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Author/Creator Durr, Alexandra

11. Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations. Issue 2 (6th October 2020)

Authors:
Perez‐Lloret, Santiago; van de Warrenburg, Bart; Rossi, Malco; Rodríguez‐Blázquez, Carmen; Zesiewicz, Theresa; Saute, Jonas A.M.; Durr, Alexandra; Nishizawa, Masatoyo; Martinez‐Martin, Pablo; Stebbins, Glenn T.; Schrag, Anette; Skorvanek, Matej
Journal:
Movement disorders
Issue:
Volume 36:Issue 2(2021)
Page Start:
283
Record Type:
Journal Article
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12. B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases. (13th September 2016)

Authors:
Bettencourt, Conceição; Moss, Davina Hensman; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gómez, Petra; García-Velázquez, Lizbeth Esmeralda; Alonso-Vilatela, María Elisa; Lima, Manuela; Raposo, Maf...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 87(2016)Supplement 1
Page Start:
A26
Record Type:
Journal Article
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13. Baseline Clinical and Blood Biomarker in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. (25th April 2023)

Authors:
Tezenas du Montcel, Sophie; Petit, Emilien; Olubajo, Titilayo; Faber, Jennifer; Lallemant-Dudek, Pauline; Bushara, Khalaf; Perlman, Susan; Subramony, Sub H.; Morgan, David; Jackman, Brianna; Paulson, Henry Lauris; Öz, Gülin; Klockgether, Thomas; Durr, Alexandra; Ashizawa, Tetsuo
Journal:
Neurology
Issue:
Volume 100:Number 17(2023)
Page Start:
e1836
Record Type:
Journal Article
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14. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. (25th April 2023)

Authors:
Tezenas du Montcel, Sophie; Petit, Emilien; Olubajo, Titilayo; Faber, Jennifer; Lallemant-Dudek, Pauline; Bushara, Khalaf; Perlman, Susan; Subramony, Sub H.; Morgan, David; Jackman, Brianna; Paulson, Henry Lauris; Öz, Gülin; Klockgether, Thomas; Durr, Alexandra; Ashizawa, Tetsuo
Journal:
Neurology
Issue:
Volume 100:Number 17(2023)
Page Start:
e1836
Record Type:
Journal Article
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15. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. Issue 10 (24th July 2012)

Authors:
Gras, Domitille; Jonard, Laurence; Roze, Emmanuel; Chantot-Bastaraud, Sandra; Koht, Jeanette; Motte, Jacques; Rodriguez, Diana; Louha, Malek; Caubel, Isabelle; Kemlin, Isabelle; Lion-François, Laurence; Goizet, Cyril; Guillot, Loic; Moutard, Marie-Laure; Epaud, Ralph; Héron, Bénédicte; Charles, P...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 83:Issue 10(2012)
Page Start:
956
Record Type:
Journal Article
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16. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. (February 2018)

Authors:
Mendoza-Ferreira, Natalia; Coutelier, Marie; Janzen, Eva; Hosseinibarkooie, Seyyedmohsen; Löhr, Heiko; Schneider, Svenja; Milbradt, Janine; Karakaya, Mert; Riessland, Markus; Pichlo, Christian; Torres-Benito, Laura; Singleton, Andrew; Zuchner, Stephan; Brice, Alexis; Durr, Alexandra; Hammerschmid...
Journal:
Neurology
Issue:
Volume 4:Number 1(2018)
Page Start:
Record Type:
Journal Article
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17. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Issue 2 (February 2015)

Authors:
Reetz, Kathrin; Dogan, Imis; Costa, Ana S; Dafotakis, Manuel; Fedosov, Kathrin; Giunti, Paola; Parkinson, Michael H; Sweeney, Mary G; Mariotti, Caterina; Panzeri, Marta; Nanetti, Lorenzo; Arpa, Javier; Sanz-Gallego, Irene; Durr, Alexandra; Charles, Perrine; Boesch, Sylvia; Nachbauer, Wolfgang; Kl...
Journal:
Lancet neurology
Issue:
Volume 14:Issue 2(2015:Feb.)
Page Start:
174
Record Type:
Journal Article
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18. Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression. Issue 5 (11th August 2017)

Authors:
Diallo, Alhassane; Jacobi, Heike; Schmitz‐Hübsch, Tanja; Cook, Arron; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sobanska, Anna; Sulek, Anna; Schöls, Ludger; Hengel, Holger; Melegh, Bela...
Journal:
Movement disorders clinical practice
Issue:
Volume 4:Issue 5(2017)
Page Start:
689
Record Type:
Journal Article
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19. C01 Glutamine codon usage and somatic mosaicism of the HTT cag repeat are modifiers of huntington disease severity. (September 2018)

Authors:
Ciosi, Marc; Maxwell, Alastair; Cumming, Sarah; Moss, Davina J Hensman; Alshammari, Asma Mubarak; Flower, Michael D; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A; Holmans, Peter; Jones, Lesley; Langbehn, Douglas R; Kwak, Seung; Tabrizi, Sarah J; Monckton, Darren G
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89(2018)Supplement 1
Page Start:
A26
Record Type:
Journal Article
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