All Stories

  1. Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

    Article • Clinical Genetics, December 2023, Wiley

    Giorgio Tasca

  2. Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study

    Article • Acta Neuropathologica Communications, October 2023, Springer Science + Business Media

    Giorgio Tasca

  3. 255th ENMC workshop: Muscle imaging in idiopathic inflammatory myopathies. 15th January, 16th January and 22nd January 2021 – virtual meeting and hybrid meeting on 9th and 19th September 2022 in Hoofddorp, The Netherlands

    Article • Neuromuscular Disorders, October 2023, Elsevier

    Giorgio Tasca

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

    Article • Neuromuscular Disorders, October 2023, Elsevier

    Giorgio Tasca

  5. Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

    Article • Cell Death and Disease, September 2023, Springer Science + Business Media

    Giorgio Tasca

  6. Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

    Article • Frontiers in Genetics, August 2023, Frontiers

    Giorgio Tasca

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

    Article • Journal of Neurology, August 2023, Springer Science + Business Media

    Giorgio Tasca

  8. A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

    Article • Annals of Clinical and Translational Neurology, July 2023, Wiley

    Giorgio Tasca

  9. Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

    Article • Acta Neuropathologica Communications, July 2023, Springer Science + Business Media

    Giorgio Tasca

  10. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

    Article • Neuropediatrics, May 2023, Thieme Publishing Group

    Giorgio Tasca

  11. Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

    Article • Brain and Development, May 2023, Elsevier

    Giorgio Tasca

  12. Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series

    Article • Diagnostics, March 2023, MDPI AG

    Giorgio Tasca

  13. Decoding Duchenne muscular dystrophy transcriptome to single nuclei level reveals clinical-genetic correlations

    Article • March 2023, Cold Spring Harbor Laboratory Press

    Giorgio Tasca

  14. Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease

    Article • Frontiers in Neurology, February 2023, Frontiers

    Giorgio Tasca

  15. ANCA-negative microscopic polyangiitis with neuromuscular involvement: When pathology could make the difference

    Article • Clinical Neurology and Neurosurgery, February 2023, Elsevier

    Giorgio Tasca

  16. Meeting report: The 2022 FSHD International Research Congress

    Article • Neuromuscular Disorders, February 2023, Elsevier

    Giorgio Tasca

  17. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

    Article • Genes, January 2023, MDPI AG

    Giorgio Tasca

  18. Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

    Article • Acta Neuropathologica Communications, January 2023, Springer Science + Business Media

    Giorgio Tasca

  19. 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands

    Article • Neuromuscular Disorders, January 2023, Elsevier

    Giorgio Tasca

  20. D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients

    Article • Cells, December 2022, MDPI AG

    Giorgio Tasca

  21. NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

    Article • Acta Neuropathologica Communications, December 2022, Springer Science + Business Media

    Giorgio Tasca

  22. Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Article • Brain, November 2022, Oxford University Press (OUP)

    Giorgio Tasca

  23. Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking

    Article • October 2022, Cold Spring Harbor Laboratory Press

    Giorgio Tasca

  24. Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients

    Article • Cell Death and Disease, September 2022, Springer Science + Business Media

    Giorgio Tasca

  25. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

    Article • European Journal of Neurology, September 2022, Wiley

    Giorgio Tasca

  26. Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Article • Journal of Neurology Neurosurgery & Psychiatry, July 2022, BMJ

    Giorgio Tasca

  27. Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy

    Article • Scientific Reports, May 2022, Springer Science + Business Media

    Giorgio Tasca

  28. Upper body involvement in GNE myopathy assessed by muscle imaging

    Article • Neuromuscular Disorders, May 2022, Elsevier

    Giorgio Tasca

  29. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

    Article • Acta Neuropathologica Communications, April 2022, Springer Science + Business Media

    Giorgio Tasca

  30. Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature

    Article • Medicina, March 2022, MDPI AG

    Giorgio Tasca

  31. Technology outcome measures in neuromuscular disorders: A systematic review

    Article • European Journal of Neurology, January 2022, Wiley

    Giorgio Tasca

  32. Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies

    Article • Clinical Neuropathology, November 2021, Dustri-Verlgag Dr. Karl Feistle

