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 Giorgio Tasca
| Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment | 2024 |
|
Giulia Ricci
Professor Giorgio Tasca
| Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families | 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
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 |
|
Dr Marianela Schiava
Dr John Bourke
Meredith James
Dr Maha Elseed
Dr Monika Malinova
et al. | Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids | 2024 |
|
Professor Giorgio Tasca
| Hospital admissions from the emergency department of adult patients affected by myopathies | 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 |
|
Professor Giorgio Tasca
Giulia Ricci
| Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients | 2024 |
|
Professor Giorgio Tasca
| Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy | 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 |
|
Professor Giorgio Tasca
| 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands | 2023 |
|
Andy Bradley
Professor Giorgio Tasca
| A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy | 2023 |
|
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 |
|
Professor Giorgio Tasca
| Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series | 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 |
|
Professor Giorgio Tasca
| Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking | 2023 |
|
Professor Giorgio Tasca
| Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients. | 2023 |
|
Professor Giorgio Tasca
| Meeting report: The 2022 FSHD International Research Congress | 2023 |
|
Professor Giorgio Tasca
| Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study. | 2023 |
|
Professor Giorgio Tasca
Professor Chiara Marini Bettolo
Dr Ana Topf
Professor Michela Guglieri
Professor Volker Straub
et al. | Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis | 2023 |
|
Professor Giorgio Tasca
| Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease | 2023 |
|
Professor Giorgio Tasca
| Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies | 2023 |
|
Professor Giorgio Tasca
| Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD | 2023 |
|
Professor Giorgio Tasca
| D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients | 2022 |
|
Professor Giorgio Tasca
| Deep learning for automatic segmentation of thigh and leg muscles | 2022 |
|
Professor Giorgio Tasca
| Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort | 2022 |
|
Professor Giorgio Tasca
| Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning | 2022 |
|
Professor Giorgio Tasca
| Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy | 2022 |
|
Professor Giorgio Tasca
| European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders | 2022 |
|
Professor Giorgio Tasca
| Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study | 2022 |
|
Professor Giorgio Tasca
Professor Jordi Diaz Manera
| Genotype-phenotype correlations in valosin-containing protein disease: A retrospective muticentre study | 2022 |
|
Professor Giorgio Tasca
| Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature | 2022 |
|
Professor Giorgio Tasca
| NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy | 2022 |
|
Professor Giorgio Tasca
| Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients | 2022 |
|
Professor Giorgio Tasca
| Technology outcome measures in neuromuscular disorders: A systematic review | 2022 |
|
Professor Giorgio Tasca
| Thr124Met myelin protein zero mutation mimicking motor neuron disease | 2022 |
|
Professor Giorgio Tasca
| Upper body involvement in GNE myopathy assessed by muscle imaging | 2022 |
|
Professor Giorgio Tasca
| Anti-cN1A antibodies are associated with more severe dysphagia in sporadic inclusion body myositis | 2021 |
|
Professor Giorgio Tasca
| Eyelid closing and opening disorders in patients with unilateral brain lesions: A case report with video neuroimage and a systematic review of the literature | 2021 |
|
Professor Giorgio Tasca
| Fast Open-Source Toolkit for Water T2 Mapping in the Presence of Fat From Multi-Echo Spin-Echo Acquisitions for Muscle MRI | 2021 |
|
Professor Giorgio Tasca
| High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients | 2021 |
|
Daniel Cox
Professor Giorgio Tasca
Dr Richard Charlton
| INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH | 2021 |
|
Professor Giorgio Tasca
| Long-term Follow-up and Muscle Imaging Findings in Brachio-Cervical Inflammatory Myopathy | 2021 |
|
Professor Giorgio Tasca
| Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies | 2021 |
|
Professor Giorgio Tasca
| Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy | 2021 |
|
Professor Giorgio Tasca
| Redox homeostasis in muscular dystrophies | 2021 |
|
Professor Giorgio Tasca
| Texture analysis and machine learning to predict water T2 and fat fraction from non-quantitative MRI of thigh muscles in Facioscapulohumeral muscular dystrophy | 2021 |
|
Professor Giorgio Tasca
| SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum | 2020 |
|
Professor Giorgio Tasca
| A man with sarcoidosis and slurred speech | 2020 |
|
Professor Giorgio Tasca
| A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy | 2020 |
|
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
| Central nervous system immune reconstitution inflammatory syndrome after autologous stem cell transplantation | 2020 |
|
Professor Giorgio Tasca
| Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients | 2020 |
|
Roberto Fernandez Torron
Professor Chiara Marini Bettolo
Dr Jana Haberlova
Professor Volker Straub
Professor Giorgio Tasca
et al. | Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging | 2020 |
|
Professor Giorgio Tasca
| Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase | 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 |
|
Dr Rita Barresi
Professor Giorgio Tasca
Professor Jordi Diaz Manera
| Genotype–phenotype correlations in recessive titinopathies | 2020 |
|
Professor Giorgio Tasca
| Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage | 2020 |
|
Professor Giorgio Tasca
| MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients | 2020 |
|
Professor Michela Guglieri
Professor Volker Straub
Dr Anna Sarkozy
Dr Jana Haberlova
Professor Giorgio Tasca
et al. | New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy | 2020 |
|
Professor Giorgio Tasca
| Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy | 2020 |
|
Professor Giorgio Tasca
| Response to: SOD1 mutations in adult-onset distal spinal muscular atrophy | 2020 |
|
Professor Giorgio Tasca
Professor Volker Straub
