J
Juliette Konop
Researcher at École pratique des hautes études
Publications - 2
Citations - 159
Juliette Konop is an academic researcher from École pratique des hautes études. The author has contributed to research in topics: Exome sequencing & Ornithine. The author has an hindex of 2, co-authored 2 publications receiving 122 citations.
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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier,Giulia Coarelli,Marie-Lorraine Monin,Juliette Konop,Claire-Sophie Davoine,Christelle Tesson,Rémi Valter,Mathieu Anheim,Anthony Behin,Giovanni Castelnovo,Perrine Charles,Albert David,Claire Ewenczyk,Mélanie Fradin,Cyril Goizet,Didier Hannequin,Pierre Labauge,Florence Riant,Pierre Sarda,Yves Sznajer,François Tison,Urielle Ullmann,Lionel Van Maldergem,Lionel Van Maldergem,Fanny Mochel,Alexis Brice,Giovanni Stevanin,Alexandra Durr +27 more
TL;DR: Important genetic variations are identified in up to 15% of cases after exclusion of polyglutamine expansion spinocerebellar ataxias, and CACNA1A and SPG7 are confirmed as major ataxia genes, to delineate firm genotype-phenotype correlations that are important for genetic counselling and of possible prognostic value.
Journal ArticleDOI
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier,Cyril Goizet,Alexandra Durr,Florence Habarou,S. Sara Morais,Alexandre Dionne-Laporte,Feifei Tao,Juliette Konop,Marion Stoll,Perrine Charles,Maxime Jacoupy,Raphaël Matusiak,Isabel Alonso,Chantal M. E. Tallaksen,Mathilde Mairey,Marina L. Kennerson,Marion Gaussen,Rebecca Schüle,Maxime Janin,Fanny Morice-Picard,Christelle M. Durand,Christel Depienne,Patrick Calvas,Paula Coutinho,Jean-Marie Saudubray,Guy A. Rouleau,Alexis Brice,Garth A. Nicholson,Frédéric Darios,José Leal Loureiro,Stephan Züchner,Chris Ottolenghi,Fanny Mochel,Giovanni Stevanin +33 more
TL;DR: Besides expanding the clinical spectrum of ALDH18A1-related pathology, mutations segregating in an autosomal dominant pattern are described, and amino acid chromatography is suggested in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases.