Bertrand Fontaine

Bertrand Fontaine publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Bertrand Fontaine sits on this spectrum.

Bertrand Fontaine D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Bertrand Fontaine sits on this spectrum.

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