A Simonati

Summary

Affiliation: University of Verona
Country: Italy

Publications

  1. ncbi request reprint Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
    Alessandro Simonati
    Department of Neurological and Visual Science, Section of Clinical Neurology, Policlinico GB Rossi, P le LA Scuro 1, 37134 Verona, Italy
    J Neurol 249:1298-302. 2002
  2. ncbi request reprint Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease
    A Simonati
    Department of Neurological and Movement Sciences Neurology and Neuropathology, Policlinico GB Rossi, P le LA Scuro, 37134 Verona, Italy
    Curr Mol Med . 2014
  3. pmc Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
    Filippo Maria Santorelli
    Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy
    Orphanet J Rare Dis 8:19. 2013
  4. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
  5. ncbi request reprint A novel missense mutation in the L1CAM gene in a boy with L1 disease
    A Simonati
    Department of Neurological and Visual Science, Section of Clinical Neurology Child Neurology Unit, Policlinico G B Rossi, Verona, and Department of Biology, Laboratory of Human Genetics, University of Pauda, Italy
    Neurol Sci 27:114-7. 2006
  6. doi request reprint Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations
    Alessandro Simonati
    Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona, Italy
    Pediatr Neurol 40:271-6. 2009
  7. 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
  8. 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
  9. pmc PMP22 related congenital hypomyelination neuropathy
    G M Fabrizi
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Policlinico Giambattista Rossi, Via delle Menegone 10, 37134 Verona, Italy
    J Neurol Neurosurg Psychiatry 70:123-6. 2001
  10. ncbi request reprint Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
    G M Fabrizi
    Department of Neurological and Visual Sciences, University of Verona, Policlinico Giambattista Rossi, Italy
    Acta Neuropathol 100:299-304. 2000