    Giorgio Tasca

  33. Deep learning for automatic segmentation of thigh and leg muscles

    Article • Magnetic Resonance Materials in Physics Biology and Medicine, October 2021, Springer Science + Business Media

    Giorgio Tasca

  34. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

    Article • Journal of Neurology, September 2021, Springer Science + Business Media

    Giorgio Tasca

  35. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

    Article • Journal of Neuropathology & Experimental Neurology, September 2021, Oxford University Press (OUP)

    Giorgio Tasca

  36. Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning

    Article • Journal of Neurology, September 2021, Springer Science + Business Media

    Giorgio Tasca

  37. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

    Article • Neuromuscular Disorders, September 2021, Elsevier

    Giorgio Tasca

  38. Thr124Met myelin protein zero mutation mimicking motor neuron disease

    Article • Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, July 2021, Taylor & Francis

    Giorgio Tasca

  39. Long-term Follow-up and Muscle Imaging Findings in Brachio-Cervical Inflammatory Myopathy

    Article • Neurology Neuroimmunology & Neuroinflammation, July 2021, Wolters Kluwer Health

    Giorgio Tasca

  40. Redox Homeostasis in Muscular Dystrophies

    Article • Cells, June 2021, MDPI AG

    Giorgio Tasca

  41. Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy

    Article • May 2021, Cold Spring Harbor Laboratory Press

    Giorgio Tasca

  42. Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis

    Article • Cells, May 2021, MDPI AG

    Giorgio Tasca

  43. Eyelid closing and opening disorders in patients with unilateral brain lesions: A case report with video neuroimage and a systematic review of the literature

    Article • Journal of Clinical Neuroscience, May 2021, Elsevier

    Dr Giacomo Della Marca, Giorgio Tasca

  44. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

    Article • Brain, April 2021, Oxford University Press (OUP)

    Giorgio Tasca

  45. Fast Open-Source Toolkit for Water T2 Mapping in the Presence of Fat From Multi-Echo Spin-Echo Acquisitions for Muscle MRI

    Article • Frontiers in Neurology, February 2021, Frontiers

    Giorgio Tasca

  46. Texture analysis and machine learning to predict water T2 and fat fraction from non-quantitative MRI of thigh muscles in Facioscapulohumeral muscular dystrophy

    Article • European Journal of Radiology, January 2021, Elsevier

    Giorgio Tasca

  47. Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy

    Article • International Journal of Molecular Sciences, December 2020, MDPI AG

    Giorgio Tasca

  48. 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

    Article • Neuromuscular Disorders, November 2020, Elsevier

    Giorgio Tasca

  49. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands

    Article • Neuromuscular Disorders, October 2020, Elsevier

    Giorgio Tasca

  50. 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

    Article • Frontiers in Genetics, September 2020, Frontiers

    Giorgio Tasca

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

    Article • Brain, September 2020, Oxford University Press (OUP)

    Giorgio Tasca

  52. Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy

    Article • Journal of the Neurological Sciences, September 2020, Elsevier

    Giorgio Tasca

  53. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

    Article • European Journal of Neurology, August 2020, Wiley

    Giorgio Tasca

  54. Genotype–phenotype correlations in recessive titinopathies

    Article • Genetics in Medicine, August 2020, Springer Science + Business Media

    Giorgio Tasca

  55. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

    Article • Frontiers in Neurology, July 2020, Frontiers

    Giorgio Tasca

  56. Response to: SOD1 mutations in adult‐onset distal spinal muscular atrophy

    Article • European Journal of Neurology, July 2020, Wiley

    Giorgio Tasca

  57. SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

    Article • European Journal of Neurology, April 2020, Wiley

    Giorgio Tasca

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

    Article • Neurology, February 2020, Wolters Kluwer Health

    Giorgio Tasca

  59. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

    Article • Journal of Neurology, November 2019, Springer Science + Business Media

    Giorgio Tasca

  60. MYO-MRI diagnostic protocols in genetic myopathies

    Article • Neuromuscular Disorders, November 2019, Elsevier

    Giorgio Tasca

  61. Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging

    Article • Journal of Cachexia Sarcopenia and Muscle, October 2019, Wiley

    Giorgio Tasca

  62. Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2019, Endocrine Society

    Giorgio Tasca

  63. The variability of SMCHD1 gene in FSHD patients: evidence of new mutations

    Article • Human Molecular Genetics, October 2019, Oxford University Press (OUP)

