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Browsing publications by Professor Jordi Diaz Manera.

Newcastle AuthorsTitleYearFull text
Professor Jordi Diaz Manera
Professor Volker Straub
Dr Andres Nascimento Osorio
Dr Sabine Specht
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial2021
Jose Verdú-Díaz
Professor Volker Straub
Professor Jordi Diaz Manera
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies2020
Professor Jordi Diaz Manera
Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B2020
Professor Jordi Diaz Manera
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in muscle cells2020
Dr Rita Barresi
Professor Jordi Diaz Manera
Genotype–phenotype correlations in recessive titinopathies2020
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Professor Andrew Blamire
et al.
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy2020
Professor Jordi Diaz Manera
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis2020
Professor Jordi Diaz Manera
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy2019
Dr Anna Mayhew
Roberto Fernandez-Torron
Dr Michelle Eagle
Karen Bettinson
Professor Andrew Blamire
et al.
Assessment of disease progression in dysferlinopathy – a 1 year cohort study2019
Professor Jordi Diaz Manera
Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy2019
Professor Jordi Diaz Manera
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease [Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert]2019
Professor Jordi Diaz Manera
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease [Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert]2019
Professor Jordi Diaz Manera
Eculizumab improves fatigue in refractory generalized myasthenia gravis2019
Professor Jordi Diaz Manera
Identification of serum microRNAs as potential biomarkers in Pompe disease2019
Professor Jordi Diaz Manera
Late-onset thymidine kinase 2 deficiency: A review of 18 cases2019
Professor Jordi Diaz Manera
Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis2019
Dr Chiara Marini Bettolo
Professor Volker Straub
Professor Jordi Diaz Manera
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy2019
Professor Jordi Diaz Manera
Professor Volker Straub
MYO-MRI diagnostic protocols in genetic myopathies2019
Professor Jordi Diaz Manera
PDGF-BB serum levels are decreased in adult onset Pompe patients2019
Professor Jordi Diaz Manera
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT2019
Professor Jordi Diaz Manera
233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 20172018
Dr Ana Topf
Professor Volker Straub
Professor Jordi Diaz Manera
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement2018
Professor Jordi Diaz Manera
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine2018
Professor Jordi Diaz Manera
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies2018
Professor Jordi Diaz Manera
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome2018
Professor Jordi Diaz Manera
Effect of MAPK inhibition on the differentiation of a rhabdomyosarcoma cell line combined with CRISPR/Cas9 technology: An in vitro model of human muscle diseases2018
Professor Jordi Diaz Manera
Isolated girdle weakness: Expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA [Debilidad aislada de cinturas: Ampliación del espectro fenotípico de la mutación merrf 8344A>G del ADN mitocondrial]2018
Professor Jordi Diaz Manera
McLeod syndrome is a new cause of axial muscle weakness2018
Professor Jordi Diaz Manera
Aida Alejaldre
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up2018
Professor Jordi Diaz Manera
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
et al.
Muscle MRI in dysferlinopathy patients: Pattern recognition and implications for clinical trials2018
Professor Jordi Diaz Manera
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy2018
Professor Jordi Diaz Manera
Ocular ptosis: differential diagnosis and treatment2018
Sebastian Figueroa Bonaparte
Professor Jordi Diaz Manera
Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study2018
Professor Jordi Diaz Manera
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis2018
Professor Jordi Diaz Manera
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France2017
Professor Jordi Diaz Manera
Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy2017
Professor Jordi Diaz Manera
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB152017
Dr Oksana Pogoryelova
Professor Jordi Diaz Manera
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database2017
Professor Jordi Diaz Manera
Differences in adipose tissue and lean mass distribution in patients with collagen VI related myopathies are associated with disease severity and physical ability2017
Professor Jordi Diaz Manera
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria2017
Professor Jordi Diaz Manera
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience2017
Professor Jordi Diaz Manera
Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis2017
Professor Jordi Diaz Manera
Muscle MRI in neutral lipid storage disease (NLSD)2017
Professor Jordi Diaz Manera
Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy2017
Professor Jordi Diaz Manera
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis2017
Professor Jordi Diaz Manera
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study2017
Dr Simao Cruz
Sebastian Figueroa Bonaparte
Professor Jordi Diaz Manera
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum2016
Professor Jordi Diaz Manera
Clinical characteristics of patients with double-seronegative myasthenia gravis and antibodies to cortactin2016
Professor Jordi Diaz Manera
Longitudinal epitope mapping in MuSK myasthenia gravis: Implications for disease severity2016
Professor Jordi Diaz Manera
Aida Alejaldre
Dr Nuria Muelas Gomez
Roberto Fernandez-Torron
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes2016
Sebastian Figueroa Bonaparte
Aida Alejaldre
Professor Jordi Diaz Manera
Muscle MRI findings in childhood/adult onset Pompe disease correlate with muscle function2016
Professor Jordi Diaz Manera
Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease2016
Professor Jordi Diaz Manera
Alterations in cerebral white matter and neuropsychology in patients with cirrhosis and falls2015
Professor Jordi Diaz Manera
Muscle MRI in muscular dystrophies2015
Professor Jordi Diaz Manera
Myasthenia gravis: Descriptive analysis of life-threatening events in a recent nationwide registry2015
Professor Jordi Diaz Manera
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins2015
Professor Jordi Diaz Manera
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy2015
Professor Jordi Diaz Manera
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort2015
Dr Catherine Bladen
Professor Jordi Diaz Manera
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Annemieke Aartsma-Rus
et al.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations2015
Professor Jordi Diaz Manera
Toxic demyelinating neuropathy and leukoencephalopathy in patients who take the slimming products Thermatrim ® and Pura Alegría ®Neuropatía desmielinizante y leucoencefalopatía tóxicas en pacientes que toman los productos adelgazantes Thermatrim ® y Pura Alegría ®2015
Professor Jordi Diaz Manera
Transcriptome analysis of ullrich congenital muscular dystrophy fibroblasts reveals a disease extracellular matrix signature and key molecular regulators2015
Professor Jordi Diaz Manera
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis2014
Professor Jordi Diaz Manera
Analysis of serum miRNA profiles of myasthenia gravis patients2014
Professor Jordi Diaz Manera
Cortactin autoantibodies in myasthenia gravis2014
Professor Jordi Diaz Manera
Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene2014
Professor Jordi Diaz Manera
Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes2014
Professor Jordi Diaz Manera
Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg2014
Professor Jordi Diaz Manera
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis2014