Paola Tonin

Summary

Affiliation: Azienda Ospedaliera di Verona
Country: Italy

Publications

  1. doi request reprint Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene
    Paola Tonin
    Department of Neurological Sciences and Vision, Section of Neurology, University of Verona, 37134 Verona, Italy
    Neuromuscul Disord 19:776-8. 2009
  2. doi request reprint Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation
    Gaetano Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    J Neuropathol Exp Neurol 69:246-52. 2010
  3. ncbi request reprint The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy
    Mauro Scarpelli
    Department of Neurological and Movement Sciences, Section of Neurology, University of Verona Verona, Italy
    Neuroradiol J 26:520-30. 2013
  4. ncbi request reprint Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
    Alessandro Simonati
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, Policlinico GB Rossi, P le LA Scuro 1, 37134 Verona, Italy
    J Neurol 250:702-6. 2003
  5. doi request reprint Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency
    Gaetano Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    Neurologist 18:306-9. 2012
  6. doi request reprint Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
    Massimiliano Filosto
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Italy
    Neuromuscul Disord 18:204-9. 2008
  7. doi request reprint Endothelial dysfunction and increased oxidative stress in mitochondrial diseases
    Pietro Minuz
    Department of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy
    Clin Sci (Lond) 122:289-97. 2012
  8. pmc Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
    Mauro Scarpelli
    Clinical Neurology, Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy
    Case Rep Neurol 4:248-53. 2012
  9. pmc Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient
    Mauro Scarpelli
    Division of Clinical Neurology, Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, 37134 Verona, Italy
    Genet Res Int 2012:287432. 2012
  10. ncbi request reprint SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy
    Giuliano Tomelleri
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    Brain 129:2085-92. 2006

Collaborators

  • Giuliano Tomelleri
  • Gaetano Vattemi
  • Alessandra Ferlini
  • Francesca Gualandi
  • Pietro Minuz
  • Giuseppe Novelli
  • Claudio Bruno
  • Mauro Scarpelli
  • Massimiliano Filosto
  • Francesca Zappini
  • Anna Russignan
  • Alessandro Padovani
  • Alessandro Simonati
  • Nicolo Rizzuto
  • Chiara Savio
  • Maria Sofia Cotelli
  • Michelangelo Mancuso
  • Isabella Zocca
  • Alberto Beltramello
  • Francesca Calabria
  • Giuseppe Kenneth Ricciardi
  • Bridget E Bax
  • Romina Buono
  • Melinda Zombor
  • Csaba Bereczki
  • Carla Baronchelli
  • Valeria Gregorelli
  • Alice Todeschini
  • Valentina Vielmi
  • Vittorio Govoni
  • Francesca Greco
  • Rossella Tupler
  • Bernardo Dalla Bernardina
  • Alberto Polo

Detail Information

Publications13

  1. doi request reprint Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene
    Paola Tonin
    Department of Neurological Sciences and Vision, Section of Neurology, University of Verona, 37134 Verona, Italy
    Neuromuscul Disord 19:776-8. 2009
    ..Our case expands the clinical spectrum of PGAM deficiency and suggests that the frequency of this metabolic myopathy may be underestimated...
  2. doi request reprint Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation
    Gaetano Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    J Neuropathol Exp Neurol 69:246-52. 2010
    ..In addition, we describe 2 novel mutations in the ATP2A1 gene...
  3. ncbi request reprint The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy
    Mauro Scarpelli
    Department of Neurological and Movement Sciences, Section of Neurology, University of Verona Verona, Italy
    Neuroradiol J 26:520-30. 2013
    ..Serial MRIs in untreated and treated MNGIE patients will help to establish whether the leukoencephalopathy is a reversible condition or not. ..
  4. ncbi request reprint Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
    Alessandro Simonati
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, Policlinico GB Rossi, P le LA Scuro 1, 37134 Verona, Italy
    J Neurol 250:702-6. 2003
    ..Involvement of the sensory pathways is regarded as a major feature of juvenile AHD...
  5. doi request reprint Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency
    Gaetano Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    Neurologist 18:306-9. 2012
    ..Nevertheless, calpainopathy is not always associated with mutations in the specific gene and secondary reduction in protein expression has been described...
  6. doi request reprint Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
    Massimiliano Filosto
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Italy
    Neuromuscul Disord 18:204-9. 2008
    ..This is the first reported case of mitochondrial myopathy/facioscapulohumeral muscular dystrophy (FSHD) "double trouble"...
  7. doi request reprint Endothelial dysfunction and increased oxidative stress in mitochondrial diseases
    Pietro Minuz
    Department of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy
    Clin Sci (Lond) 122:289-97. 2012
    ..58±0.30%), thus abolishing the differences between patients and controls. The results of the present study indicate that oxidative stress is increased and is, at least partly, responsible for endothelial dysfunction in MDs...
  8. pmc Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
    Mauro Scarpelli
    Clinical Neurology, Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy
    Case Rep Neurol 4:248-53. 2012
    ..MNGIE should be suspected in all patients who present with both gastrointestinal and nervous system involvement, even if the classical complete phenotype is lacking...
  9. pmc Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient
    Mauro Scarpelli
    Division of Clinical Neurology, Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, 37134 Verona, Italy
    Genet Res Int 2012:287432. 2012
    ..Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders...
  10. ncbi request reprint SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy
    Giuliano Tomelleri
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    Brain 129:2085-92. 2006
    ..Our cases, both sporadic and familial, represent a new type of surplus protein myopathy...
  11. pmc Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement
    Gaetano Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Italy
    Mol Cell Proteomics 10:M110.002964. 2011
    ..The present results provide evidence that in MD the vessel wall is a target of increased oxidative/nitrative stress...
  12. ncbi request reprint Current options in the treatment of mitochondrial diseases
    Mauro Scarpelli
    Department of Neurological Sciences and Vision, University of Verona, Verona, Italy
    Recent Pat CNS Drug Discov 5:203-9. 2010
    ..Here, we discussed some recent patents. Progresses in each of these fields may open interesting perspectives for the future...
  13. ncbi request reprint Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
    Alessandro Simonati
    Department of Neurological and Visual Sciences, Section of Neurology, Policlinico GB Rossi, University of Verona, P le LA Scuro 1, 37134 Verona, Italy
    Acta Neuropathol 106:57-65. 2003
    ....