| 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019 | 2019 |
|
Professor Giorgio Tasca
| 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands | 2019 |
|
Professor Giorgio Tasca
| Advances in quantitative imaging of genetic and acquired myopathies: Clinical applications and perspectives | 2019 |
|
Professor Giorgio Tasca
| An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy | 2019 |
|
Professor Giorgio Tasca
| Cytidine diphosphate-ribitol analysis for diagnostics and treatment monitoring of cytidine diphosphate-L-Ribitol pyrophosphorylase a muscular dystrophy | 2019 |
|
Professor Giorgio Tasca
| Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy | 2019 |
|
Professor Giorgio Tasca
| Muscle hypertrophy in amyloid myopathy | 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 Giorgio Tasca
| The variability of SMCHD1 gene in FSHD patients: Evidence of new mutations | 2019 |
|
Professor Giorgio Tasca
| Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging | 2019 |
|
Professor Giorgio Tasca
| Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy | 2018 |
|
Professor Giorgio Tasca
| Expanding the histopathological spectrum of CFL2-related myopathies | 2018 |
|
Professor Giorgio Tasca
| Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy | 2018 |
|
Professor Giorgio Tasca
| Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough | 2018 |
|
Professor Giorgio Tasca
| Interpreting genetic variants in titin in patients with muscle disorders | 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 Giorgio Tasca
| Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy | 2018 |
|
Professor Giorgio Tasca
| Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants /692/308 /692/699 article | 2018 |
|
Professor Giorgio Tasca
| Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia | 2018 |
|
Professor Giorgio Tasca
| Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort | 2018 |
|
Professor Giorgio Tasca
| Association study reveals novel risk loci for sporadic inclusion body myositis | 2017 |
|
Professor Giorgio Tasca
| Concentric muscle involvement in POLG-related distal myopathy | 2017 |
|
Professor Giorgio Tasca
| Erratum to: Muscle MRI in neutral lipid storage disease (NLSD) (Journal of Neurology, (2017), 264, 7, (1334-1342), 10.1007/s00415-017-8498-8) | 2017 |
|
Professor Giorgio Tasca
| Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity | 2017 |
|
Professor Giorgio Tasca
| Fasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement? [To the Editor] | 2017 |
|
Professor Giorgio Tasca
| Matrin 3 variants are frequent in Italian ALS patients | 2017 |
|
Professor Giorgio Tasca
Professor Jordi Diaz Manera
| Muscle MRI in neutral lipid storage disease (NLSD) | 2017 |
|
Professor Giorgio Tasca
| Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect | 2017 |
|
Professor Giorgio Tasca
| Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients | 2017 |
|
Professor Giorgio Tasca
| Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis | 2017 |
|
Professor Giorgio Tasca
| Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders | 2017 |
|
Professor Giorgio Tasca
| Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy | 2017 |
|
Professor Giorgio Tasca
| The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis | 2017 |
|
Professor Giorgio Tasca
| A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease | 2016 |
|
Professor Giorgio Tasca
| Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2 | 2016 |
|
Professor Giorgio Tasca
| Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York | 2016 |
|
Professor Giorgio Tasca
| Erratum: Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials (Brain (2011) 134 (3547-3559) DOI: 10.1093/brain/awr291) | 2016 |
|
Professor Giorgio Tasca
| Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials | 2016 |
|
Professor Giorgio Tasca
| MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients | 2016 |
|
Professor Giorgio Tasca
| New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis | 2016 |
|
Professor Giorgio Tasca
| New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients | 2016 |
|
Professor Giorgio Tasca
| POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking | 2016 |
|
Professor Giorgio Tasca
| Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods | 2016 |
|
Professor Giorgio Tasca
| TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy | 2016 |
|
Professor Giorgio Tasca
| The genetic basis of undiagnosed muscular dystrophies and myopathies | 2016 |
|
Professor Giorgio Tasca
| Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort | 2015 |
|
Professor Michela Guglieri
Professor Volker Straub
Professor Giorgio Tasca
| Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA | 2015 |
|
Professor Giorgio Tasca
| Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis | 2015 |
|
Professor Giorgio Tasca
| Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective | 2015 |
|
Professor Giorgio Tasca
| Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1 | 2015 |
|
Professor Giorgio Tasca
| Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations | 2015 |
|
Professor Giorgio Tasca
| Prevalence of congenital muscular dystrophy in Italy: A population study | 2015 |
|
Professor Giorgio Tasca
Professor Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al. | Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping | 2014 |
|
Professor Giorgio Tasca
| Calf muscle involvement in Becker muscular dystrophy: When size does not matter | 2014 |
|
Professor Giorgio Tasca
| Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations | 2014 |
|
Professor Giorgio Tasca
| Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 | 2014 |
|
Professor Giorgio Tasca
| Hereditary myopathy with early respiratory failure: Occurrence in various populations | 2014 |
|
Professor Giorgio Tasca
| Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L | 2014 |
|
Professor Giorgio Tasca
Dr Rita Barresi
Dr Anna Sarkozy
Dr Gerald Pfeffer
Dr Teresinha Evangelista
et al. | Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles | 2014 |
|
Professor Giorgio Tasca
| Upper girdle imaging in facioscapulohumeral muscular dystrophy | 2014 |
|
Professor Giorgio Tasca
Professor Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al. | Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy | 2012 |
|
Professor Giorgio Tasca
Professor Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
| Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. | 2011 |
|
Dr Rita Barresi
Professor Giorgio Tasca
Professor Volker Straub
| Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies | 2011 |
|
