Massimo Pandolfo

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

• Scale for the assessment and rating of ataxia: development of a new clinical scale.

  T Schmitz-Hübsch;S Tezenas du Montcel;L Baliko;J Berciano

  2130
  Citations

• HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

  Mark McCormack;Ana Alfirevic;Stephane Bourgeois;John J. Farrell

  1097
  Citations

• Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

  Michael Babcock;Michael Babcock;Deepika de Silva;Deepika de Silva;Robert Oaks;Robert Oaks;Sandra Davis-Kaplan;Sandra Davis-Kaplan

  1083
  Citations

• Common genetic variants influence human subcortical brain structures.

  Derrek P. Hibar;Jason L. Stein;Jason L. Stein;Miguel E. Renteria;Alejandro Arias-Vasquez

  933
  Citations

• Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

  Victoria Campuzano;Laura Montermini;Yves Lutz;Lidia Cova

  915
  Citations

• The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

  Paul M. Thompson;Jason L. Stein;Sarah E. Medland;Derrek P. Hibar

  824
  Citations

• Identification of common variants associated with human hippocampal and intracranial volumes

  Jason L Stein;Sarah E Medland;Sarah E Medland;Alejandro Arias Vasquez;Alejandro Arias Vasquez;Derrek P Hibar

  723
  Citations

• Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.

  Matthew Traylor;Martin Farrall;Elizabeth G Holliday;Cathie Sudlow

  607
  Citations

• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

  M C Moreira;S Klur;M Watanabe;A H Nemeth

  604
  Citations

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

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

  484
  Citations

• Friedreich ataxia: the clinical picture.

  Massimo Pandolfo

  433
  Citations

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

  401
  Citations

• Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

  Naoaki Sakamoto;Paul D. Chastain;Pawel Parniewski;Keiichi Ohshima

  376
  Citations

• Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.

  Keiichi Ohshima;Laura Montermini;Robert D. Wells;Massimo Pandolfo;Massimo Pandolfo

  354
  Citations

• Diagnosis and treatment of Friedreich ataxia: a European perspective

  Jörg B. Schulz;Sylvia Boesch;Katrin Bürk;Alexandra Dürr

  347
  Citations

• Spinocerebellar ataxia types 1, 2, 3, and 6 Disease severity and nonataxia symptoms

  T Schmitz-Hübsch;M Coudert;Peter Bauer;P Giunti

  309
  Citations

• Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

  Erin L. Heinzen;Rodney A. Radtke;Thomas J. Urban;Gianpiero L. Cavalleri

  306
  Citations

• Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

  Laura Montermini;Andrea Richeter;Kenneth Morgan;Cristina M. Justice

  304
  Citations

• Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies | NOVA. The University of Newcastle's Digital Repository

  Matthew Traylor;Martin Farrall;Unnur Thorsteinsdottir;Mike A. Nalls

  1
  Citations