Rosalucia Mazzei

Summary

Affiliation: National Research Council
Country: Italy

Publications

  1. ncbi request reprint Gene symbol: NOTCH3
    R Mazzei
    Institute of Neurological Sciences National Research Council, Loc Burga 87050 Mangone CS, Italy
    Hum Genet 121:295. 2007
  2. ncbi request reprint First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
    R Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Neurol Neurosurg Psychiatry 79:108-10. 2008
  3. ncbi request reprint Gene symbol: NOTCH3
    R Mazzei
    Institute of Neurological Sciences National Research Council, Loc Burga 87050 Mangone CS, Italy
    Hum Genet 121:296. 2007
  4. ncbi request reprint Gene symbol: NOTCH3
    R Mazzei
    Institute of Neurological Sciences National Research Council, Loc Burga 87050 Mangone CS, Italy
    Hum Genet 121:296. 2007
  5. doi request reprint Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria
    Rosalucia Mazzei
    Institute of Neurological Sciences, National Research Council, Loc Burga, 87050, Piano Lago di Mangone CS, Italy
    Neurol Sci 32:95-9. 2011
  6. ncbi request reprint A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
    Rosalucia Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Child Neurol 18:269-71. 2003
  7. doi request reprint Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
    Angela Magariello
    Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy
    J Neurol Sci 288:96-100. 2010
  8. ncbi request reprint Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy
    Carmine Ungaro
    Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy
    Neurosci Lett 418:1-3. 2007
  9. ncbi request reprint A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies
    Maria Muglia
    Institute of Neurological Sciences, National Research Council, Mangone Cosenza, Italy
    J Neurol Sci 263:194-7. 2007
  10. doi request reprint Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
    Francesca L Conforti
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Neurology 79:2315-20. 2012

