S Lucchiari

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL
    S Lucchiari
    Dino Ferrari Center, Department of Neurological Sciences, University of Milan, Fondazione I R C C S Ospedale Maggiore Policlinico, Mangialli, Regina Elena, Milan, Italy
    Hum Mutat 27:600-1. 2006
  2. ncbi Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion
    S Lucchiari
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Fondazione I R C C S Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    J Neurol Sci 275:159-63. 2008
  3. ncbi Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL
    S Lucchiari
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy
    Hum Mutat 20:480. 2002
  4. ncbi Mutational analysis of the AGL gene: five novel mutations in GSD III patients
    S Lucchiari
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy
    Hum Mutat 22:337. 2003
  5. ncbi Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area
    S Lucchiari
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita' degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Milano, Italy
    Am J Med Genet 109:183-90. 2002
  6. ncbi Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
    S Lucchiari
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I R C C S Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    Acta Myol 26:72-4. 2007
  7. ncbi Optimized detection of DNA point mutations by double gradient denaturing gradient gel electrophoresis
    L Cremonesi
    I R C C S, H San Raffaele, Unità di Genetica e Diagnostica Molecolare, Milan, Italy
    Clin Chem Lab Med 36:959-61. 1998
  8. ncbi Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis
    G P Comi
    Istituto di Clinica Neurologica, Universita degli Studi di Milano, IRCCS, Ospedale Maggiore Policlinico, Italy
    Ann Neurol 50:202-7. 2001

Collaborators

Detail Information

Publications8

  1. ncbi Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL
    S Lucchiari
    Dino Ferrari Center, Department of Neurological Sciences, University of Milan, Fondazione I R C C S Ospedale Maggiore Policlinico, Mangialli, Regina Elena, Milan, Italy
    Hum Mutat 27:600-1. 2006
    ..664+3A>G was also detected in two patients, both homozygous. The present work is yet another confirmation that the individual genetic background plays a pivotal role in influencing the phenotypes, as occurs in other metabolic diseases...
  2. ncbi Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion
    S Lucchiari
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Fondazione I R C C S Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    J Neurol Sci 275:159-63. 2008
    ..This is one of the smallest expansion reported and the shortest with the evidence of nuclear foci. These data contribute to the clinical and molecular correlation of ZNF9 gene short expansion...
  3. ncbi Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL
    S Lucchiari
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy
    Hum Mutat 20:480. 2002
    ..Consequently, the strategy of mutation finding based on screening of recurrent common mutations is limited, as far as regards Italian GSD III patients, to check for the presence of IVS21(+1) G>A...
  4. ncbi Mutational analysis of the AGL gene: five novel mutations in GSD III patients
    S Lucchiari
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy
    Hum Mutat 22:337. 2003
    ..R428K, c.3911 insA, p.G1087R and c.3512_3549dup+c.3512_3519del. The functional relevance of these mutations is discussed on the basis of the recently acquired knowledge about the boundaries and structures of the two catalytic domains...
  5. ncbi Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area
    S Lucchiari
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita' degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Milano, Italy
    Am J Med Genet 109:183-90. 2002
    ..Our data confirm the extreme genetic heterogeneity of this disease, thus precluding a strategy of mutation finding based on screening of recurrent common mutations...
  6. ncbi Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
    S Lucchiari
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I R C C S Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    Acta Myol 26:72-4. 2007
    ..This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients...
  7. ncbi Optimized detection of DNA point mutations by double gradient denaturing gradient gel electrophoresis
    L Cremonesi
    I R C C S, H San Raffaele, Unità di Genetica e Diagnostica Molecolare, Milan, Italy
    Clin Chem Lab Med 36:959-61. 1998
    ....
  8. ncbi Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis
    G P Comi
    Istituto di Clinica Neurologica, Universita degli Studi di Milano, IRCCS, Ospedale Maggiore Policlinico, Italy
    Ann Neurol 50:202-7. 2001
    ..Muscle beta-enolase deficiency should be considered in the differential diagnosis of metabolic myopathies due to inherited defects of distal glycolysis...