Nicola Ticozzi

Summary

Country: Italy

Publications

  1. pmc Mutational analysis of TARDBP in neurodegenerative diseases
    Nicola Ticozzi
    Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Neurobiol Aging 32:2096-9. 2011
  2. doi Genetics of familial Amyotrophic lateral sclerosis
    Nicola Ticozzi
    Department of Neurology and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy
    Arch Ital Biol 149:65-82. 2011
  3. pmc Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations
    Nicola Ticozzi
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy
    J Neurol 260:85-92. 2013
  4. ncbi Protein aggregation and defective RNA metabolism as mechanisms for motor neuron damage
    N Ticozzi
    Department of Neurology and Laboratory of Neuroscience Dino Ferrari Center Università Degli Studi di Milano IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy
    CNS Neurol Disord Drug Targets 9:285-96. 2010
  5. doi Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
    Daniela Calini
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Via Zucchi 18, 20095 Cusano Milanino, Milan, Italy
    Neurobiol Aging 34:2695.e11-2. 2013
  6. doi C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
    Antonia Ratti
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:2528.e7-14. 2012
  7. doi Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
    Cinzia Gellera
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol Neurosurg Psychiatry 84:183-7. 2013
  8. pmc Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
    Chi Hong Wu
    Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
    Nature 488:499-503. 2012
  9. doi The diagnosis of Amyotrophic lateral sclerosis in 2010
    Vincenzo Silani
    Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center, Universita degli Studi di Milano, Milan, Italy
    Arch Ital Biol 149:5-27. 2011
  10. pmc Paraoxonase gene mutations in amyotrophic lateral sclerosis
    Nicola Ticozzi
    Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Ann Neurol 68:102-7. 2010

Collaborators

Detail Information

Publications15

  1. pmc Mutational analysis of TARDBP in neurodegenerative diseases
    Nicola Ticozzi
    Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Neurobiol Aging 32:2096-9. 2011
    ..N352T and p.G384R. In contrast, we did not find TARDBP mutations in our cohort of AD and PD patients. These results suggest that mutations in TARDBP are not a significant cause of AD and PD...
  2. doi Genetics of familial Amyotrophic lateral sclerosis
    Nicola Ticozzi
    Department of Neurology and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy
    Arch Ital Biol 149:65-82. 2011
    ..This review presents a tentative classification of all FALS-associated genes identified so far...
  3. pmc Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations
    Nicola Ticozzi
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy
    J Neurol 260:85-92. 2013
    ..The role of mutant TARDBP and ANG genes on BBB integrity of ALS patients warrants further investigation...
  4. ncbi Protein aggregation and defective RNA metabolism as mechanisms for motor neuron damage
    N Ticozzi
    Department of Neurology and Laboratory of Neuroscience Dino Ferrari Center Università Degli Studi di Milano IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy
    CNS Neurol Disord Drug Targets 9:285-96. 2010
    ..Those findings collectively suggest that alterations in cellular RNA metabolism may trigger motor neuron degeneration...
  5. doi Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
    Daniela Calini
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Via Zucchi 18, 20095 Cusano Milanino, Milan, Italy
    Neurobiol Aging 34:2695.e11-2. 2013
    ..We failed to find variants in each cohort. Our results suggest that mutations in hnRNPA1, A2/B1, and A3 genes are a rare finding in ALS. ..
  6. doi C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
    Antonia Ratti
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:2528.e7-14. 2012
    ....
  7. doi Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
    Cinzia Gellera
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol Neurosurg Psychiatry 84:183-7. 2013
    ..The aim of our study was to analyse the UBQLN2 gene in a large cohort of patients with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis, with or without frontotemporal dementia (FTD), and in patients with FTD...
  8. pmc Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
    Chi Hong Wu
    Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
    Nature 488:499-503. 2012
    ..Furthermore, primary motor neurons expressing mutant PFN1 display smaller growth cones with a reduced F/G-actin ratio. These observations further document that cytoskeletal pathway alterations contribute to ALS pathogenesis...
  9. doi The diagnosis of Amyotrophic lateral sclerosis in 2010
    Vincenzo Silani
    Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center, Universita degli Studi di Milano, Milan, Italy
    Arch Ital Biol 149:5-27. 2011
    ..Prompt diagnosis, sensitive communication of the diagnosis, the involvement of the patient and family, a positive care plan are pre-requisites for the good clinical management of ALS patients...
  10. pmc Paraoxonase gene mutations in amyotrophic lateral sclerosis
    Nicola Ticozzi
    Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Ann Neurol 68:102-7. 2010
    ..We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function...
  11. ncbi C9orf72 repeat expansions are restricted to the ALS-FTD spectrum
    Nicola Ticozzi
    Department of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Milan, Italy Department of Pathophysiology and Transplantation, Dino Ferrari Center, Universita degli Studi di Milano, Milan, Italy Electronic address
    Neurobiol Aging 35:936.e13-7. 2014
    ....
  12. pmc Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
    Cinzia Tiloca
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 34:1517.e9-10. 2013
    ..G15G in another patient, but none in a panel of 1512 control subjects. Our results suggest that PFN1 mutations in sporadic ALS and in FTD are rare, at least in the Italian population...
  13. doi RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of Amyotrophic lateral sclerosis
    Claudia Colombrita
    Department of Neurology and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy
    Arch Ital Biol 149:83-99. 2011
    ..In this review similarities and differences between TDP-43 and FUS/TLS proteins and their activities in physiological and pathological conditions will be discussed...
  14. ncbi Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
    Cinzia Gellera
    Division of Biochemistry and Genetics, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milan, Italy
    Neurogenetics 9:33-40. 2008
    ..Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS...
  15. doi Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis
    Cinzia Tiloca
    Department of Neurology and Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:630.e1-2. 2012
    ..Bioinformatical analyses predicted no changes in splicing process or microRNA binding sites. Our results do not confirm a main contribution of VCP gene to familial ALS in the Italian population...