Gian Maria Fabrizi

Summary

Affiliation: University of Verona
Country: Italy

Publications

  1. ncbi request reprint Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
    Gian Maria Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy
    Brain 130:394-403. 2007
  2. doi request reprint Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
    G M Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Ospedale Policlinico G B Rossi, P le L A Scuro 10, 37134 Verona, Italy
    Neurology 72:1160-4. 2009
  3. ncbi request reprint Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
    G M Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Verona, Italy
    Neurology 69:291-5. 2007
  4. ncbi request reprint Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B
    Gian Maria Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Policlinico G B Rossi, P le L A Scuro 10, 37134 Verona, Italy
    Neuromuscul Disord 16:183-7. 2006
  5. ncbi request reprint Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
    G M Fabrizi
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy
    Neurology 62:1429-31. 2004
  6. doi request reprint Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype
    Federica Taioli
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, Section of Neuropathology, University of Verona, Verona, Italy
    J Peripher Nerv Syst 17:414-7. 2012
  7. doi request reprint Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients
    Manuel Cappellari
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona
    J Peripher Nerv Syst 16:119-29. 2011
  8. ncbi request reprint A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization
    Moreno Ferrarini
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy
    J Neurol Sci 260:219-24. 2007
  9. 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
  10. doi request reprint Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene
    Federica Taioli
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, 37134 Verona, Italy
    Brain 134:608-17. 2011

Collaborators

Detail Information

Publications24

  1. ncbi request reprint Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
    Gian Maria Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy
    Brain 130:394-403. 2007
    ..The pathological phenotype correlated with the pattern of nerve conduction alterations and indicated that NEFL mutations cause a profound alteration of the cytoskeleton possibly related to defective targeting of NF...
  2. doi request reprint Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
    G M Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Ospedale Policlinico G B Rossi, P le L A Scuro 10, 37134 Verona, Italy
    Neurology 72:1160-4. 2009
    ..Mutations in the FGD4 gene encoding the Rho-GTPase guanine-nucleotide-exchange-factor frabin were reported in five families...
  3. ncbi request reprint Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
    G M Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Verona, Italy
    Neurology 69:291-5. 2007
    ..Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B...
  4. ncbi request reprint Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B
    Gian Maria Fabrizi
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Policlinico G B Rossi, P le L A Scuro 10, 37134 Verona, Italy
    Neuromuscul Disord 16:183-7. 2006
    ..The authors conclude that mutations of P0ic may undergo a gene dosage effect manifesting semidominant inheritance...
  5. ncbi request reprint Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
    G M Fabrizi
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy
    Neurology 62:1429-31. 2004
    ..NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0...
  6. doi request reprint Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype
    Federica Taioli
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, Section of Neuropathology, University of Verona, Verona, Italy
    J Peripher Nerv Syst 17:414-7. 2012
    ..Authors suggest that mutations of CMT-related genes which originate in post-zygotic stages may be associated with mild phenotypes of peripheral neuropathy...
  7. doi request reprint Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients
    Manuel Cappellari
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona
    J Peripher Nerv Syst 16:119-29. 2011
    ..TTR should be tested in a wide clinical spectrum of cryptogenetic, progressive, and motor-sensory neuropathies even manifesting with a very late onset...
  8. ncbi request reprint A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization
    Moreno Ferrarini
    Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy
    J Neurol Sci 260:219-24. 2007
    ..Expression studies by Western blotting on fibroblasts demonstrated that the homozygous Val230Gly mutation was associated with decreased levels of APTX indicating a loss-of-function mechanism...
  9. 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
    ....
  10. doi request reprint Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene
    Federica Taioli
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, 37134 Verona, Italy
    Brain 134:608-17. 2011
    ..Glu60_Ala106del); the predicted shorter protein could exert variable molecular effects. In conclusion, micromutations of PMP22 cause a clinical and pathological continuum of demyelinating neuropathies that may include atypical phenotypes...
  11. doi request reprint Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene
    Federica Taioli
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy
    J Peripher Nerv Syst 16:59-64. 2011
    ..The report highlighted the possible pathogenic role of synonymous MPZ mutations and difficulties in interpreting results from routine mutational screenings...
  12. doi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study
    S Mazzucco
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy
    Eur Neurol 61:46-9. 2009
    ..We sought to determine the prevalence of RLS in CADASIL patients with different Notch3 mutations, both with and without migraine as a clinical feature...
  13. 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...
  14. ncbi request reprint A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B
    G M Fabrizi
    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy
    Neurology 57:101-5. 2001
    ..To identify the molecular basis of a demyelinating Charcot-Marie-Tooth disease type 1 (CMT1) with presumed autosomal recessive inheritance...
  15. doi request reprint Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene
    Silvia Testi
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, Section of Neuropathology, University of Verona, Verona, Italy
    J Alzheimers Dis 31:7-11. 2012
    ..We confirmed the pathogenicity of PSEN2 p.Met239Ile mutation and its heterogeneous phenotypic expression. The modulating effect of the Apolipoprotein E and Prion Protein gene polymorphisms on the phenotypic variability was not confirmed...
  16. 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...
  17. 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...
  18. doi request reprint Autonomic nervous system involvement in a new CMT2B family
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Naples, Italy
    J Peripher Nerv Syst 17:361-4. 2012
    ..Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease...
  19. ncbi request reprint Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation
    M Ragno
    Division of Neurology, C and G Mazzoni Hospital, Ascoli Piceno, and Department of Neurological and Visual Science, University of Verona, Italy
    Neurol Sci 28:181-4. 2007
    ..Here, we describe the genetical, clinical, neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution...
  20. ncbi request reprint Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation
    R Del Colle
    Department of Neurology, Legnago Hospital, Via Gianella 1, I 37045 Legnago VR, Italy
    Neurol Sci 24:57-60. 2003
    ..In conclusion, the diagnosis of HNPP should be invoked in early onset entrapment neuropathies...
  21. ncbi request reprint An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy
    Roberta Frigerio
    Department of Neuroscience and Biomedical Technologies, University of Milano Bicocca, Monza, Italy
    Amyloid 11:121-4. 2004
    ..This mutation has been previously reported only twice, without complete clinical descriptions...
  22. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    ..Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes...
  23. ncbi request reprint A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]
    Davide Pareyson
    Department of Biochemistry and Genetics, C Besta National Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    Pharmacol Res 54:436-41. 2006
    ..In consenting patients from three centers, skin biopsy is performed to evaluate PMP22 expression. The study will last 34 months, starting from March 2006...
  24. ncbi request reprint Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants
    Alessandra Fontanini
    Dipartimento di Scienze e Tecnologie Biomediche, Sezione di Biologia and MATI Center of Excellence, Universita di Udine, Piazza le Kolbe 4, 33100 Udine, Italy
    J Biol Chem 280:2378-87. 2005
    ..Our results support emerging models for a glycan-independent chaperone role for calnexin and for the mechanism of retention of misfolded membrane proteins in the endoplasmic reticulum...