J. Alonso-Pérez

发表

The increasing role of muscle MRI to monitor changes over time in untreated and treated muscle diseases

J. Díaz-Manera, C. Nuñez-Peralta, J. Alonso-Pérez, 2020, Current opinion in neurology.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

T. Crawford, C. Bruno, E. Zanoteli, 2021, Brain : a journal of neurology.

Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

I. Illa, J. Sanchez-González, J. Díaz-Manera, 2020, Journal of cachexia, sarcopenia and muscle.

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

C. Ortez, G. Nogales-Gadea, M. Rubio, 2022, Biomedicines.

Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease

J. Díaz-Manera, J. Llauger, P. Montesinos, 2021, Frontiers in Neurology.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Josep Maria Salanova Grau, I. Rojas-Marcos, M. Mayos, 2019, Scientific Reports.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

BNIP3 is involved in muscle fiber atrophy in Late-Onset Pompe Disease patients.

B. Schoser, E. Rivas, C. Paradas, 2022, The American journal of pathology.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

B. Byrne, A. Pestronk, M. Tarnopolsky, 2021, The Lancet Neurology.

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Y. Chien, B. Schoser, K. Gutschmidt, 2021, Journal of Neurology.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

E. Aller, L. Martínez-Dolz, I. Azorín, 2022, Annals of neurology.

Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice

L. Badimón, E. Gallardo, M. Borrell-Pages, 2022, Biomedicines.

Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands

X. Suárez-Calvet, J. Díaz-Manera, L. Gonzalez-Quereda, 2022, European journal of neurology.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

A. López de Munain, I. Illa, J. Díaz-Manera, 2020 .

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

I. Rojas-Marcos, M. Mayos, A. López de Munain, 2019, Molecular genetics and metabolism.

Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

C. Paradas, R. Sivera, J. Díaz-Manera, 2021, European journal of neurology.

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

C. Ortez, I. Illa, E. Gallardo, 2021, Frontiers in Neurology.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

K. Claeys, D. Pareyson, T. Mongini, 2022, Journal of neuromuscular diseases.

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

C. Ortez, M. Madruga-Garrido, I. Jericó, 2020, Genes.

Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis

R. Rojas-García, C. Zamora, I. Illa, 2020, Neurology: Neuroimmunology & Neuroinflammation.

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Miguel Ángel Martín, J. A. Cabezas, C. Paradas, 2021, Neuromuscular Disorders.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

J. Jaiswal, A. Bigot, V. Mouly, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

J. Vissing, G. Tasca, I. Illa, 2020, Neurology.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Muscle MRI in McArdle Disease

Miguel Ángel Martín, J. Vissing, F. Granata, 2022, Neurology.

Intramuscular fatty infiltration and physical function in controlled acromegaly.

J. Díaz-Manera, J. Llauger, P. Montesinos, 2021, European journal of endocrinology.

An approach for designing smart manufacturing for the research and development of dye-sensitize solar cell

Selene L. Cardenas-Maciel, Edgar Alonso Reynoso-Soto, Jorge L. Alonso-Perez, 2021, Journal of Intelligent Manufacturing.

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

R. Rojas-García, I. Illa, V. Straub, 2021, Neuromuscular Disorders.

High prevalence of paraspinal muscle involvement in adults with McArdle disease

E. Gallardo, J. Díaz-Manera, M. Olivé, 2022, Muscle & nerve.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Josep Maria Salanova Grau, I. Rojas-Marcos, M. Mayos, 2019, Scientific Reports.

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

C. Weihl, J. Díaz-Manera, Jackson Wilborn, 2023, The Journal of clinical investigation.

Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

M. Reilly, E. Bertini, G. Tasca, 2023, Neuromuscular Disorders.

Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

M. Mayos, J. Díaz-Manera, J. Llauger, 2021, Frontiers in Neurology.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of neurology.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

A. López de Munain, I. Illa, J. Díaz-Manera, 2020, Medicina clinica.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

C. Paradas, S. Pascual-Pascual, C. Domínguez-González, 2023, Neuromuscular Disorders.