    Giorgio Tasca

  64. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

    Article • Journal of Neurology, September 2019, Springer Science + Business Media

    Giorgio Tasca

  65. A man with sarcoidosis and slurred speech

    Article • European Journal of Neurology, September 2019, Wiley

    Giorgio Tasca

  66. Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy

    Article • Clinical Chemistry, August 2019, AACC

    Giorgio Tasca

  67. Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

    Article • Acta Neuropathologica, June 2019, Springer Science + Business Media

    Giorgio Tasca

  68. Central nervous system immune reconstitution inflammatory syndrome after autologous stem cell transplantation

    Article • Bone Marrow Transplantation, May 2019, Springer Science + Business Media

    Giorgio Tasca

  69. An unusual ryanodine receptor 1 (RYR1) phenotype

    Article • Neurology, March 2019, Wolters Kluwer Health

    Giorgio Tasca

  70. Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

    Article • Frontiers in Neurology, February 2019, Frontiers

    Giorgio Tasca

  71. Muscle hypertrophy in amyloid myopathy

    Article • Neuromuscular Disorders, February 2019, Elsevier

    Giorgio Tasca

  72. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Article • Journal of Neurology Neurosurgery & Psychiatry, December 2018, BMJ

    Dr JULIO PARDO, Giorgio Tasca

  73. Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy

    Article • PLoS ONE, June 2018, PLOS

    Giorgio Tasca

  74. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Article • JAMA Neurology, May 2018, American Medical Association (AMA)

    Prof Corrado Angelini, Giorgio Tasca

  75. Expanding the histopathological spectrum of CFL2 -related myopathies

    Article • Clinical Genetics, March 2018, Wiley

    Giorgio Tasca

  76. Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough

    Article • Neuromuscular Disorders, March 2018, Elsevier

    Giorgio Tasca

  77. Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

    Article • The Cerebellum, February 2018, Springer Science + Business Media

    Giorgio Tasca

  78. Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

    Article • European Journal of Human Genetics, January 2018, Springer Science + Business Media

    Giorgio Tasca

  79. Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort

    Article • Journal of Neurology, January 2018, Springer Science + Business Media

    Giorgio Tasca

  80. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

    Article • European Journal of Paediatric Neurology, November 2017, Elsevier

    Giorgio Tasca

  81. MRI in sarcoglycanopathies: a large international cohort study

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2017, BMJ

    Giorgio Tasca

  82. Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients

    Article • Scientific Reports, August 2017, Springer Science + Business Media

    Giorgio Tasca

  83. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France

    Article • Neuromuscular Disorders, July 2017, Elsevier

    Giorgio Tasca

  84. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

    Article • Neuromuscular Disorders, July 2017, Elsevier

    Giorgio Tasca

  85. Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

    Article • Journal of Neurology, June 2017, Springer Science + Business Media

    Giorgio Tasca, Prof Corrado Angelini

  86. Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

    Article • Neuropathology and Applied Neurobiology, June 2017, Wiley

    Giorgio Tasca

  87. Muscle MRI in neutral lipid storage disease (NLSD)

    Article • Journal of Neurology, May 2017, Springer Science + Business Media

    Giorgio Tasca, Prof Corrado Angelini

  88. Concentric muscle involvement in POLG -related distal myopathy

    Article • Neuromuscular Disorders, May 2017, Elsevier

    Giorgio Tasca

  89. Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy

    Article • Molecular Neurobiology, April 2017, Springer Science + Business Media

    Giorgio Tasca

  90. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

    Article • Clinical Genetics, March 2017, Wiley

    Giorgio Tasca

  91. Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

    Article • Journal of Clinical Investigation, March 2017, American Society for Clinical Investigation

