S Lucchiari

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi request reprint 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. doi request reprint 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 request reprint 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 request reprint 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 request reprint 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. pmc 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. doi request reprint Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene
    C Lamperti
    Fondazione Ospedale Maggiore Policlinico, Maniagalli and Regina Elena, IRCCS, Milan, Italy
    J Inherit Metab Dis 32:S161-8. 2009
  8. ncbi request reprint Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient
    S Lucchiari
    Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    J Physiol Pharmacol 64:669-78. 2013
  9. doi request reprint Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease
    A Sagnelli
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Neuromuscul Disord 24:272-6. 2014
  10. ncbi request reprint 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

Publications11

  1. ncbi request reprint 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. doi request reprint 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 request reprint 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 request reprint 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 request reprint 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. pmc 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. doi request reprint Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene
    C Lamperti
    Fondazione Ospedale Maggiore Policlinico, Maniagalli and Regina Elena, IRCCS, Milan, Italy
    J Inherit Metab Dis 32:S161-8. 2009
    ..E152X, in exon 4, correlating with the lack of enzyme activity and with the severe neonatal involvement. Our findings contribute to increasing the spectrum of mutation associated with congenital GSD IV...
  8. ncbi request reprint Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient
    S Lucchiari
    Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    J Physiol Pharmacol 64:669-78. 2013
    ....
  9. doi request reprint Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease
    A Sagnelli
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Neuromuscul Disord 24:272-6. 2014
    ..Ala143Thr mutation in causing Fabry's disease has been questioned. This case underlines the importance of performing further investigations when facing with atypical features even in the presence of a genetic diagnosis of a rare disease. ..
  10. ncbi request reprint 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...
  11. ncbi request reprint 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
    ....