Affiliation: University of Verona
- Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0Alessandro 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...
- Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old DiseaseA 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...
- Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalyFilippo 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...
- Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena 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...
- A novel missense mutation in the L1CAM gene in a boy with L1 diseaseA 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...
- Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutationsAlessandro Simonati
Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona, Italy
Pediatr Neurol 40:271-6. 2009....
- 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....
- Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher diseaseAlessandro 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...
- PMP22 related congenital hypomyelination neuropathyG 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...
- Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zeroG M Fabrizi
Department of Neurological and Visual Sciences, University of Verona, Policlinico Giambattista Rossi, Italy
Acta Neuropathol 100:299-304. 2000....
- Cell proliferation and death: morphological evidence during corticogenesis in the developing human brainA 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...
- High-field magnetic resonance imaging of the developing human brain from the 10th to the 16th week of gestational AgeA 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...
- Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imagingAndrea 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...
- A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCLA 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...
- Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22G 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...
- The role of muscle biopsy in investigating isolated muscle painM 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...
- Early white matter involvement in an infant carrying a novel mutation in ACOX1R 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. ..
- Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutationMassimiliano 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...
- Neuropathology of mitochondrial diseasesMassimiliano 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...
- Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the MediterraneanNatalia 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...
- Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco 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....
- The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumHeidi 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...
- 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 VEnnio 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...