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1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
Material Type:
Artigo
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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

Méreaux, Jean-Loup ; Banneau, Guillaume ; Papin, Mélanie ; Coarelli, Giulia ; Valter, Rémi ; Raymond, Laure ; Kol, Bophara ; Ariste, Olivier ; Parodi, Livia ; Tissier, Laurène ; Mairey, Mathilde ; Ait Said, Samia ; Gautier, Celia ; Guillaud-Bataille, Marine ; Forlani, Sylvie ; de la Grange, Pierre ; Brice, Alexis ; Vazza, Giovanni ; Durr, Alexandra ; Leguern, Eric ; Stevanin, Giovanni

Brain (London, England : 1878), 2022-04, Vol.145 (3), p.1029-1037 [Periódico revisado por pares]

England: Oxford University Press

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2
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
Material Type:
Artigo
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Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

NICOLAS, Gaël ; POTTIER, Cyril ; MARTINAUD, Olivier ; LEFAUCHEUR, Romain ; GUILLIN, Olivier ; WALLON, David ; CHAUMETTE, Boris ; RONDEPIERRE, Philippe ; DERACHE, Nathalie ; FROMAGER, Guillaume ; SCHAEFFER, Stéphane ; KRYSTKOWIAK, Pierre ; CHARBONNIER, Camille ; VERNY, Christophe ; JURICI, Snejana ; SAUVEE, Mathilde ; VERIN, Marc ; LEBOUVIER, Thibaud ; ROUAUD, Olivier ; THAUVIN-ROBINET, Christel ; ROUSSEAU, Stéphane ; ROVELET-LECRUX, Anne ; FREBOURG, Thierry ; GUYANT-MARECHAL, Lucie ; CAMPION, Dominique ; HANNEQUIN, Didier ; LE BER, Isabelle ; PARIENTE, Jérémie ; LABAUGE, Pierre ; AYRIGNAC, Xavier ; DEFEBVRE, Luc ; MALTETE, David

Brain (London, England : 1878), 2013-11, Vol.136 (Pt 11), p.3395-3407 [Periódico revisado por pares]

Oxford: Oxford University Press

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3
International Guidelines for the Treatment of Huntington's Disease
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Artigo
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International Guidelines for the Treatment of Huntington's Disease

Bachoud-Lévi, Anne-Catherine ; Ferreira, Joaquim ; Massart, Renaud ; Youssov, Katia ; Rosser, Anne ; Busse, Monica ; Craufurd, David ; Reilmann, Ralf ; De Michele, Giuseppe ; Rae, Daniela ; Squitieri, Ferdinando ; Seppi, Klaus ; Perrine, Charles ; Scherer-Gagou, Clarisse ; Audrey, Olivier ; Verny, Christophe ; Burgunder, Jean-Marc

Frontiers in neurology, 2019-07, Vol.10, p.710-710 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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4
A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency
Material Type:
Artigo
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A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

Leruez, Stéphanie ; Marill, Alexandre ; Bresson, Thomas ; de Saint Martin, Grégoire ; Buisset, Adrien ; Muller, Jeanne ; Tessier, Lydie ; Gadras, Cédric ; Verny, Christophe ; Gohier, Philippe ; Amati-Bonneau, Patrizia ; Lenaers, Guy ; Bonneau, Dominique ; Simard, Gilles ; Milea, Dan ; Procaccio, Vincent ; Reynier, Pascal ; Chao de la Barca, Juan Manuel

Investigative ophthalmology & visual science, 2018-09, Vol.59 (11), p.4355-4361 [Periódico revisado por pares]

United States: Association for Research in Vision and Ophthalmology

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5
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Material Type:
Artigo
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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Roux, Thomas ; Barbier, Mathieu ; Papin, Mélanie ; Davoine, Claire-Sophie ; Sayah, Sabrina ; Coarelli, Giulia ; Charles, Perrine ; Marelli, Cecilia ; Parodi, Livia ; Tranchant, Christine ; Goizet, Cyril ; Klebe, Stephan ; Lohmann, Ebba ; Van Maldergem, Lionel ; van Broeckhoven, Christine ; Coutelier, Marie ; Tesson, Christelle ; Stevanin, Giovanni ; Duyckaerts, Charles ; Brice, Alexis ; Durr, Alexandra

Genetics in medicine, 2020-11, Vol.22 (11), p.1851-1862 [Periódico revisado por pares]

United States: Elsevier Limited

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6
In vivo evidence for the selective subcortical degeneration in Huntington's disease
Material Type:
Artigo
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In vivo evidence for the selective subcortical degeneration in Huntington's disease

