D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 67 Citations 18,934 193 World Ranking 1747 National Ranking 78

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

His primary scientific interests are in Genetics, Internal medicine, Locus, Endocrinology and Gene. As part of his studies on Genetics, Bertrand Fontaine frequently links adjacent subjects like Multiple sclerosis. His study focuses on the intersection of Multiple sclerosis and fields such as Genotype with connections in the field of Major histocompatibility complex and Odds ratio.

He interconnects Paraplegia and Genetic linkage in the investigation of issues within Locus. His studies deal with areas such as Myotonia, CLCN1, Nav1.4 and Muscle disorder as well as Endocrinology. His biological study spans a wide range of topics, including Allele, Linkage disequilibrium and Genetic association.

His most cited work include:

  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis (1970 citations)
  • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis (906 citations)
  • Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease (663 citations)

What are the main themes of his work throughout his whole career to date?

Bertrand Fontaine focuses on Genetics, Multiple sclerosis, Internal medicine, Endocrinology and Locus. Gene, Genome-wide association study, Genetic association, Allele and Hereditary spastic paraplegia are the subjects of his Genetics studies. Bertrand Fontaine interconnects Human leukocyte antigen, Disease, Genetic predisposition and Single-nucleotide polymorphism in the investigation of issues within Multiple sclerosis.

His research integrates issues of Myotonia, Paramyotonia congenita and Periodic paralysis in his study of Endocrinology. His Myotonia study combines topics in areas such as Mutation and Missense mutation. His Locus research integrates issues from Paraplegia, Gene mapping, Genetic linkage and Haplotype.

He most often published in these fields:

  • Genetics (44.35%)
  • Multiple sclerosis (27.20%)
  • Internal medicine (23.43%)

What were the highlights of his more recent work (between 2013-2021)?

  • Multiple sclerosis (27.20%)
  • Genetics (44.35%)
  • Immunology (15.48%)

In recent papers he was focusing on the following fields of study:

Bertrand Fontaine mainly investigates Multiple sclerosis, Genetics, Immunology, Periodic paralysis and Endocrinology. Within one scientific family, he focuses on topics pertaining to Disease under Multiple sclerosis, and may sometimes address concerns connected to Mendelian inheritance. His studies link Case-control study with Genetics.

His Periodic paralysis research includes elements of Anesthesia, Proband, Myotonia, Paramyotonia congenita and Skeletal muscle. Bertrand Fontaine has included themes like Internal medicine, Muscle weakness, Neuromuscular junction and Congenital myasthenic syndrome in his Endocrinology study. His Genetic association study combines topics from a wide range of disciplines, such as Epistasis and Genome-wide association study.

Between 2013 and 2021, his most popular works were:

  • Class II HLA interactions modulate genetic risk for multiple sclerosis (182 citations)
  • Distinct inflammatory phenotypes of microglia and monocyte-derived macrophages in Alzheimer's disease models: effects of aging and amyloid pathology (66 citations)
  • The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility (60 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Internal medicine

His primary areas of investigation include Immunology, Microglia, Genetics, Genome-wide association study and Epistasis. Multiple sclerosis, CCL19, Pathogenesis and Myeloid are the primary areas of interest in his Immunology study. His study in Multiple sclerosis is interdisciplinary in nature, drawing from both Myelin, Remyelination, Neuroinflammation, Lymphocyte and Transplantation.

The Microglia study combines topics in areas such as Chemokine, Receptor and CD14. His study in Genetics concentrates on Genetic association, Linkage disequilibrium, Genomics, Heritability and Histocompatibility. The concepts of his Genome-wide association study study are interwoven with issues in Human leukocyte antigen, Allele and HLA-DRB1.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Nature (2011)

2667 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.
Nature Genetics (2013)

1112 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.
Cell (1998)

923 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.
Nature Genetics (1999)

715 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.
American Journal of Human Genetics (2002)

429 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.
Neuroscience Letters (1986)

373 Citations

A calcium channel mutation causing hypokalemic periodic paralysis

Karln Jurkat-Rott;Frank Lehmann-Horn;Alexis Elbaz;Roland Heine.
Human Molecular Genetics (1994)

373 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.
Nature Genetics (2007)

362 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.
Science (1990)

359 Citations

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri.
Nature Genetics (2012)

357 Citations

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