Publications by Professor Jordi Diaz Manera - ePrints

Browsing publications by Professor Jordi Diaz Manera.

Newcastle Authors	Title	Year
Dr Doaa Salman Carla Bolaño Diaz Robert Muni Lofra Karen Wong Dr Maha Elseed et al.	Axial involvement as a prominent feature in SMPX-related distal myopathy	2024
Professor Jordi Diaz Manera Professor Giorgio Tasca	Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.	2024
Dr Ana Topf Dr Karin Engelhardt Professor Sophie Hambleton Professor Jordi Diaz Manera Professor Chiara Marini Bettolo et al.	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	2024
Dr Marianela Schiava Professor Jordi Diaz Manera	Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry	2024
Dr Ana Topf Daniel Cox Dr Valeria Di Leo Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al.	Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy	2024
Dr Marianela Schiava Robert Muni Lofra Dr John Bourke Meredith James Professor Jordi Diaz Manera et al.	Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy	2024
Patricia Pinol Jurado Jose Verdú-Díaz Esther Fernández-Simón Dr Conor Lawless Dr Amy Vincent et al.	Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration	2024
Esther Fernández-Simón Rasya Gokul Nath Adrienne Unsworth Dr Marianela Schiava Professor Giorgio Tasca et al.	Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy	2024
Dr Marianela Schiava Jose Verdú-Díaz Professor Giorgio Tasca Professor Volker Straub Professor Chiara Marini Bettolo et al.	Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis	2023
Esther Fernández-Simón Patricia Pinol Jurado Dr Elisa Villalobos Villegas Dr Alexandra Monceau Dr Marianela Schiava et al.	Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations	2023
Dr Ursula Moore Carla Bolaño Diaz Meredith James Professor Andrew Blamire Georgina Boyle et al.	Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern	2023
Dr Ursula Moore Esther Fernández-Simón Dr Marianela Schiava Daniel Cox Meredith James et al.	Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy	2023
Professor Jordi Diaz Manera	Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy	2023
Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al.	The John Walton Muscular Dystrophy Research Centre Biobank	2023
Professor Jordi Diaz Manera	BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients	2022
Professor Jordi Diaz Manera	Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands	2022
Meredith James Dr Gerald Pfeffer Professor Jordi Diaz Manera	Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy	2022
Professor Giorgio Tasca Professor Jordi Diaz Manera	Genotype-phenotype correlations in valosin-containing protein disease: A retrospective muticentre study	2022
Professor Jordi Diaz Manera	High prevalence of paraspinal muscle involvement in adults with McArdle disease	2022
Professor Jordi Diaz Manera	Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials	2022
Professor Jordi Diaz Manera	Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy	2022
Dr ursula Moore Dr Fiona Smith Dr Ian Wilson Meredith James Dr Anna Mayhew et al.	Water T2 could predict functional decline in patients with dysferlinopathy	2022
Professor Jordi Diaz Manera	Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation	2021
Professor Jordi Diaz Manera	Imaging of Neuromuscular Diseases	2021
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 trial	2021
Professor Jordi Diaz Manera Professor Volker Straub	Skeletal muscle magnetic resonance imaging in Pompe disease	2021
Jose Verdú-Díaz Professor Giorgio Tasca Professor Volker Straub Professor Jordi Diaz Manera	Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies	2020
Professor Giorgio Tasca Dr Jana Haberlova Professor Volker Straub Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al.	European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)	2020
Professor Jordi Diaz Manera	Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B	2020
Professor Jordi Diaz Manera	Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in muscle cells	2020
Dr Rita Barresi Professor Giorgio Tasca Professor Jordi Diaz Manera	Genotype–phenotype correlations in recessive titinopathies	2020
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 Dysferlinopathy	2020
Professor Jordi Diaz Manera	Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study	2020
Roberto Fernandez-Torron Professor Jordi Diaz Manera	Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease	2020
Professor Jordi Diaz Manera	Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis	2020
Dr Katherine Johnson Dr Ana Topf Professor Jordi Diaz Manera Professor Volker Straub	POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy	2019
Professor Jordi Diaz Manera	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy	2019
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 study	2019
Professor Jordi Diaz Manera	Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy	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	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 gravis	2019
Professor Jordi Diaz Manera	Identification of serum microRNAs as potential biomarkers in Pompe disease	2019
Professor Jordi Diaz Manera	Late-onset thymidine kinase 2 deficiency: A review of 18 cases	2019
