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Author/Creator Rougeot, Christelle

2. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020)

Authors:
Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
251
Record Type:
Journal Article
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3. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015)

Authors:
Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan...
Journal:
Epilepsia
Issue:
Volume 56:issue 12(2015:Dec.)
Page Start:
1931
Record Type:
Journal Article
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4. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019)

Authors:
Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1713
Record Type:
Journal Article
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5. Whole exome sequencing in non progressive congenital ataxia consanguineous families: 3 genes lumping with early infantile epileptic encephalopathies. (June 2017)

Authors:
Valence, Stéphanie; Garel, Catherine; Chantot Bastaraud, Sandra; Afenjar, Alexandra; Barthez, Marie Anne; Bednarek, Nathalie; Goizet, Cyril; Lacombe, Didier; Milh, Mathieu; Moutard, Marie Laure; Robin, Stéphanie; Roubertie, Agathe; Rougeot, Christelle; Sarda, Pierre; Toutain, Annick; Villard, Lau...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e10
Record Type:
Journal Article
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