Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maya Tchikviladzé"'
Autor:
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104931- (2024)
Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in indivi
Externí odkaz:
https://doaj.org/article/b26cd43fea5a421e9fcee91863d8d690
Autor:
Giulia Coarelli, Maya Tchikviladzé, Pauline Dodet, Isabelle Arnulf, Perrine Charles, Frederic Tankeré, Thomas Similowski, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Alexandra Durr
Publikováno v:
Neuropathology and Applied Neurobiology. 49
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e532a1c6d3c5b8c5a6ce6d7bbcd2131b
https://doi.org/10.1111/nan.12897
https://doi.org/10.1111/nan.12897
Autor:
Marion Masingue, Fanny Mochel, Claude Jardel, Damien Galanaud, Maya Tchikviladzé, Isaac Adanyeguh, Thierry Maisonobe
Publikováno v:
Mitochondrion
Mitochondrion, Elsevier, 2019, 45, pp.22-28. ⟨10.1016/j.mito.2018.02.001⟩
Mitochondrion, 2019, 45, pp.22-28. ⟨10.1016/j.mito.2018.02.001⟩
Mitochondrion, Elsevier, 2019, 45, pp.22-28. ⟨10.1016/j.mito.2018.02.001⟩
Mitochondrion, 2019, 45, pp.22-28. ⟨10.1016/j.mito.2018.02.001⟩
International audience; Mutations in the gene encoding polymerase gamma (POLG) are a common cause of mitochondrial diseases in adults. We retrospectively analyzed volumetric and diffusion tensor imaging data from 20 adult POLG-mutated patients compar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc87684ba53941a53ab9787b5f6bc14
https://doi.org/10.1016/j.mito.2018.02.001
https://doi.org/10.1016/j.mito.2018.02.001
Autor:
Cyril Dargazanli, Caroline Arquizan, Benjamin Gory, Arturo Consoli, Julien Labreuche, Hocine Redjem, Omer Eker, Jean-Pierre Decroix, Astrid Corlobé, Isabelle Mourand, Nicolas Gaillard, Xavier Ayrignac, Mahmoud Charif, Alain Duhamel, Paul-Emile Labeyrie, Carlos Riquelme, Gabriele Ciccio, Stanislas Smajda, Jean-Philippe Desilles, Grégory Gascou, Pierre-Henri Lefèvre, Daniel Mantilla-García, Federico Cagnazzo, Oguzhan Coskun, Mikael Mazighi, Roberto Riva, Frédéric Bourdain, Pierre Labauge, Georges Rodesch, Michael Obadia, Alain Bonafé, Francis Turjman, Vincent Costalat, Michel Piotin, Raphaël Blanc, Bertrand Lapergue, Adrien Wang, Serge Evrard, Maya Tchikviladzé, Jaime Gonzalez-Valcarcel, Federico Di Maria, Fernando Pico, Haja Rakotoharinandrasana, Philippe Tassan, Roxanna Poll, Ovide Corabianu, Thomas de Broucker, Didier Smadja, Sonia Alamowitch, Olivier Ille, Eric Manchon, Pierre-Yves Garcia
Publikováno v:
Stroke. 48:3274-3281
Background and Purpose— Proximal large vessel occlusion (LVO) is present in up to 30% of minor strokes. The effectiveness of mechanical thrombectomy (MT) in the subgroup of minor stroke with LVO in the anterior circulation is still open to debate.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fbe766c43911ae649934c13e2f55924
https://doi.org/10.1161/strokeaha.117.018113
https://doi.org/10.1161/strokeaha.117.018113
Autor:
Jean-Philippe Desilles, Arturo Consoli, Hocine Redjem, Oguzhan Coskun, Gabriele Ciccio, Stanislas Smajda, Julien Labreuche, Cristian Preda, Clara Ruiz Guerrero, Jean-Pierre Decroix, Georges Rodesch, Mikael Mazighi, Raphaël Blanc, Michel Piotin, Bertrand Lapergue, Adrien Wang, Serge Evrard, Maya Tchikviladzé, Frederic Bourdain, Jaime Gonzalez-Valcarcel, Federico Di Maria, Fernando Pico, Haja Rakotoharinandrasana, Philippe Tassan, Roxanna Poll, Ovide Corabianu, Thomas de Broucker, Didier Smadja, Sonia Alamowitch, Michael Obadia, Olivier Ille, Eric Manchon, Pierre-Yves Garcia
Publikováno v:
Stroke. 48:963-969
Background and Purpose— In acute ischemic stroke patients, diffusion-weighted imaging (DWI)–Alberta Stroke Program Early Computed Tomography Score (ASPECTS) is correlated with infarct volume and is an independent factor of functional outcome. Pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::496f9c8bc36c395404dba2529aca0221
https://doi.org/10.1161/strokeaha.116.015202
