List of works - Thérèse Bertrand-Fontaine

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

scientific article published on 6 March 2006

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

scientific article published on 18 May 2016

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

scientific article published on 29 September 2013

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

scientific article

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

scientific article

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Class II HLA interactions modulate genetic risk for multiple sclerosis

scientific article published on 07 September 2015

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

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

scientific article

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

scientific article published on 12 January 2013

Genome-wide significant association with seven novel multiple sclerosis risk loci

scientific article

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

scientific article

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study

scientific article published in November 2003

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

scientific article published on June 2010

Low frequency and rare coding variation contributes to multiple sclerosis risk

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

scientific article published on June 2013

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

scientific article published on 18 February 2007

Power estimation for non-standardized multisite studies

scientific article

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

List of works by Thérèse Bertrand-Fontaine

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

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

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Class II HLA interactions modulate genetic risk for multiple sclerosis

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

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

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

Genome-wide significant association with seven novel multiple sclerosis risk loci

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

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

Low frequency and rare coding variation contributes to multiple sclerosis risk

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

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

Power estimation for non-standardized multisite studies

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility