Marina Grandis

Summary

Affiliation: University of Genoa
Country: Italy

Publications

  1. doi request reprint Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
    Marina Grandis
    Department of Neurosciences, Ophthalmology and Genetics, Universityof Genova, 16132 Genova, Italy
    Hum Mol Genet 17:1877-89. 2008
  2. doi request reprint The spectrum of GNE mutations: allelic heterogeneity for a common phenotype
    Marina Grandis
    Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via De Toni 5, 16132, Genoa, Italy
    Neurol Sci 31:377-80. 2010
  3. doi request reprint Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy
    Lucilla Nobbio
    Department of Neurosciences, Ophthalmology and Genetics, Center of Excellence for Biomedical Research, University of Genoa, Italy
    J Neuropathol Exp Neurol 68:441-55. 2009
  4. doi request reprint HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients
    Simona Capponi
    Department of Neuroscience, Ophthalmology and Genetics Section of Medical Genetics, University of Genoa, Genoa, Italy
    J Peripher Nerv Syst 16:287-94. 2011
  5. pmc Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
    Paola Mandich
    Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Genoa, Italy
    Eur J Hum Genet 17:1129-34. 2009
  6. doi request reprint Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene
    Paola Mandich
    Department of Neurosciences, Ophthalmology and Genetics Section of Medical Genetics, University of Genova, Genova, Italy
    J Child Neurol 25:107-9. 2010
  7. ncbi request reprint Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy
    Luana Benedetti
    Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Via De Toni 5, 16132 Genova, Italy
    Arch Neurol 64:1531-3. 2007
  8. ncbi request reprint Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease
    Marina Grandis
    Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Via De Toni 5, 16132 Genoa, Italy
    Exp Neurol 190:213-23. 2004
  9. pmc Gain of glycosylation: a new pathomechanism of myelin protein zero mutations
    Valeria Prada
    Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Genoa, Italy
    Ann Neurol 71:427-31. 2012
  10. doi request reprint A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
    Olimpia Musumeci
    Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
    Neurol Sci 32:665-8. 2011

Detail Information

Publications17

  1. doi request reprint Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
    Marina Grandis
    Department of Neurosciences, Ophthalmology and Genetics, Universityof Genova, 16132 Genova, Italy
    Hum Mol Genet 17:1877-89. 2008
    ..Further characterization of these pathways will lead to a better understanding of the pathogenesis of CMT1B and a rational basis for treating these debilitating inherited neuropathies...
  2. doi request reprint The spectrum of GNE mutations: allelic heterogeneity for a common phenotype
    Marina Grandis
    Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via De Toni 5, 16132, Genoa, Italy
    Neurol Sci 31:377-80. 2010
    ..The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression...
  3. doi request reprint Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy
    Lucilla Nobbio
    Department of Neurosciences, Ophthalmology and Genetics, Center of Excellence for Biomedical Research, University of Genoa, Italy
    J Neuropathol Exp Neurol 68:441-55. 2009
    ..Moreover, the observations suggest that trophic support to the axon is impaired in CMT1A and that further studies on the therapeutic use of trophic factors or their derivatives in experimental and human CMT1A are warranted...
  4. doi request reprint HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients
    Simona Capponi
    Department of Neuroscience, Ophthalmology and Genetics Section of Medical Genetics, University of Genoa, Genoa, Italy
    J Peripher Nerv Syst 16:287-94. 2011
    ..Recent literature data suggest a continuum between dHMN and CMT2. We confirm this finding in our cohort, proposing a definite relationship between these disorders...
  5. pmc Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
    Paola Mandich
    Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Genoa, Italy
    Eur J Hum Genet 17:1129-34. 2009
    ....
  6. doi request reprint Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene
    Paola Mandich
    Department of Neurosciences, Ophthalmology and Genetics Section of Medical Genetics, University of Genova, Genova, Italy
    J Child Neurol 25:107-9. 2010
    ..This is the first truncating nonsense mutation in the small heat-shock protein 27 gene identified so far and the clinical, neurophysiologic, and neuropathological findings are discussed...
  7. ncbi request reprint Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy
    Luana Benedetti
    Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Via De Toni 5, 16132 Genova, Italy
    Arch Neurol 64:1531-3. 2007
    ..To describe the unique case of a patient with multiple sclerosis (MS) and anti-myelin-associated glycoprotein (MAG) polyneuropathy who developed MS relapses after treatment with rituximab...
  8. ncbi request reprint Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease
    Marina Grandis
    Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Via De Toni 5, 16132 Genoa, Italy
    Exp Neurol 190:213-23. 2004
    ..However, the presence of a molecular and functional damage of the axons suggests that this may be the correct moment to start neuroprotective therapies...
  9. pmc Gain of glycosylation: a new pathomechanism of myelin protein zero mutations
    Valeria Prada
    Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Genoa, Italy
    Ann Neurol 71:427-31. 2012
    ..By sequential experiments, we demonstrated that hyperglycosylation is the main mechanism of this mutation. Gain of glycosylation is a new mechanism in Charcot-Marie-Tooth type 1B...
  10. doi request reprint A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
    Olimpia Musumeci
    Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
    Neurol Sci 32:665-8. 2011
    ..608C>G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10...
  11. doi request reprint Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
    Paola Mandich
    Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, c o DIMI, Viale Benedetto XV, 6, 16132 Genova, Italy
    J Hum Genet 53:529-33. 2008
    ..2 duplication, regardless of the gender of the proband, as well as in CMT2 patients with possible X-linked inheritance...
  12. ncbi request reprint Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M
    Luana Benedetti
    Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova, Italy
    J Peripher Nerv Syst 12:102-7. 2007
    ..These findings suggest that antibody reduction below a critical level may be necessary to achieve clinical improvement...
  13. ncbi request reprint Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease
    Lucilla Nobbio
    Department of Neurosciences, Ophthalmology and Genetics, University of Genova, 16132 Genova, Italy
    Neurobiol Dis 16:263-73. 2004
    ..In conclusion, exposure of PMP22(tg) Schwann to the axon or to axonal-mimicking stimuli significantly affects the transition of transgenic Schwann cells to the myelinating phenotype...
  14. ncbi request reprint Inherited neuropathies
    Angelo Schenone
    Department of Neuroscience, Ophthalmology, and Genetics, University of Genoa, Via De Toni 5, 16132, Genova, Italy
    Curr Treat Options Neurol 13:160-79. 2011
    ..No evidence suggests any specific surgical intervention or change in diet or lifestyle for patients affected by various types of CMT...
  15. ncbi request reprint Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration
    Jun Li
    Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    J Comp Neurol 498:252-65. 2006
    ..This report represents the first study in which the molecular basis of axonal degeneration in the late-onset CMT1B has been explored in human tissue...
  16. ncbi request reprint Phenotypic clustering in MPZ mutations
    Michael E Shy
    Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Brain 127:371-84. 2004
    ..In contrast, late onset neuropathy is caused by mutations that more subtly alter myelin structure and which probably disrupt Schwann cell-axonal interactions...
  17. ncbi request reprint Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside
    Jun Li
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Brain 128:1168-77. 2005
    ..Taken together, our data suggest that skin biopsy may in certain circumstances replace the more invasive sural nerve biopsy in the morphological and molecular evaluation of inherited and other demyelinating neuropathies...