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 |
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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 |
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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 |
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Dr Marianela Schiava Professor Jordi Diaz Manera
| Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry | 2024 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials | 2024 |
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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 |
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Dr Mary Neal Carla Bolaño Diaz Mark Richardson Jassi Michell-Sodhi Robert Muni Lofra et al. | Rapid quantitative assessment of muscle sodium dynamics after exercise using 23Na-MRI in dysferlinopathy and healthy controls | 2024 |
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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 |
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Professor Jordi Diaz Manera
| Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease | 2024 |
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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 |
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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 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy | 2023 |
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Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al. | The John Walton Muscular Dystrophy Research Centre Biobank | 2023 |
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Professor Jordi Diaz Manera
| BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients | 2022 |
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Professor Jordi Diaz Manera
| Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands | 2022 |
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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 |
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Professor Giorgio Tasca Professor Jordi Diaz Manera
| Genotype-phenotype correlations in valosin-containing protein disease: A retrospective muticentre study | 2022 |
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Professor Jordi Diaz Manera
| High prevalence of paraspinal muscle involvement in adults with McArdle disease | 2022 |
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Professor Jordi Diaz Manera
| Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials | 2022 |
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Professor Jordi Diaz Manera
| Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy | 2022 |
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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 |
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Professor Jordi Diaz Manera
| Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation | 2021 |
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Professor Jordi Diaz Manera
| Imaging of Neuromuscular Diseases | 2021 |
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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 |
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Professor Jordi Diaz Manera Professor Volker Straub
| Skeletal muscle magnetic resonance imaging in Pompe disease | 2021 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B | 2020 |
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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 |
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Dr Rita Barresi Professor Giorgio Tasca Professor Jordi Diaz Manera
| Genotype–phenotype correlations in recessive titinopathies | 2020 |
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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 |
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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 |
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Roberto Fernandez-Torron Professor Jordi Diaz Manera
| Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease | 2020 |
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Professor Jordi Diaz Manera
| Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis | 2020 |
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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 |
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Professor Jordi Diaz Manera
| Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy | 2019 |
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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 |
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Professor Jordi Diaz Manera
| Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy | 2019 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Eculizumab improves fatigue in refractory generalized myasthenia gravis | 2019 |
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Professor Jordi Diaz Manera
| Identification of serum microRNAs as potential biomarkers in Pompe disease | 2019 |
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Professor Jordi Diaz Manera
| Late-onset thymidine kinase 2 deficiency: A review of 18 cases | 2019 |
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Professor Jordi Diaz Manera
| Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis | 2019 |
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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 |
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Professor Jordi Diaz Manera Professor Giorgio Tasca Professor Volker Straub
| MYO-MRI diagnostic protocols in genetic myopathies | 2019 |
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Professor Jordi Diaz Manera
| PDGF-BB serum levels are decreased in adult onset Pompe patients | 2019 |
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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 |
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Professor Jordi Diaz Manera
| 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 | 2018 |
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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 |
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Professor Jordi Diaz Manera
| A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine | 2018 |
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Professor Jordi Diaz Manera
| Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies | 2018 |
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Professor Jordi Diaz Manera
| Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome | 2018 |
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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 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| McLeod syndrome is a new cause of axial muscle weakness | 2018 |
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Professor Giorgio Tasca Professor Jordi Diaz Manera Professor Chiara Marini Bettolo Professor Volker Straub
| MRI in sarcoglycanopathies: a large international cohort study | 2018 |
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Professor Jordi Diaz Manera Aida Alejaldre
| Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up | 2018 |
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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 |
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Professor Jordi Diaz Manera
| Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy | 2018 |
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Professor Jordi Diaz Manera
| Ocular ptosis: differential diagnosis and treatment | 2018 |
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Sebastian Figueroa Bonaparte Professor Jordi Diaz Manera
| Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study | 2018 |
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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 |
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Professor Jordi Diaz Manera
| The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis | 2018 |
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Professor Jordi Diaz Manera
| 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France | 2017 |
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Professor Jordi Diaz Manera
| Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy | 2017 |
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Professor Jordi Diaz Manera
| Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15 | 2017 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria | 2017 |
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Professor Jordi Diaz Manera
| European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience | 2017 |
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Professor Jordi Diaz Manera
| Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis | 2017 |
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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 |
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Professor Giorgio Tasca Professor Jordi Diaz Manera
| Muscle MRI in neutral lipid storage disease (NLSD) | 2017 |
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Professor Jordi Diaz Manera
| Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy | 2017 |
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Professor Jordi Diaz Manera
| RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis | 2017 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Clinical characteristics of patients with double-seronegative myasthenia gravis and antibodies to cortactin | 2016 |
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Professor Jordi Diaz Manera
| Longitudinal epitope mapping in MuSK myasthenia gravis: Implications for disease severity | 2016 |
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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 |
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Sebastian Figueroa Bonaparte Aida Alejaldre Professor Jordi Diaz Manera
| Muscle MRI findings in childhood/adult onset Pompe disease correlate with muscle function | 2016 |
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Professor Jordi Diaz Manera
| Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease | 2016 |
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Professor Jordi Diaz Manera
| Alterations in cerebral white matter and neuropsychology in patients with cirrhosis and falls | 2015 |
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Professor Jordi Diaz Manera
| Muscle MRI in muscular dystrophies | 2015 |
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Professor Jordi Diaz Manera
| Myasthenia gravis: Descriptive analysis of life-threatening events in a recent nationwide registry | 2015 |
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Professor Jordi Diaz Manera
| Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins | 2015 |
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Professor Jordi Diaz Manera
| Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy | 2015 |
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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 |
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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 |
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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 |
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Professor Jordi Diaz Manera
| Transcriptome analysis of ullrich congenital muscular dystrophy fibroblasts reveals a disease extracellular matrix signature and key molecular regulators | 2015 |
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Professor Jordi Diaz Manera
| Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis | 2014 |
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Professor Jordi Diaz Manera
| Analysis of serum miRNA profiles of myasthenia gravis patients | 2014 |
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Professor Jordi Diaz Manera
| Cortactin autoantibodies in myasthenia gravis | 2014 |
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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 |
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Professor Jordi Diaz Manera
| Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes | 2014 |
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Professor Jordi Diaz Manera
| Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg | 2014 |
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Professor Jordi Diaz Manera
| Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis | 2014 |
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