Collaborators

Detail Information

Publications35

  1. ncbi request reprint Gene symbol: NOTCH3
    R Mazzei
    Institute of Neurological Sciences National Research Council, Loc Burga 87050 Mangone CS, Italy
    Hum Genet 121:295. 2007
  2. ncbi request reprint First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
    R Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Neurol Neurosurg Psychiatry 79:108-10. 2008
  3. ncbi request reprint Gene symbol: NOTCH3
    R Mazzei
    Institute of Neurological Sciences National Research Council, Loc Burga 87050 Mangone CS, Italy
    Hum Genet 121:296. 2007
  4. ncbi request reprint Gene symbol: NOTCH3
    R Mazzei
    Institute of Neurological Sciences National Research Council, Loc Burga 87050 Mangone CS, Italy
    Hum Genet 121:296. 2007
  5. doi request reprint Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria
    Rosalucia Mazzei
    Institute of Neurological Sciences, National Research Council, Loc Burga, 87050, Piano Lago di Mangone CS, Italy
    Neurol Sci 32:95-9. 2011
    ....
  6. ncbi request reprint A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
    Rosalucia Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Child Neurol 18:269-71. 2003
    ..In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific...
  7. doi request reprint Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
    Angela Magariello
    Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy
    J Neurol Sci 288:96-100. 2010
    ..4% (3/14). Furthermore, we found a mutational rate of 22.2% (2/9) and 41.4% (12/29) in the complicated and pure forms, respectively. The results underlie the importance of genetic testing in all affected individuals...
  8. ncbi request reprint Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy
    Carmine Ungaro
    Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy
    Neurosci Lett 418:1-3. 2007
    ..No mutations were found. These data demonstrate absence of correlation between mutations in specific JAG1 gene exons and clinical features in patients with CADASIL-like phenotype...
  9. ncbi request reprint A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies
    Maria Muglia
    Institute of Neurological Sciences, National Research Council, Mangone Cosenza, Italy
    J Neurol Sci 263:194-7. 2007
    ..11delT). This novel mutation creates a shift on the reading frame starting at codon 4 and leads to the introduction of a premature stop at codon 6...
  10. doi request reprint Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
    Francesca L Conforti
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Neurology 79:2315-20. 2012
    ..This work was undertaken with the aim to investigate the frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy...
  11. doi request reprint A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
    Anna Lia Gabriele
    Institute of Neurological Science ISN, National Research Council CNR, Piano Lago di Mangone, Cosenza, Italy
    Childs Nerv Syst 27:635-8. 2011
    ..NF1 is caused by inactivating mutations of the 17q11.2-located NF1 gene. We present a clinical and molecular study of an Italian family with NF1...
  12. ncbi request reprint Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy
    Luca Passamonti
    Institute of Neurological Sciences, Ospedale Regionale Torrette, University Ancona, Ancona, Italy
    Neuromuscul Disord 14:705-10. 2004
    ..The analysis was negative thus excluding a complicated form of autosomal dominant hereditary spastic paraparesis. These data further confirm a genetic heterogeneity within inherited motor neuronopathy...
  13. ncbi request reprint Comparison of different techniques for detecting 17p12 duplication in CMT1A
    Alessandra Patitucci
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    Neuromuscul Disord 15:488-92. 2005
    ..However, in contrast to pulsed field gel electrophoresis, Real-Time PCR does not need fresh blood, minimizes diagnosis time and cost, and thus can be easily used for the molecular diagnosis of Charcot-Marie-Tooth type 1A...
  14. ncbi request reprint Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
    Angela Magariello
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Neuromuscul Disord 16:387-90. 2006
    ..1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population...
  15. doi request reprint Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
    Francesca Luisa Conforti
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Amyotroph Lateral Scler 10:58-60. 2009
    ..We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation...
  16. pmc Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
    Francesca Luisa Conforti
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    J Negat Results Biomed 5:7. 2006
    ..The frequency of the detected exon variation in the VAPB gene was not significantly different between patients and controls. In conclusion, our study suggests that VAPB mutations are not a common cause of adult-onset SALS...
  17. doi request reprint FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis
    William Sproviero
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Neurobiol Aging 33:837.e1-5. 2012
    ..41G>A; c.523+3ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes...
  18. ncbi request reprint A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
    Maria Muglia
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Neurol 249:1413-6. 2002
    ..3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3...
  19. doi request reprint A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2
    M Muglia
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Clin Genet 73:486-91. 2008
    ..No mutations have been detected in the analyzed genes. In conclusion, the new private genetic locus we reported further confirms the wide heterogeneity of dHMN...
  20. ncbi request reprint Gene symbol: MECP2. Disease: Rett syndrome
    F L Conforti
    Institute of Neurological Science, National Research Council, Mangone, Italy
    Hum Genet 119:676. 2006
  21. ncbi request reprint Gene symbol: MECP2. Disease: Rett syndrome
    F L Conforti
    Institute of Neurological Science, National Research Council, Mangone, Italy
    Hum Genet 119:675. 2006
  22. ncbi request reprint A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
    Rosalucia Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    J Neurol 249:1398-400. 2002
    ..This analysis revealed a novel mutation in homozygous form in the exon 7 that caused an aminoacid substitution at codon 222 (Leu --> Pro). Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous form...
  23. doi request reprint A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype
    T Sprovieri
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Am J Med Genet A 149:722-5. 2009
    ..In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that CDKL5 analysis is recommended in patients with a seizure disorder commencing during the first months of life...
  24. ncbi request reprint A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
    F L Conforti
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
    Neuromuscul Disord 18:68-70. 2008
    ..Our finding supports the evidence that the ANG gene is involved in ALS...
  25. ncbi request reprint A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
    R Mazzei
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    Neurology 63:561-4. 2004
    ..All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue...
  26. ncbi request reprint CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene
    C Ungaro
    Institute of Neurological Sciences, National Research Council, Mangone, Italy
    J Neurosci Res 87:1162-7. 2009
    ....
  27. ncbi request reprint Gene conversion events in adult-onset spinal muscular atrophy
    R Mazzei
    Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    Acta Neurol Scand 109:151-4. 2004
    ..To investigate the possible occurrence of a conversion event in three patients with adult-onset spinal muscular atrophy (SMA) type IV, which represents the mildest form within the spectrum of the SMA phenotype...
  28. ncbi request reprint Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
    M Muglia
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    Neurogenetics 5:49-54. 2004
    ..We also report the search for mutations in five genes located in the region and their exclusion as candidates for SPG5...
  29. ncbi request reprint A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)
    F L Conforti
    Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
    Neurology 63:1327-8. 2004
  30. ncbi request reprint Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy
    M Muglia
    Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone-Cosenza, Italy
    Neurology 56:100-3. 2001
    ..Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170...
  31. ncbi request reprint Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis
    Francesca Luisa Conforti
    Muscle Nerve 29:610-1. 2004
  32. ncbi request reprint Mutation analysis of the MECP2 gene in patients with Rett syndrome
    Francesca L Conforti
    Am J Med Genet A 117:184-7. 2003
  33. ncbi request reprint Rett syndrome phenotype following infantile acute encephalopathy
    Agata Fiumara
    Department of Pediatrics, University of Catania, Italy
    J Child Neurol 17:700-2. 2002
    ..DNA screening of the MECP2 gene was unrevealing in the child and her parents. This previously unreported association emphasizes the notion that Rett syndrome phenotypes can result from different (either genetic or environmental) causes...
  34. ncbi request reprint 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...
  35. ncbi request reprint Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
    Maria Muglia
    Ann Neurol 51:794-5. 2002