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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?Neurobiol Aging, 2012, 33 (9), pp.2233.e1-2233.e5. ⟨10.1016/j.neurobiolaging.2012.05.006⟩
Journal articles
inserm-00807449v1
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsEuropean Journal of Human Genetics, 2012, 20 (6), pp.645-649. ⟨10.1038/ejhg.2011.261⟩
Journal articles
hal-02565698v1
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Journal articles
pasteur-02562487v1
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Identification of VPS35 mutations replicated in French families with Parkinson disease.Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩
Journal articles
inserm-00807463v1
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