuromuscular Disorders·2024
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy
Frontiers in Cell and Developmental Biology·2024· 12 citedOpen Access
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
The Lancet Neurology·2024· 29 cited
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
Journal of Neurology·2024· 22 citedOpen Access
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology·2024Open Access
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
Scientific Reports·2024· 5 citedOpen Access
Efgartigimod en Miastenia gravis triple seronegativa refractaria en paciente con intolerancia a múltiples agentes terapéuticos.
2024
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders·2023· 7 cited
P432 Clinical and genetic characteristics of patients with Emery-Dreifuss muscular dystrophy from the Canary Islands carrying a probable founder mutation in the EMD gene
Neuromuscular Disorders·2023
P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study
Neuromuscular Disorders·2023· 1 cited
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
Cell Death and Disease·2023· 36 citedOpen Access
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
Neuromuscular Disorders·2023· 8 citedOpen Access
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Frequent Co-authors

Jordi Díaz‐Manera(47), Cristina Domínguez‐González(16), Volker Straub(14), Montse Olivé(13), Xavier Suárez‐Calvet(13), Isabel Illa(12), Claudia Nuñez‐Peralta(11), Esther Fernández‐Simón(11), Adolfo López de Munaín(10), Nuria Muelas(10), A. Nascimento(10), Giorgio Tasca(10), Alicia Alonso‐Jiménez(10), Eduard Gallardo(10), Benedikt Schoser(9), Roberto Fernández‐Torrón(9), Sonia Segovia(9), Carmen Paradas(9), António Toscano(8), Michela Guglieri(8)