    Giorgio Tasca

  92. Association study reveals novel risk loci for sporadic inclusion body myositis

    Article • European Journal of Neurology, February 2017, Wiley

    Giorgio Tasca, Dr Hannes Lohi

  93. To the Editor

    Article • Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, February 2017, Cambridge University Press

    Giorgio Tasca

  94. Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis

    Article • Journal of Neurology, January 2017, Springer Science + Business Media

    Giorgio Tasca

  95. Matrin 3 variants are frequent in Italian ALS patients

    Article • Neurobiology of Aging, January 2017, Elsevier

    Giorgio Tasca

  96. Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

    Article • Molecular Neurobiology, October 2016, Springer Science + Business Media

    Giorgio Tasca

  97. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

    Article • Muscle & Nerve, October 2016, Wiley

    Prof Corrado Angelini, Giorgio Tasca

  98. TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

    Article • The American Journal of Human Genetics, October 2016, Elsevier

    Giorgio Tasca

  99. Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

    Article • Journal of Neurology, August 2016, Springer Science + Business Media

    Giorgio Tasca

  100. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

    Article • Orphanet Journal of Rare Diseases, July 2016, Springer Science + Business Media

    Giorgio Tasca

  101. The genetic basis of undiagnosed muscular dystrophies and myopathies

    Article • Neurology, June 2016, Wolters Kluwer Health

    Prof Corrado Angelini, Giorgio Tasca

  102. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

    Article • Journal of Molecular Neuroscience, April 2016, Springer Science + Business Media

    Giorgio Tasca

  103. Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

    Article • Annals of Neurology, April 2016, Wiley

    Giorgio Tasca

  104. Corrigendum

    Article • Brain, March 2016, Oxford University Press (OUP)

    Giorgio Tasca

  105. New ALS-Related Genes Expand theSpectrum Paradigmof Amyotrophic Lateral Sclerosis

    Article • Brain Pathology, March 2016, Wiley

    Giorgio Tasca

  106. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

    Article • Journal of Medical Genetics, February 2016, BMJ

    Giorgio Tasca

  107. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York

    Article • Neuromuscular Disorders, February 2016, Elsevier

    Giorgio Tasca

  108. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

    Article • Journal of Clinical Investigation, December 2015, American Society for Clinical Investigation

    Giorgio Tasca

  109. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

    Article • Neuromuscular Disorders, November 2015, Elsevier

    Giorgio Tasca

  110. Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

    Article • Muscle & Nerve, August 2015, Wiley

    Giorgio Tasca

  111. Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

    Article • Neuromuscular Disorders, August 2015, Elsevier

    Giorgio Tasca

  112. A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

    Article • European Journal of Human Genetics, July 2015, Springer Science + Business Media

    Giorgio Tasca

  113. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

    Article • Neuromuscular Disorders, July 2015, Elsevier

    Prof Corrado Angelini, Giorgio Tasca

  114. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

    Article • Journal of Neurology, May 2015, Springer Science + Business Media

    Giorgio Tasca

  115. Prevalence of congenital muscular dystrophy in Italy: A population study

    Article • Neurology, February 2015, Wolters Kluwer Health

    Giorgio Tasca

  116. Calf muscle involvement in Becker muscular dystrophy: When size does not matter

    Article • Journal of the Neurological Sciences, December 2014, Elsevier

    Giorgio Tasca

  117. Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

    Article • Neuromuscular Disorders, December 2014, Elsevier

    Giorgio Tasca

  118. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

    Article • Journal of Medical Genetics, October 2014, BMJ

    Giorgio Tasca

  119. Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

    Article • PLoS ONE, June 2014, PLOS

    Giorgio Tasca

  120. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

    Article • Journal of Neurology, February 2014, Springer Science + Business Media

    Giorgio Tasca

  121. Biochemical Characterization of Patients With In-Frame or Out-of-FrameDMDDeletions Pertinent to Exon 44 or 45 Skipping

    Article • JAMA Neurology, January 2014, American Medical Association (AMA)

