M Filosto

Summary

Affiliation: University of Brescia
Country: Italy

Publications

  1. ncbi Mitochondrial DNA-related disorders
    Michelangelo Mancuso
    Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:31-7. 2007
  2. ncbi A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    J Neurol Sci 263:40-3. 2007
  3. pmc Non-muscle involvement in late-onset glycogenosis II
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    Acta Myol 32:91-4. 2013
  4. 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
  5. doi Clinical spectrum and evolution of monoclonal gammopathy-associated neuropathy: an observational study
    Massimiliano Filosto
    Unit of Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    Neurologist 18:378-84. 2012
  6. doi Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz le Spedali Civili 1, 25100 Brescia, Italy
    J Neurol 259:2699-706. 2012
  7. ncbi Neuropathology of mitochondrial diseases
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, p le Spedali Civili 1, 25100, Brescia, Italy
    Biosci Rep 27:23-30. 2007
  8. doi Disulfiram neuropathy: two cases of distal axonopathy
    Massimiliano Filosto
    University Hospital Spedali Civili, Brescia, Italy
    Clin Toxicol (Phila) 46:314-6. 2008
  9. doi Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz le Spedali Civili 1, 25100, Brescia, Italy
    J Inherit Metab Dis 34:1199-203. 2011
  10. doi The role of mitochondria in neurodegenerative diseases
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz le Spedali Civili 1, 25100, Brescia, Italy
    J Neurol 258:1763-74. 2011

