Giuseppe De Michele

Best Publications

• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

  Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese

  3342
  Citations

• Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene

  CB Lucking;A Durr;Bonifati;J Vaughan

  1912
  Citations

• Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

  Giorgio Casari;Maurizio De Fusco;Sonia Ciarmatori;Massimo Zeviani

  980
  Citations

• The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

  A Filla;G De Michele;F Cavalcanti;L Pianese

  612
  Citations

• Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

  Mireille Cossée;A Dürr;M. Schmitt;N Dahl

  484
  Citations

• How much phenotypic variation can be attributed to parkin genotype

  Ebba Lohmann;Magali Periquet;Vincenzo Bonifati;Nick W Wood

  413
  Citations

• Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

  Magali Periquet;Morwena Latouche;Ebba Lohmann;Nina Rawal

  369
  Citations

• Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism

  C. B. Lücking;N. Abbas;A. Dürr;V. Bonifati

  229
  Citations

• Environmental and genetic risk factors in Parkinson's disease: A case–control study in southern italy

  G. De Michele;A. Filla;G. Volpe;V. De Marco

  222
  Citations

• The Heterogeneity of Early Parkinson’s Disease: A Cluster Analysis on Newly Diagnosed Untreated Patients

  Roberto Erro;Carmine Vitale;Marianna Amboni;Marina Picillo

  216
  Citations

• Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

  Pablo Ibáñez;Suzanne Lesage;Ebba Lohmann;Stéphane Thobois

  208
  Citations

• International Guidelines for the treatment of Huntington’s Disease

  Anne Catherine Bachoud-Lévi;Joaquim Ferreira;Renaud Massart;Katia Youssov

  189
  Citations

• PARK6-linked parkinsonism occurs in several European families.

  Enza Maria Valente;Francesco Brancati;Alessandro Ferraris;Elizabeth A. Graham

  167
  Citations

• Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects

  Magali Periquet;Christoph B. Lücking;Jenny R. Vaughan;Vincenzo Bonifati

  162
  Citations

• Idiopathic cerebellar ataxia associated with celiac disease: lack of distinctive neurological features

  M. T. Pellecchia;R. Scala;A. Filla;G. De Michele

  161
  Citations

• LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

  Marialuisa Quadri;Wim Mandemakers;Martyna M. Grochowska;Roy Masius

  160
  Citations

• A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3

  Giuseppe De Michele;Maurizio De Fusco;Francesca Cavalcanti;Alessandro Filla

  160
  Citations

• Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

  G De Michele;A Filla;F Cavalcanti;L Di Maio

  147
  Citations

• PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

  Simone Olgiati;Anna De Rosa;Marialuisa Quadri;Chiara Criscuolo

  133
  Citations

• Non-motor symptoms in early Parkinson's disease: a 2-year follow-up study on previously untreated patients

  Roberto Erro;Marina Picillo;Carmine Vitale;Marianna Amboni

  132
  Citations