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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

Suzanne Lesage , Christel Condroyer , Stephan Klebe , Ebba Lohmann , Franck Durif , et al.
Neurobiol Aging, 2012, 33 (9), pp.2233.e1-2233.e5. ⟨10.1016/j.neurobiolaging.2012.05.006⟩
Journal articles inserm-00807449v1

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe , Alexander Lossos , Hamid Azzedine , Emeline Mundwiller , Ruth Sheffer , et al.
European 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 3

Rahel Florian , Florian Kraft , Elsa Leitão , Sabine Kaya , Stephan Klebe , et al.
Nature 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.

Suzanne Lesage , Christel Condroyer , Stephan Klebe , Aurélie Honoré , François Tison , et al.
Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩
Journal articles inserm-00807463v1