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
    Alessandro Simonati
    Department of Neurological and Visual Science, Section of Clinical Neurology, Policlinico GB Rossi, P le LA Scuro 1, 37134 Verona, Italy
    J Neurol 249:1298-302. 2002
    ..Molecular analysis of peripheral myelin genes will help to rule out misdiagnosed cases...
  2. ncbi request reprint Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease
    A Simonati
    Department of Neurological and Movement Sciences Neurology and Neuropathology, Policlinico GB Rossi, P le LA Scuro, 37134 Verona, Italy
    Curr Mol Med . 2014
    ..Evidences that autophagy, oxidative stress, excitotoxicity paly roles in NCL cell pathology raise the possibility that selected steps of these processes might become target of treatments, and therefore modify the disease course...
  3. pmc Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
    Filippo Maria Santorelli
    Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy
    Orphanet J Rare Dis 8:19. 2013
    ..To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations...
  4. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
    ..PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients...
  5. ncbi request reprint A novel missense mutation in the L1CAM gene in a boy with L1 disease
    A Simonati
    Department of Neurological and Visual Science, Section of Clinical Neurology Child Neurology Unit, Policlinico G B Rossi, Verona, and Department of Biology, Laboratory of Human Genetics, University of Pauda, Italy
    Neurol Sci 27:114-7. 2006
    ..The feature peculiar to this patient is the decelerated head growth post-natally, leading to microcephaly. Mutations of L1CAM associated with prolonged survival may hamper post-natal brain and head growth...
  6. doi request reprint Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations
    Alessandro Simonati
    Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona, Italy
    Pediatr Neurol 40:271-6. 2009
    ....
  7. 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
    ....
  8. 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...
  9. pmc PMP22 related congenital hypomyelination neuropathy
    G M Fabrizi
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Policlinico Giambattista Rossi, Via delle Menegone 10, 37134 Verona, Italy
    J Neurol Neurosurg Psychiatry 70:123-6. 2001
    ..The reported case suggests that missense point mutations may alter a putative role of PMP22 in modulating Schwann cell growth and differentiation...
  10. ncbi request reprint Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
    G M Fabrizi
    Department of Neurological and Visual Sciences, University of Verona, Policlinico Giambattista Rossi, Italy
    Acta Neuropathol 100:299-304. 2000
    ....
  11. ncbi request reprint Cell proliferation and death: morphological evidence during corticogenesis in the developing human brain
    A Simonati
    Dipartimento di Scienze Neurologiche e della Visione, Sezione di Clinica Neurologica, Universita di Verona 37134 Verona, Italy
    Microsc Res Tech 45:341-52. 1999
    ..The prolonged duration of the cell-cycle in the human developing CNS may explain its increased vulnerability to various DNA-damaging conditions, which can lead to either destructive lesions or malformations...
  12. ncbi request reprint High-field magnetic resonance imaging of the developing human brain from the 10th to the 16th week of gestational Age
    A Sbarbati
    Institute of Anatomy and Histology, University of Verona, Italy
    Acta Anat (Basel) 163:39-46. 1998
    ..This technique can provide information about the morphology of the encephalic vesicles and their relations with the bone cavity that cannot be obtained with conventional methods and may be a useful adjunct to histological techniques...
  13. pmc Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imaging
    Andrea Sbarbati
    Department of Morphological Biomedical Sciences, Section of Anatomy and Histology, University of Verona, Italy
    J Anat 204:465-74. 2004
    ..The method provides a quantitative profiling of the brain, which allows the calculation of important morphological parameters, and it provides informative regarding transient features of the developing brain...
  14. ncbi request reprint A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL
    A Simonati
    Department of Neurological Sciences, University of Verona, Italy
    Neuropediatrics 31:199-201. 2000
    ..Any relationship between the severe clinical features of our patient and the homozygous mutation here reported must be investigated on a larger number of LINCL patients bearing the same mutation...
  15. ncbi request reprint Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22
    G M Fabrizi
    Department of Neurological and Visual Sciences, University of Verona, Italy
    Neurology 53:846-51. 1999
    ..The most common cause of Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a PMP22 gene duplication. Missense point mutations in the transmembrane domains are rare alternative causes that have undetermined pathogenetic mechanisms...
  16. ncbi request reprint The role of muscle biopsy in investigating isolated muscle pain
    M Filosto
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, P le L A Scuro 10, 37134 Verona, Italy
    Neurology 68:181-6. 2007
    ..To evaluate the muscle biopsy findings from 240 patients who had isolated muscle pain...
  17. doi request reprint Early white matter involvement in an infant carrying a novel mutation in ACOX1
    R Masson
    Department of Neuroscience, Biomedicine, Movement Neurology Child Neurology and Psychiatry, University of Verona, Italy
    Eur J Paediatr Neurol 20:431-4. 2016
    ..The white matter involvement, which followed an ascending trajectory from cerebellar and brainstem structures to the cerebral hemispheres, seemed to originate from the perinuclear white matter of the deep cerebellar nuclei. ..
  18. ncbi request reprint Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
    Massimiliano Filosto
    Department of Neurological and Visual Sciences, Section of Neurology, University of Verona, Policlinico GB Rossi, 37134, Verona, Italy
    Acta Neuropathol 108:168-71. 2004
    ..Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement...
  19. ncbi request reprint 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...
  20. ncbi request reprint Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean
    Natalia Cannelli
    Molecular Medicine IRCCS Children Hospital Bambino Gesù Piazza S Onofrio, 4 00165, Rome, Italy
    Neurogenetics 7:111-7. 2006
    ..The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population...
  21. ncbi request reprint 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
    ....
  22. ncbi request reprint The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
    Heidi C Howard
    Centre for Research in Neuroscience, McGill University and The Montreal General Hospital Research Institute, 1650 Cedar Ave, Montreal, Quebec H3G 1A4, Canada
    Nat Genet 32:384-92. 2002
    ..Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system...
  23. ncbi request reprint No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
    Ennio Toscano
    Department of Pediatrics, Federico II University, Naples, Italy
    Ann Neurol 52:224-7. 2002
    ..These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients...