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List of works by Thierry Frébourg

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

scientific article

ABCA7 rare variants and Alzheimer disease risk

scientific article published on April 2016

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

scientific article

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

scientific article published on 5 January 2008

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

scientific article

Cancer risks from germline p53 mutations ⬇️

scientific article published on November 1, 1992

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

scientific article published on 14 July 2017

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

article

Direct-to-consumer genetic testing services: what are the medical benefits? ⬇️

scientific article published on January 4, 2012

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers ⬇️

scientific article published on March 16, 2011

Filamin-A and Myosin VI colocalize with fibrillary Tau protein in Alzheimer's disease and FTDP-17 brains

scientific article published on 10 May 2010

Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions

scientific article

Is the saitohin gene involved in neurodegenerative diseases?

scientific article (publication date: December 2002)

Molecular cloning of flounder Xp18, a newly identified highly conserved protein mainly expressed in the ovary.

scientific article

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

scientific article published on April 2015

Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: the MOKAECM study, a nationwide experience

scientific article (publication date: 2013)

Reply to Kratz et al

scientific article published on 13 August 2020

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

scientific article (publication date: 15 May 2003)

Structure and expression of the Xenopus retinoblastoma gene

scientific article published on September 1, 1992

The revolution of the new generation sequencing ⬇️

scientific article published on October 12, 2012

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