C Mariotti

Summary

Affiliation: Istituto Nazionale Neurologico Carlo Besta
Country: Italy

Publications

  1. ncbi Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    Manuela Marullo
    Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, 9 Via Balzaretti, Milan, 20133, Italy
    Genome Biol 11:R9. 2010
  2. ncbi Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient
    C Mariotti
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS Carlo Besta, Milan, Italy
    Neurology 57:1502-4. 2001
  3. ncbi Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families
    C Mariotti
    Division of Biochemistry and Genetics, C Besta National Neurological Institute, Via Celoria 11, I 20133 Milan, Italy
    Neurol Sci 25:130-7. 2004
  4. ncbi Decreased diffusivity in the caudate nucleus of presymptomatic huntington disease gene carriers: which explanation?
    M L Mandelli
    Neuroradiology Department, Fondazione Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
    AJNR Am J Neuroradiol 31:706-10. 2010
  5. ncbi Predictive genetic tests in neurodegenerative disorders: a methodological approach integrating psychological counseling for at-risk individuals and referring clinicians
    C Mariotti
    SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy
    Eur Neurol 64:33-41. 2010
  6. ncbi Novel and recurrent spastin mutations in a large series of SPG4 Italian families
    L Nanetti
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Neurosci Lett 528:42-5. 2012
  7. ncbi Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series
    E Prodi
    Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Eur J Neurol 20:138-46. 2013
  8. ncbi Cerebellar/spinocerebellar syndromes
    C Mariotti
    Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Milan, Italy
    Neurol Sci 22:S88-92. 2001
  9. ncbi Whole body cholesterol metabolism is impaired in Huntington's disease
    V Leoni
    Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, MI, Italy
    Neurosci Lett 494:245-9. 2011
  10. ncbi The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
    S Di Donato
    Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Via Celoria 11, I-20133 Milan, Italy
    Neurol Sci 22:219-28. 2001

