C Casali

Summary

Affiliation: University of Rome La Sapienza
Country: Italy

Publications

  1. ncbi request reprint Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
    C Casali
    Department of Neurology and ORL, La Sapienza University, Rome, Italy
    Neurology 62:262-8. 2004
  2. ncbi request reprint Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid
    C Casali
    Istituto di Clinica delle Malattie Nervose e Mentali, Universita di Roma La Sapienza, Rome, Italy
    J Am Coll Cardiol 33:1584-9. 1999
  3. ncbi request reprint Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop
    F Cricchi
    IRCCS San Raffaele, Rome, Italy
    J Neurol Sci 254:69-71. 2007
  4. ncbi request reprint Multiple mtDNA deletions: clinical and molecular correlations
    F M Santorelli
    Neurological Institute, La Sapienza University, Rome, Italy
    J Inherit Metab Dis 23:155-61. 2000
  5. ncbi request reprint SPG3A: An additional family carrying a new atlastin mutation
    A Tessa
    Molecular Medicine and Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy
    Neurology 59:2002-5. 2002
  6. ncbi request reprint Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
    G S Grieco
    Molecular Neurogenetics, IRCCS C Mondino, Center of Experimental Neurobiology Mondino Tor Vergata S Lucia, Rome, Italy
    Neurology 62:103-6. 2004
  7. ncbi request reprint The wolframin His611Arg polymorphism influences medication overuse headache
    C Di Lorenzo
    Department of Neurology and ORL, University Center for Adaptive Disorders and Headache UCADH, University of Rome La Sapienza, Polo Pontino, Latina, Italy
    Neurosci Lett 424:179-84. 2007
  8. ncbi request reprint Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
    F M Santorelli
    Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy
    Neurology 55:702-5. 2000
  9. ncbi request reprint Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
    C Casali
    Neurological Institute, La Sapienza University, Rome, Italy
    Neurology 56:802-5. 2001
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
    C Casali
    Department of Neurology and ORL, La Sapienza University, Rome, Italy
    Neurology 62:262-8. 2004
    ..A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families...
  2. ncbi request reprint Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid
    C Casali
    Istituto di Clinica delle Malattie Nervose e Mentali, Universita di Roma La Sapienza, Rome, Italy
    J Am Coll Cardiol 33:1584-9. 1999
    ..The purpose of this study was to describe the clinical and molecular features of a large family with maternally inherited cardiomyopathy (MICM)...
  3. ncbi request reprint Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop
    F Cricchi
    IRCCS San Raffaele, Rome, Italy
    J Neurol Sci 254:69-71. 2007
    ..Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype...
  4. ncbi request reprint Multiple mtDNA deletions: clinical and molecular correlations
    F M Santorelli
    Neurological Institute, La Sapienza University, Rome, Italy
    J Inherit Metab Dis 23:155-61. 2000
    ..Our findings add to the features associated with multiple deletions of mtDNA...
  5. ncbi request reprint SPG3A: An additional family carrying a new atlastin mutation
    A Tessa
    Molecular Medicine and Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy
    Neurology 59:2002-5. 2002
    ..By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis...
  6. ncbi request reprint Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
    G S Grieco
    Molecular Neurogenetics, IRCCS C Mondino, Center of Experimental Neurobiology Mondino Tor Vergata S Lucia, Rome, Italy
    Neurology 62:103-6. 2004
    ..The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation...
  7. ncbi request reprint The wolframin His611Arg polymorphism influences medication overuse headache
    C Di Lorenzo
    Department of Neurology and ORL, University Center for Adaptive Disorders and Headache UCADH, University of Rome La Sapienza, Polo Pontino, Latina, Italy
    Neurosci Lett 424:179-84. 2007
    ..277; d.f.=1,80; p=0.00075, adjusted R2=0.122). These results implicate WFS1 in the clinical picture of MOH, may be through an influence on need for drugs as in other conditions of abuse behaviour...
  8. ncbi request reprint Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
    F M Santorelli
    Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy
    Neurology 55:702-5. 2000
    ..The data confirm the pathologic significance of SPG4 mutations in pure ADHSP and add to the list of known SPG4 allelic variants...
  9. ncbi request reprint Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
    C Casali
    Neurological Institute, La Sapienza University, Rome, Italy
    Neurology 56:802-5. 2001
    ....
  10. ncbi request reprint 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...
  11. ncbi request reprint Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study
    C Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Neurology 66:1207-10. 2006
    ..Recessive mutations in SETX have been described in AOA2 patients...
  12. ncbi request reprint Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance
    G Di Gennaro
    IRCCS Neuromed, Pozzilli, Italy
    Headache 40:568-71. 2000
    ..CONCLUSIONS: We failed to detect the MELAS mutation, but migraine may still be associated with point mutations of mtDNA other than A3243G or with as-yet-unidentified nuclear DNA factors related to mitochondrial function...
  13. ncbi request reprint Respiratory chain defects in hereditary spastic paraplegias
    F Piemonte
    Molecular Medicine and Neurology, , Piazza S. Onofrio 4, 00165 Rome, Italy
    Neuromuscul Disord 11:565-9. 2001
    ..Five patients showed an isolated defect of complex I activity. No mutations in the SPG7 gene were detected. Our results suggest that OXPHOS defects in HSP patients are more common than previously believed...