Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report von Baille, Guillaume, Geoffre, Nicolas, Wissocq, Anna, Planté-Bordeneuve, Pauline, Mutez, Eugénie, Huin, Vincent

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Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy von Huin, Vincent, Strubi-Vuillaume, Isabelle, Dujardin, Kathy, Brion, Marine, Delliaux, Marie, Dellacherie, Delphine, Cuvellier, Jean-Christophe, Cuisset, Jean-Marie, Riquet, Audrey, Moreau, Caroline, Defebvre, Luc, Sablonnière, Bernard, Devos, David

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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations von Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, Stevanin, Giovanni

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The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals von Homa, Mégane, Loyens, Anne, Eddarkaoui, Sabiha, Faivre, Emilie, Deramecourt, Vincent, Maurage, Claude-Alain, Buée, Luc, Huin, Vincent, Sablonnière, Bernard

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Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy von Chang, Ching-Pang, Chang, Ya-Gin, Chuang, Pei-Yun, Nguyen, Thi Ngoc Anh, Wu, Kuo-Chen, Chou, Fang-Yi, Cheng, Sin-Jhong, Chen, Hui-Mei, Jin, Lee-Way, Carvalho, Kevin, Huin, Vincent, Buée, Luc, Liao, Yung-Feng, Lin, Chun-Jung, Blum, David, Chern, Yijuang

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Use of dried blood spots and inductively coupled plasma mass spectrometry for multi-element determination in blood von Vacchina, Véronique, Huin, Vincent, Hulo, Sébastien, Cuny, Damien, Broly, Franck, Renom, Gilles, Perini, Jean-Marc

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Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy von Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Le Ber, Isabelle

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Reply: Early-onset phenotype of bi-allelic GRN mutations von Huin, Vincent, Barbier, Mathieu, Durr, Alexandra, Le Ber, Isabelle

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Conservative Iron Chelation for Neuroferritinopathy von Marchand, Felix, Moreau, Caroline, Kuchcinski, Gregory, Huin, Vincent, Defebvre, Luc, Devos, David

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Two RFC1 splicing variants in CANVAS von Weber, Sacha, Coarelli, Giulia, Heinzmann, Anna, Monin, Marie-Lorraine, Richard, Nicolas, Gerard, Marion, Durr, Alexandra, Huin, Vincent

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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia von 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

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Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion von Kermorvant, Hugo, Debs, Rabab, Maisonobe, Thierry, Huin, Vincent, Stojkovic, Tanya, Lenglet, Timothée

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Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination von Brock, Vincent, Wissocq, Anna, Geoffre, Nicolas, Marks, Caroline, Canel, Vincent, Huin, Vincent, Smirnov, Vasily M

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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms von Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes Alexander, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

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Motor neuron pathology in CANVAS due to RFC1 expansions von Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Le Ber, Isabelle, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, Durr, Alexandra

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Exacerbation of C1q dysregulation, synaptic loss and memory deficits in tau pathology linked to neuronal adenosine A2A receptor von Carvalho, Kevin, Faivre, Emilie, Pietrowski, Marie J., Marques, Xavier, Gomez-Murcia, Victoria, Deleau, Aude, Huin, Vincent, Hansen, Jan N, Kozlov, Stanislav, Danis, Clément, Temido Ferreira, Mariana, Coelho, Joana, Mériaux, Céline, Eddarkaoui, Sabiha, Gras, Stéphanie Le, Dumoulin, Mélanie, Cellai, Lucrezia, Landrieu, Isabelle, Chern, Yijuang, Hamdane, Malika, Buée, Luc, Boutillier, Anne-Laurence, Levi, Sabine, Halle, Annett, Lopes, Luisa, Blum, David

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P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy von Carvalho, Kevin, Martin, Elodie, Ces, Aurélia, Sarrazin, Nadège, Lagouge-Roussey, Pauline, Nous, Caroline, Boucherit, Leyna, Youssef, Ihsen, Prigent, Annick, Faivre, Emilie, Eddarkaoui, Sabiha, Gauvrit, Thibaut, Vieau, Didier, Boluda, Susana, Huin, Vincent, Fontaine, Bertrand, Buée, Luc, Delatour, Benoît, Dutar, Patrick, Sennlaub, Florian, Guillonneau, Xavier, Blum, David, Delarasse, Cécile

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RFC1: Motifs and phenotypes von Delforge, V., Tard, C., Davion, J.-B., Dujardin, K., Wissocq, A., Dhaenens, C.-M., Mutez, E., Huin, V.

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Neuronal ApoE4 stimulates C/EBPβ activation, promoting Alzheimer’s disease pathology in a mouse model von Wang, Zhi-Hao, Xia, Yiyuan, Wu, Zhourui, Kang, Seong Su, Zhang, Ji-chun, Liu, Pai, Liu, Xia, Song, Weihong, Huin, Vincent, Dhaenens, Claire-Marie, Yu, Shan Ping, Wang, Xiao-Chuan, Ye, Keqiang

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Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) von Dujardin, Kathy, Tard, Céline, Diglé, Emily, Herlin, Virginie, Mutez, Eugénie, Davion, Jean‐Baptiste, Wissocq, Anna, Delforge, Violette, Kuchcinski, Gregory, Huin, Vincent

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