Cinzia Gellera

Overview

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

• An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

  Massimo Zeviani;Serenella Servidei;Cinzia Gellera;Enrico Bertini

  777
  Citations

• Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis

  Chi Hong Wu;Claudia Fallini;Nicola Ticozzi;Pamela J. Keagle

  686
  Citations

• Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

  Wouter van Rheenen;Aleksey Shatunov;Annelot M. Dekker;Russell L. McLaughlin

  646
  Citations

• Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

  M. Zeviani;C. Gellera;C. Antozzi;M. Rimoldi

  449
  Citations

• The Friedreich's Ataxia Mutation Confers Cellular Sensitivity to Oxidant Stress Which Is Rescued by Chelators of Iron and Calcium and Inhibitors of Apoptosis

  Alice Wong;Joy Yang;Patrizia Cavadini;Cinzia Gellera

  426
  Citations

• Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

  Daniela Di Bella;Federico Lazzaro;Alfredo Brusco;Massimo Plumari

  365
  Citations

• Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

  Davina J Hensman Moss;Antonio F Pardiñas;Douglas Langbehn;Kitty Lo

  347
  Citations

• NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

  Kevin P Kenna;Perry T C van Doormaal;Annelot M Dekker;Nicola Ticozzi

  320
  Citations

• Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

  Ferdinando Squitieri;Cinzia Gellera;Milena Cannella;Caterina Mariotti

  270
  Citations

• The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

  Bradley N. Smith;Stephen Newhouse;Aleksey Shatunov;Caroline Vance

  270
  Citations

• High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

  Lucia Corrado;A. Ratti;C. Gellera;E. Buratti

  247
  Citations

• The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.

  Stefano Camnasio;Alessia Delli Carri;Angelo Lombardo;Iwona Grad

  236
  Citations

• Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

  Lucia Corrado;Roberto Del Bo;Barbara Castellotti;Antonia Ratti

  211
  Citations

• CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

  Kelly L. Williams;Kelly L. Williams;Simon Topp;Shu Yang;Bradley Smith

  207
  Citations

• Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

  Bradley N Smith;Simon D Topp;Claudia Fallini;Hideki Shibata

  197
  Citations

• Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

  Alfredo Brusco;Cinzia Gellera;Claudia Cagnoli;Alessandro Saluto

  193
  Citations

• Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

  Patrizia Cavadini;Cinzia Gellera;Pragna I. Patel;Grazia Isaya

  186
  Citations

• Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

  Wouter van Rheenen;Rick A. A. van der Spek;Mark K. Bakker;Joke J. F. A. van Vugt

  13
  Citations

• Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

  Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

  8
  Citations