Professor Jordi Diaz Manera	Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis	2019
Professor Giorgio Tasca Professor Chiara Marini Bettolo Professor Volker Straub Professor Jordi Diaz Manera	Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy	2019
Professor Jordi Diaz Manera Professor Giorgio Tasca Professor Volker Straub	MYO-MRI diagnostic protocols in genetic myopathies	2019
Professor Jordi Diaz Manera	PDGF-BB serum levels are decreased in adult onset Pompe patients	2019
Professor Jordi Diaz Manera	Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT	2019
Professor Jordi Diaz Manera	233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017	2018
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 involvement	2018
Professor Jordi Diaz Manera	A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine	2018
Professor Jordi Diaz Manera	Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies	2018
Professor Jordi Diaz Manera	Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome	2018
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 diseases	2018
Dr Cecilia Jimenez Moreno Professor Jordi Diaz Manera	Eight years after an international workshop on myotonic dystrophy patient registries: Case study of a global collaboration for a rare disease	2018
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 weakness	2018
Professor Giorgio Tasca Professor Jordi Diaz Manera Professor Chiara Marini Bettolo Professor Volker Straub	MRI in sarcoglycanopathies: a large international cohort study	2018
Professor Jordi Diaz Manera Aida Alejaldre	Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up	2018
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 trials	2018
Professor Jordi Diaz Manera	Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy	2018
Professor Jordi Diaz Manera	Ocular ptosis: differential diagnosis and treatment	2018
Sebastian Figueroa Bonaparte Professor Jordi Diaz Manera	Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study	2018
Dr Ursula Moore Roberto Fernandez-Torron Meredith James Dr Anna Mayhew Dr Michelle Eagle et al.	Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study	2018
Professor Jordi Diaz Manera	The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis	2018
Professor Jordi Diaz Manera	1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France	2017
Professor Jordi Diaz Manera	Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy	2017
Professor Jordi Diaz Manera	Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15	2017
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 Database	2017
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 ability	2017
Professor Jordi Diaz Manera	Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria	2017
Professor Jordi Diaz Manera	European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience	2017
Professor Jordi Diaz Manera	Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis	2017
Dr Ana Topf Professor Jordi Diaz Manera Dr Nuria Muelas Gomez Dr Teresinha Evangelista Dr Yoshiteru Azuma et al.	Molecular characterization of congenital myasthenic syndromes in Spain	2017
Professor Giorgio Tasca 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 Dystrophy	2017
Professor Jordi Diaz Manera	RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis	2017
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 study	2017
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 Spectrum	2016
Professor Jordi Diaz Manera	Clinical characteristics of patients with double-seronegative myasthenia gravis and antibodies to cortactin	2016
Professor Jordi Diaz Manera	Longitudinal epitope mapping in MuSK myasthenia gravis: Implications for disease severity	2016
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 genes	2016
Sebastian Figueroa Bonaparte Aida Alejaldre Professor Jordi Diaz Manera	Muscle MRI findings in childhood/adult onset Pompe disease correlate with muscle function	2016
Professor Jordi Diaz Manera	Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease	2016
Professor Jordi Diaz Manera	Alterations in cerebral white matter and neuropsychology in patients with cirrhosis and falls	2015
Professor Jordi Diaz Manera	Muscle MRI in muscular dystrophies	2015
Professor Jordi Diaz Manera	Myasthenia gravis: Descriptive analysis of life-threatening events in a recent nationwide registry	2015
Professor Jordi Diaz Manera	Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins	2015
Professor Jordi Diaz Manera	Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy	2015
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 cohort	2015
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 Mutations	2015
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 regulators	2015
Professor Jordi Diaz Manera	Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis	2014
Professor Jordi Diaz Manera	Analysis of serum miRNA profiles of myasthenia gravis patients	2014
Professor Jordi Diaz Manera	Cortactin autoantibodies in myasthenia gravis	2014
Professor Jordi Diaz Manera	Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene	2014
Professor Jordi Diaz Manera	Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes	2014
Professor Jordi Diaz Manera	Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg	2014
Professor Jordi Diaz Manera	Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis	2014