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Author/Creator Durr, Alexandra

3. A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome. Issue 2 (27th December 2014)

Authors:
Johnson, Janel O.; Stevanin, Giovanni; van de Leemput, Joyce; Hernandez, Dena G.; Arepalli, Sampath; Forlani, Sylvie; Zonozi, Reza; Gibbs, J. Raphael; Brice, Alexis; Durr, Alexandra; Singleton, Andrew B.; Stacy (Chair), Mark; Lang, Anthony; Napier, Celeste; Samuel, Michael; Strafella, Antonio; We...
Journal:
Movement disorders
Issue:
Volume 30:Issue 2(2015)
Page Start:
262
Record Type:
Journal Article
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4. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013)

Authors:
Di Gregorio, Eleonora; Bianchi, Federico T; Schiavi, Alfonso; Chiotto, Alessandra M A; Rolando, Marco; Verdun di Cantogno, Ludovica; Grosso, Enrico; Cavalieri, Simona; Calcia, Alessandro; Lacerenza, Daniela; Zuffardi, Orsetta; Retta, Saverio Francesco; Stevanin, Giovanni; Marelli, Cecilia; Durr, ...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
543
Record Type:
Journal Article
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5. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. Issue 6 (11th August 2014)

Authors:
Tchikviladzé, Maya; Gilleron, Mylène; Maisonobe, Thierry; Galanaud, Damien; Laforêt, Pascal; Durr, Alexandra; Eymard, Bruno; Mochel, Fanny; Ogier, Hélène; Béhin, Anthony; Stojkovic, Tanya; Degos, Bertrand; Gourfinkel-An, Isabelle; Sedel, Frederic; Anheim, Mathieu; Elbaz, Alexis; Viala, Karine; Vi...
Other Names:
Lemière Isabelle author non-byline.; Filaut Sandrine author non-byline.; Dubourg Odile author non-byline.
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 86:Issue 6(2015)
Page Start:
646
Record Type:
Journal Article
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7. A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal‐Recessive Juvenile‐Onset Parkinson's Disease. Issue 2 (19th January 2016)

Authors:
Elsayed, Liena Elbaghir Omer; Drouet, Valérie; Usenko, Tatiana; Mohammed, Inaam N.; Hamed, Ahlam AbdAlrahman Ahmed; Elseed, Maha Abdelmoneim; Salih, Mustafa A.M.; Koko, Mahmoud Eltayeb; Mohamed, Ashraf Yahia Osman; Siddig, Rayan Abubaker; Elbashir, Mustafa Idris; Ibrahim, Muntaser Eltayeb; Durr, ...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 2(2016:Feb.)
Page Start:
335
Record Type:
Journal Article
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8. A randomized, double‐blind, placebo‐controlled trial evaluating cysteamine in Huntington's disease. Issue 6 (24th April 2017)

Authors:
Verny, Christophe; Bachoud‐Lévi, Anne‐Catherine; Durr, Alexandra; Goizet, Cyril; Azulay, Jean‐Philippe; Simonin, Clémence; Tranchant, Christine; Calvas, Fabienne; Krystkowiak, Pierre; Charles, Perrine; Youssov, Katia; Scherer, Clarisse; Prundean, Adriana; Olivier, Audrey; Reynier, Pascal; Saudou,...
Journal:
Movement disorders
Issue:
Volume 32:Issue 6(2017)
Page Start:
932
Record Type:
Journal Article
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9. A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia. (3rd July 2017)

Authors:
Garali, Imene; Adanyeguh, Isaac M; Ichou, Farid; Perlbarg, Vincent; Seyer, Alexandre; Colsch, Benoit; Moszer, Ivan; Guillemot, Vincent; Durr, Alexandra; Mochel, Fanny; Tenenhaus, Arthur
Journal:
Briefings in bioinformatics
Issue:
Volume 19:Number 6(2018:Nov.)
Page Start:
1356
Record Type:
Journal Article
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