Collaborators

Detail Information

Publications30

  1. ncbi Mitochondrial DNA-related disorders
    Michelangelo Mancuso
    Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
    Biosci Rep 27:31-7. 2007
    ..In this review, we briefly report an updated classification and overview the main clinical pictures of this class of diseases...
  2. ncbi A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    J Neurol Sci 263:40-3. 2007
    ..In this study, we describe a patient treated with high-dose bortezomib whose main clinical feature was severe sensory ataxia. Electrodiagnostic studies showed, other than axonal changes, myelin involvement...
  3. pmc Non-muscle involvement in late-onset glycogenosis II
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    Acta Myol 32:91-4. 2013
    ..Further studies aimed at evaluating the extra-muscle involvement in this group of patients will help to better define clinical features and prognostic factors and to delineate the natural history of the disease. ..
  4. 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...
  5. doi Clinical spectrum and evolution of monoclonal gammopathy-associated neuropathy: an observational study
    Massimiliano Filosto
    Unit of Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    Neurologist 18:378-84. 2012
    ..Progression of neuropathy is considered an alarm bell for possible malignant conversion of underlying monoclonal gammopathy (MG)...
  6. doi Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz le Spedali Civili 1, 25100 Brescia, Italy
    J Neurol 259:2699-706. 2012
    ....
  7. ncbi Neuropathology of mitochondrial diseases
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, p le Spedali Civili 1, 25100, Brescia, Italy
    Biosci Rep 27:23-30. 2007
    ..In this review we describe the main histopathological features of muscle and CNS lesions in mitochondrial diseases...
  8. doi Disulfiram neuropathy: two cases of distal axonopathy
    Massimiliano Filosto
    University Hospital Spedali Civili, Brescia, Italy
    Clin Toxicol (Phila) 46:314-6. 2008
    ..Axonal degeneration has been described as a pathological hallmark of disulfiram toxicity, but experiments have reported a primary toxic effect of the molecule on Schwann cells and myelin...
  9. doi Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz le Spedali Civili 1, 25100, Brescia, Italy
    J Inherit Metab Dis 34:1199-203. 2011
    ..A better understanding of the clinical heterogeneity of MNGIE is necessary in order to diagnose atypical cases and promote early diagnosis, which is now absolutely necessary in view of the new available therapies...
  10. doi The role of mitochondria in neurodegenerative diseases
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz le Spedali Civili 1, 25100, Brescia, Italy
    J Neurol 258:1763-74. 2011
    ..In this review, we discuss the role of mitochondria in the main neurodegenerative diseases and review the updated knowledge in this field...
  11. ncbi Mitochondrial diseases: a nosological update
    M Filosto
    Neurological Clinic, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili of Brescia, Brescia, Italy
    Acta Neurol Scand 115:211-21. 2007
    ..We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge...
  12. ncbi The brain in late-onset glycogenosis II: a structural and functional MRI study
    Barbara Borroni
    Neurology Unit, University of Brescia, Piazza Spedali Civili 1, 25125, Brescia, Italy
    J Inherit Metab Dis 36:989-95. 2013
    ..Despite evidence at autopsy of glycogen accumulation in the brain, no study exploring brain functions is yet available...
  13. ncbi Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy
    Massimiliano Filosto
    Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy
    J Neurol Sci 284:179-81. 2009
    ..We point out that an axonal neuropathy may complicate idiopathic HUV and suggest looking for peripheral nerve involvement in HUV patients...
  14. pmc Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
    G Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Italy
    Acta Myol 30:121-6. 2011
    ....
  15. ncbi Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy
    J Affect Disord 106:173-7. 2008
    ..However, they are rarely the only persistent manifestation of a MD and they are usually associated with other neurological or non-neurological features...
  16. pmc Mitochondrial DNA sequence variation and neurodegeneration
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy
    Hum Genomics 3:71-8. 2008
    ..In this review, some of the major neurodegenerative disorders are highlighted and the role of mitochondrial haplogroups in the pathogenetic cascade leading to these diseases is discussed...
  17. ncbi Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 444:83-6. 2008
    ..No significant difference was observed between different haplogroups and haplogroup clusters in the cognitive or motor progression of the disease. Our study does not support any association between mtDNA haplogroups and HD...
  18. doi Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction
    Daniele Orsucci
    Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
    Nutr Rev 67:427-38. 2009
    ..This article reviews the rationale for their use and their role in clinical practice in the context of MDs and other disorders involving mitochondrial dysfunction...
  19. ncbi Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
    Michelangelo Mancuso
    Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Neurosci Lett 371:158-62. 2004
    ..Further it may help elucidate the mechanism of the mitochondrial dysfunction detectable in ALS, and may be of relevance in development of strategies for the treatment of this disease...
  20. ncbi 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
    ....
  21. ncbi Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene
    Michelangelo Mancuso
    Department of Neurology, 4 420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    J Neurol Sci 209:61-3. 2003
    ..This mutation fulfills all accepted criteria for pathogenicity...
  22. ncbi Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Arch Neurol 60:1007-9. 2003
    ..Mutations in 2 genes involved in deoxyribonucleotide metabolism, the deoxyguanosine kinase gene (DGK) and the thymidine kinase 2 gene (TK2), have been related to this syndrome...
  23. ncbi 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...
  24. ncbi Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
    Massimiliano Filosto
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Ann Neurol 54:524-6. 2003
    ..We did not observe paternal inheritance in any of our patients...
  25. ncbi Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy
    Fuki M Hisama
    Am J Med Genet A 135:217-9. 2005
  26. ncbi Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1445-7. 2003
    ..To document 2 apparently incongruous clinical disorders occurring in the same infant: congenital myopathy with myophosphorylase deficiency (McArdle disease) and mitochondrial hepatopathy with liver failure and mitochondrial DNA depletion...
  27. doi 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"...
  28. ncbi A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Arch Neurol 61:1777-9. 2004
    ..Extrapyramidal signs have been rarely described...
  29. ncbi Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
    Gianfrancesco Ferrari
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Institute of Neurology, Milano, Italy
    Brain 128:723-31. 2005
    ....
  30. ncbi Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases
    Massimiliano Filosto
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Policlinico G B Rossi, P le L A Scuro 10, 37134 Verona, Italy
    Acta Neuropathol 103:215-20. 2002
    ..In addition, we suggest that expression of MnSOD and GSH may be considered an initial, indirect sign of respiratory chain dysfunction because it is observed in the early stages of the disease...