    Giorgio Tasca

  122. Teaching Video NeuroImages: Complicated scapular winging

    Article • Neurology, September 2013, Wolters Kluwer Health

    Giorgio Tasca

  123. ‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

    Article • European Journal of Neurology, July 2013, Wiley

    Giorgio Tasca

  124. Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study

    Article • Neuromuscular Disorders, May 2013, Elsevier

    Giorgio Tasca

  125. Hereditary myopathy with early respiratory failure: occurrence in various populations

    Article • Journal of Neurology Neurosurgery & Psychiatry, April 2013, BMJ

    Prof Taneli Raivio, Giorgio Tasca

  126. Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

    Article • Neuromuscular Disorders, March 2013, Elsevier

    Giorgio Tasca

  127. Mitochondrial Network Genes in the Skeletal Muscle of Amyotrophic Lateral Sclerosis Patients

    Article • PLoS ONE, February 2013, PLOS

    Giorgio Tasca

  128. Limb-girdle muscular dystrophy with  -dystroglycan deficiency and mutations in the ISPD gene

    Article • Neurology, February 2013, Wolters Kluwer Health

    Giorgio Tasca

  129. Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions

    Article • Journal of Neurology, December 2012, Springer Science + Business Media

    Giorgio Tasca

  130. Muscle MRI in Becker muscular dystrophy

    Article • Neuromuscular Disorders, October 2012, Elsevier

    Giorgio Tasca

  131. Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

    Article • Acta Neuropathologica, September 2012, Springer Science + Business Media

    Giorgio Tasca

  132. Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

    Article • Muscle & Nerve, July 2012, Wiley

    Giorgio Tasca

  133. New phenotype and pathology features in MYH7-related distal myopathy

    Article • Neuromuscular Disorders, July 2012, Elsevier

    Giorgio Tasca

  134. Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

    Article • PLoS ONE, June 2012, PLOS

    Giorgio Tasca

  135. Muscle MRI in female carriers of dystrophinopathy

    Article • European Journal of Neurology, May 2012, Wiley

    Giorgio Tasca

  136. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

    Article • Neurology, March 2012, Wolters Kluwer Health

    Giorgio Tasca

  137. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

    Article • Nature Genetics, February 2012, Springer Science + Business Media

    Giorgio Tasca

  138. Muscle imaging findings in GNE myopathy

    Article • Journal of Neurology, January 2012, Springer Science + Business Media

    Giorgio Tasca

  139. Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation

    Article • Neuroscience Letters, January 2012, Elsevier

    Giorgio Tasca

  140. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

    Article • Brain, November 2011, Oxford University Press (OUP)

    Giorgio Tasca

  141. An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients

    Article • The Open Neurology Journal, October 2011, Bentham Science Publishers

    Dr Andrea Brancaccio, Giorgio Tasca

  142. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

    Article • Neuromuscular Disorders, March 2011, Elsevier

    Giorgio Tasca

  143. Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy

    Article • Neuropathology, December 2010, Wiley

    M.D., Ph.D. Nicola Montano, Giorgio Tasca

  144. CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI

    Article • Journal of Clinical Immunology, November 2010, Springer Science + Business Media

    Giorgio Tasca

  145. An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

    Article • Neuromuscular Disorders, November 2010, Elsevier

    Giorgio Tasca

  146. A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

    Article • Clinical Neurology and Neurosurgery, November 2010, Elsevier

    M.D., Ph.D. Nicola Montano, Giorgio Tasca

  147. A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

    Article • Journal of the Neurological Sciences, November 2010, Elsevier

    Giorgio Tasca

  148. Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

    Article • Neurological Sciences, October 2010, Springer Science + Business Media

    Giorgio Tasca

  149. Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

    Article • Neurology, July 2010, Wolters Kluwer Health

    Giorgio Tasca

  150. Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia

    Article • Journal of the Neurological Sciences, September 2009, Elsevier

    Ph.D Umberto Basile, Giorgio Tasca

  151. An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in theVCP gene

    Article • Muscle & Nerve, January 2008, Wiley

    Giorgio Tasca

  152. Isolation and Characterization of Mesoangioblasts from Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

    Article • Stem Cells, December 2007, Oxford University Press (OUP)

    Professor Giulio Cossu, Giorgio Tasca

  153. Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

    Article • The FASEB Journal, January 2007, Federation of American Societies For Experimental Biology (FASEB)

    Giorgio Tasca