Collaborators

Detail Information

Publications20

  1. ncbi Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    Manuela Marullo
    Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, 9 Via Balzaretti, Milan, 20133, Italy
    Genome Biol 11:R9. 2010
    ..This result is particularly important for clinical diagnosis and biomarker validation studies based on mRNA detection in human blood...
  2. ncbi Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient
    C Mariotti
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS Carlo Besta, Milan, Italy
    Neurology 57:1502-4. 2001
    ..Three family members, heterozygous for the intermediate allele, were clinically unaffected. The findings demonstrate a dose-dependent pathogenic effect of an intermediate CAG expansion in the SCA6 gene...
  3. ncbi Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families
    C Mariotti
    Division of Biochemistry and Genetics, C Besta National Neurological Institute, Via Celoria 11, I 20133 Milan, Italy
    Neurol Sci 25:130-7. 2004
    ..However, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy. Prompt genetic characterization of AVED patients may allow an effective early treatment and an adequate genetic counseling...
  4. ncbi Decreased diffusivity in the caudate nucleus of presymptomatic huntington disease gene carriers: which explanation?
    M L Mandelli
    Neuroradiology Department, Fondazione Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
    AJNR Am J Neuroradiol 31:706-10. 2010
    ..The neostriatum is known to be affected in HD. In this work, our aim was to determine whether microstructural and volumetric alterations occur in the neostriatum of presymptomatic HD gene carriers and in patients with early-stage HD...
  5. ncbi Predictive genetic tests in neurodegenerative disorders: a methodological approach integrating psychological counseling for at-risk individuals and referring clinicians
    C Mariotti
    SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy
    Eur Neurol 64:33-41. 2010
    ....
  6. ncbi Novel and recurrent spastin mutations in a large series of SPG4 Italian families
    L Nanetti
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Neurosci Lett 528:42-5. 2012
    ..Clinically, HSP are distinguished in pure and complicated forms. Mutations in the spastin gene (SPAST) are responsible for SPG4 and account approximately for 50% of the dominantly inherited paraplegias with a pure HSP phenotype...
  7. ncbi Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series
    E Prodi
    Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Eur J Neurol 20:138-46. 2013
    ..The disease, first described in Canadian families from Québec, is characterized by cerebellar ataxia, pyramidal tract involvement and peripheral neuropathy...
  8. ncbi Cerebellar/spinocerebellar syndromes
    C Mariotti
    Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Milan, Italy
    Neurol Sci 22:S88-92. 2001
    ..Distinguishing clinical features, diagnostic procedures, and frequency of specific genotypes in Italian patients are presented...
  9. ncbi Whole body cholesterol metabolism is impaired in Huntington's disease
    V Leoni
    Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, MI, Italy
    Neurosci Lett 494:245-9. 2011
    ....
  10. ncbi The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
    S Di Donato
    Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Via Celoria 11, I-20133 Milan, Italy
    Neurol Sci 22:219-28. 2001
    ..An updated review of the clinical, genetic, and pathogenic aspects of recessive ataxias is presented. Specific management problems with respect to diagnosis and genetic counseling are discussed...
  11. ncbi Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
    C Gellera
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS, Carlo Besta, Via Celoria 11, 20133, Milan, Italy
    Neuromuscul Disord 11:404-10. 2001
    ..In addition, in one SALS patient we identified an A95T amino acid substitution, that is apparently a non-pathogenic SOD1 variant. Our study increases the number of ALS-associated SOD1 gene mutations...
  12. ncbi Cognitive and psychiatric characterization of patients with Huntington's disease and their at-risk relatives
    P Soliveri
    Department of Neurology I, C. Besta National Neurological Institute, Via Celoria 11, I-20133 Milan, Italy
    Neurol Sci 23:S105-6. 2002
    ..In HD, disease course and symptomatology are heterogeneous and negative psychiatric symptoms are common...
  13. ncbi Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
    P Corona
    Division of Biochemistry and Genetics, National Neurological Institute C. Besta, Milan, Italy
    Ann Neurol 51:118-22. 2002
    ....
  14. ncbi Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2
    M L Mandelli
    Neuroradiology Department, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
    AJNR Am J Neuroradiol 28:1996-2000. 2007
    ..We aimed at determining whether measurements of the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) may enable their differentiation...
  15. ncbi Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial
    C Mariotti
    Division of Biochemistry and Genetics, Carlo Besta National Neurological Institute-IRCCS, Milan, Italy
    Neurology 60:1676-9. 2003
    ..The absolute cardiac changes were modest, but the findings suggest that larger trials should assess whether idebenone reduces ventricular hypertrophy in patients with Friedreich ataxia...
  16. ncbi SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Str 25, D 53105 Bonn, Germany
    Neurology 71:486-92. 2008
    ..To evaluate the usefulness of functional measures in patients with spinocerebellar ataxia (SCA)...
  17. ncbi Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Bonn, Germany
    Neurology 71:982-9. 2008
    ..To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6...
  18. ncbi Biological abnormalities of peripheral A(2A) receptors in a large representation of polyglutamine disorders and Huntington's disease stages
    K Varani
    Department of Clinical and Experimental Medicine, Pharmacology Unit, University of Ferrara, Italy
    Neurobiol Dis 27:36-43. 2007
    ....
  19. ncbi Scale for the assessment and rating of ataxia: development of a new clinical scale
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Str 25, D 53105 Bonn, Germany
    Neurology 66:1717-20. 2006
    ..To develop a reliable and valid clinical scale measuring the severity of ataxia...
  20. ncbi Polypoidal choroidal vasculopathy in Italy
    B Scassellati-Sforzolini
    Department of Ophthalmology, University of Ancona, Italy
    Retina 21:121-5. 2001
    ..006). CONCLUSIONS: Polypoidal choroidal vasculopathy is not an uncommon disease in Italy and should be suspected in patients presenting with extramacular lesions and no large drusen in the fellow eye...