Douaud, Gwenaëlle ; Behrens, Timothy E. ; Poupon, Cyril ; Cointepas, Yann ; Jbabdi, Saâd ; Gaura, Véronique ; Golestani, Narly ; Krystkowiak, Pierre ; Verny, Christophe ; Damier, Philippe ; Bachoud-Lévi, Anne-Catherine ; Hantraye, Philippe ; Remy, Philippe

NeuroImage (Orlando, Fla.), 2009-07, Vol.46 (4), p.958-966 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase II Trial
Material Type:
Artigo
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Human Fetal Cell Therapy in Huntington's Disease: A Randomized, Multicenter, Phase II Trial

Bachoud‐Lévi, Anne‐Catherine ; Schramm, Catherine ; Remy, Philippe ; Aubin, Ghislaine ; Blond, Serge ; Bocket, Laurence ; Brugières, Pierre ; Calvas, Fabienne ; Calvier, Elisabeth ; Cassim, François ; Challine, Dominique ; Gagou, Clarisse Scherer ; Langavant, Laurent Cleret ; Collier, Francis ; Cottencin, Olivier ; David, Philippe ; Damier, Philippe ; Delliaux, Marie ; Delmaire, Christine ; Delval, Arnaud ; Démonet, Jean‐François ; Descamps, Philippe ; Gaura, Véronique ; Gohier, Bénédicte ; Goldman, Serge ; Haddad, Bassam ; Izopet, Jacques ; Jeny, Roland ; Kerr‐Conte, Julie ; Krystowiak, Pierre ; Lalanne, Christophe ; Lavisse, Sonia ; Lefaucheur, Jean‐Pascal ; Lemoine, Laurie ; Levivier, Marc ; Lotterie, Jean‐Albert ; Lunel‐Fabiani, Françoise ; Maison, Patrick ; Massager, Nicolas ; Massart, Renaud ; Menei, Philippe ; Montero‐Menei, Claudia ; Neveu, Isabelle ; Parant, Olivier ; Pautot, Vivien ; Payoux, Pierre ; Pereon, Yann ; Rialland, Amandine ; Rosser, Anne ; Rouard, Hélène ; Schmitz, David ; Simonetta‐Moreau, Marion ; Simonin, Clémence ; Slama, Hichem ; Sol, Jean‐Christophe ; Supiot, Frédéric ; Tanguy, Jean‐Yves ; Tenenbaum, Liliane ; Verny, Christophe ; Youssov, Katia ; Peschanski, Marc ; Audureau, Etienne ; Palfi, Stéphane ; Hantraye, Philippe

Movement disorders, 2020-08, Vol.35 (8), p.1323-1335 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Neurotoxicity of Insecticides
Material Type:
Artigo
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Neurotoxicity of Insecticides

Cassereau, Julien ; Ferré, Marc ; Chevrollier, Arnaud ; Codron, Philippe ; Verny, Christophe ; Homedan, Chadi ; Lenaers, Guy ; Procaccio, Vincent ; May-Panloup, Pascale ; Reynier, Pascal

Current medicinal chemistry, 2017-08, Vol.24 (27), p.2988-3001 [Periódico revisado por pares]

United Arab Emirates: Bentham Science Publishers Ltd

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9
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Material Type:
Artigo
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Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

Bris, Celine ; Goudenège, David ; Desquiret-Dumas, Valerie ; Gueguen, Naig ; Bannwarth, Sylvie ; Gaignard, Pauline ; Rucheton, Benoit ; Trimouille, Aurelien ; Allouche, Stephane ; Rouzier, Cecile ; Saadi, Samira ; Jardel, Claude ; Slama, Abdel ; Barth, Magalie ; Verny, Christophe ; Spinazzi, Marco ; Cassereau, Julien ; Colin, Estelle ; Armelle, Magot ; Pereon, Yann ; Martin-Negrier, Marie Laure ; Paquis-Flucklinger, Veronique ; Letournel, Franck ; Lenaers, Guy ; Bonneau, Dominique ; Reynier, Pascal ; Amati-Bonneau, Patrizia ; Procaccio, Vincent

Genetics in medicine, 2021-09, Vol.23 (9), p.1769-1778 [Periódico revisado por pares]

United States: Elsevier Limited

Sem texto completo

10
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume
Material Type:
Artigo
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Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume

Bocca, Cinzia ; Kouassi-Nzoughet, Judith ; Chao de la Barca, Juan Manuel ; Bonneau, Dominique ; Verny, Christophe ; Gohier, Philippe ; Orssaud, Christophe ; Reynier, Pascal

Acta neuropathologica communications, 2024-04, Vol.12 (1), p.53-53 [Periódico revisado por pares]

England: BioMed Central Ltd

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