Bertrand Fontaine

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award

Overview

Best Publications

• Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

  Stephen Sawcer;Garrett Hellenthal;Matti Pirinen;Chris C. A. Spencer

  3044
  Citations

• Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

  Ashley H. Beecham;Nikolaos A. Patsopoulos;Nikolaos A. Patsopoulos;Dionysia K. Xifara;Mary F. Davis

  1397
  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

• Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

  Jamilé Hazan;Nùria Fonknechten;Delphine Mavel;Caroline Paternotte

  756
  Citations

• De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

  Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri

  457
  Citations

• Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

  Jens Jacob Hansen;Alexandra Dürr;Isabelle Cournu-Rebeix;Costa Georgopoulos

  451
  Citations

• The primary periodic paralyses: diagnosis, pathogenesis and treatment

  S. L. Venance;S. C. Cannon;D. Fialho;B. Fontaine

  422
  Citations

• Class II HLA interactions modulate genetic risk for multiple sclerosis

  L Moutsianas;L Jostins;A H Beecham;A T Dilthey

  421
  Citations

• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Giovanni Stevanin;Filippo M. Santorelli;Hamid Azzedine;Hamid Azzedine;Paula Coutinho

  401
  Citations

• A calcium channel mutation causing hypokalemic periodic paralysis

  Karln Jurkat-Rott;Frank Lehmann-Horn;Alexis Elbaz;Roland Heine

  383
  Citations

• Electromyography guides toward subgroups of mutations in muscle channelopathies

  Emmanuel Fournier;Marianne Arzel;Damien Sternberg;Savine Vicart

  378
  Citations

• Calcitonin gene-related peptide, a peptide present in spinal cord motoneurons, increases the number of acetylcholine receptors in primary cultures of chick embryo myotubes

  Bertrand Fontaine;André Klarsfeld;Tomas Hökfelt;Jean-Pierre Changeux

  374
  Citations

• Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

  Bertrand Fontaine;Tejvir S. Khurana;Eric P. Hoffman;Gail A. P. Bruns

  363
  Citations

• Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

  Devon P. Ryan;Magnus R. Dias da Silva;Tuck Wah Soong;Bertrand Fontaine

  353
  Citations

• Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

  Nicole S;Davoine Cs;Topaloglu H;Cattolico L

  338
  Citations

• Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

  Nùria Fonknechten;Delphine Mavel;Paula Byrne;Claire-Sophie Davoine

  333
  Citations

• Voltage-sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

  Karin Jurkat-Rott;Nenad Mitrovic;Chao Hang;Alexei Kouzmenkine

  333
  Citations

• Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

  Fontaine B;Vale-Santos J;Jurkat-Rott K;Reboul J

  324
  Citations

• Calcitonin gene-related peptide and muscle activity regulate acetylcholine receptor alpha-subunit mRNA levels by distinct intracellular pathways.

  B Fontaine;A Klarsfeld;J P Changeux

  291
  Citations

• Immunosuppressive therapy is more effective than interferon in neuromyelitis optica

  C Papeix;J-S Vidal;J de Seze;C Pierrot-Deseilligny

  275
  Citations