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.
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.
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.
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.
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Stephen Sawcer;Garrett Hellenthal;Matti Pirinen;Chris C. A. Spencer.
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)
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
Giorgio Casari;Maurizio De Fusco;Sonia Ciarmatori;Massimo Zeviani.
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)
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)
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)
A calcium channel mutation causing hypokalemic periodic paralysis
Karln Jurkat-Rott;Frank Lehmann-Horn;Alexis Elbaz;Roland Heine.
Human Molecular Genetics (1994)
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)
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
Bertrand Fontaine;Tejvir S. Khurana;Eric P. Hoffman;Gail A. P. Bruns.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri.
Nature Genetics (2012)
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