https://doi.org/10.1161/strokeaha.116.015202
Autor:
Daniel García-Lorenzo, Caroline Papeix, Audrey Chardain, Céline Louapre, Frédéric Dollé, Bernard Zalc, Emilie Poirion, Federico Turkheimer, Marco Battaglini, Maya Tchikviladzé, Mattia Veronese, B. Stankoff, Benedetta Bodini, Michel Bottlaender, Catherine Lubetzki, Leorah Freeman
Publikováno v:
Annals of Neurology. 79:726-738
Background Quantitative in vivo imaging of myelin loss and repair in patients with multiple sclerosis (MS) is essential to understand the pathogenesis of the disease and to evaluate promyelinating therapies. Selectively binding myelin in the central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50a19b7a4ea5292b113d8d3adeeb75c1
https://doi.org/10.1002/ana.24620
https://doi.org/10.1002/ana.24620
Autor:
Isabelle Arnulf, Dulce Neutel, Alexandra Durr, Smaranda Leu-Semenescu, Emmanuel Roze, Maya Tchikviladzé, Perrine Charles
Publikováno v:
Sleep Medicine. 16:754-759
Background Patients with Huntington disease (HD) and their spouses often complain of agitation during sleep, but the causes are mostly unknown. Objective To evaluate sleep and nocturnal movements in patients with various HD stages and CAG repeats len
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dcbf61c226583fbd21aa846fb167e39
https://doi.org/10.1016/j.sleep.2014.12.021
https://doi.org/10.1016/j.sleep.2014.12.021
Autor:
Ouahid Lagha Boukbiza, Daisy Rinaldi, Mathieu Anheim, Alhassane Diallo, Perrine Charles, Alexis Brice, Alina Tataru, Morgane Sonia Thion, Cecilia Marelli, Alexandra Durr, Fabienne Calvas, Sandrine Humbert, Claire Ewenczyk, Fanny Mochel, Giulia Coarelli, Christine Tranchant, Marie-Lorraine Monin, Sophie Tezenas du Montcel, Bertrand Carlander, Maya Tchikviladzé
Publikováno v:
Neurology
Neurology, 2017, 88 (12), pp.1114-1119. ⟨10.1212/WNL.0000000000003725⟩
Neurology, American Academy of Neurology, 2017, 88 (12), pp.1114-1119. ⟨10.1212/WNL.0000000000003725⟩
Neurology, 2017, 88 (12), pp.1114-1119. ⟨10.1212/WNL.0000000000003725⟩
Neurology, American Academy of Neurology, 2017, 88 (12), pp.1114-1119. ⟨10.1212/WNL.0000000000003725⟩
Objective:Polyglutamine (PolyQ) diseases are dominantly transmitted neurologic disorders, caused by coding and expanded CAG trinucleotide repeats. Cancer was reported retrospectively to be rare in patients with PolyQ diseases and we aimed to investig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8724d99cdd3cf3a4c9c847876f3882ff
https://pubmed.ncbi.nlm.nih.gov/28202696
https://pubmed.ncbi.nlm.nih.gov/28202696
Autor:
Sophie Tezenas du Montcel, Jean Louis Golmard, Alexis Brice, Perrine Charles, Maya Tchikviladzé, Carlo-Maria Vincitorio, Julie Figoni, Cecilia Marelli, Alexandra Durr, Mathieu Anheim
Publikováno v:
Movement Disorders. 27:135-139
Background: The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0–40) in Friedreich's ataxia. Methods: This was a follow-up study in adult patients with genetically confi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f90e2e0718e41b32264ad28f01fee9f
https://doi.org/10.1002/mds.23879
https://doi.org/10.1002/mds.23879
Autor:
Didier Hannequin, Ellis Chan, Leorah Freeman, Perrine Charles, Nadia Vandenberghe, David Devos, Cyril Goizet, Maya Tchikviladzé, Pascale Ribai, Cecilia Marelli, Alexandra Durr, Mathieu Anheim, Isabelle Le Ber, Alexis Brice, Alice Le Bayon, Pierre Labauge, Sophie Tezenas du Montcel, Karine Nguyen, Lucie Guyant-Maréchal, Carlo Maria Vincitorio
Publikováno v:
Movement Disorders. 26:534-538
Background: Responsive ataxia rating scales are essential for determining outcome measures in clinical trials. Methods: We evaluated the responsiveness over time of the composite cerebellar functional severity score, a quantitative score measuring ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f366165c4e353494753402e2094c0a4
https://doi.org/10.1002/mds.23531
https://doi.org/10.1002/mds.23531