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Anne-Marie Ouvrard-Hernandez
Institution:
Centre Hospitalier Universitaire de Grenoble
Observed institution:
Centre Hospitalier Universitaire de Grenoble
OpenAlex ID:
A5111556864
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
2007
·
Giovanni Stevanin
, Filippo M Santorelli
, et al.
·
Nature Genetics
·
339
FXTAS
2012
·
Emmanuelle Apartis
, Anne Blancher
, et al.
·
Neurology
·
175
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
2011
·
Cyril Goizet
, Christel Depienne
, et al.
·
Human Mutation
·
94
PDF
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
2010
·
Suzanne Lesage
, Etienne Patin
, et al.
·
Human Molecular Genetics
·
63
PDF
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort
2020
·
Suzanne Lesage
, Marion Houot
, et al.
·
Frontiers in Neurology
·
47
PDF
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
2012
·
Suzanne Lesage
, Christel Condroyer
, et al.
·
Neurobiology of Aging
·
41
PDF
Follow-up study of the GIGYF2 gene in French families with Parkinson's disease
2009
·
Suzanne Lesage
, Christel Condroyer
, et al.
·
Neurobiology of Aging
·
14
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Works count:
7
Citation count:
773
H-index:
7
I10-index:
7
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