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Propensity for somatic expansion increases over the course of life in Huntington disease
Propensity for somatic expansion increases over the course of life in Huntington disease
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Propensity for somatic expansion increases over the course of life in Huntington disease

Kacher, Radhia ; Lejeune, François-Xavier ; Noël, Sandrine ; Cazeneuve, Cécile ; Brice, Alexis ; Humbert, Sandrine ; Durr, Alexandra

eLife, 2021-05, Vol.10 [Periódico revisado por pares]

England: eLife Sciences Publications Ltd

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2
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
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A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

Słabicki, Mikołaj ; Theis, Mirko ; Krastev, Dragomir B ; Samsonov, Sergey ; Mundwiller, Emeline ; Junqueira, Magno ; Paszkowski-Rogacz, Maciej ; Teyra, Joan ; Heninger, Anne-Kristin ; Poser, Ina ; Prieur, Fabienne ; Truchetto, Jérémy ; Confavreux, Christian ; Marelli, Cécilia ; Durr, Alexandra ; Camdessanche, Jean Philippe ; Brice, Alexis ; Shevchenko, Andrej ; Pisabarro, M Teresa ; Stevanin, Giovanni ; Buchholz, Frank Hastie, Nicholas

PLoS Biology, 2010-06, Vol.8 (6), p.e1000408-e1000408 [Periódico revisado por pares]

United States: Public Library of Science

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3
Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons
Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons
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Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons

Yanicostas, Constantin ; Barbieri, Elisa ; Hibi, Masahiko ; Brice, Alexis ; Stevanin, Giovanni ; Soussi-Yanicostas, Nadia Tora, Laszlo

PloS one, 2012-11, Vol.7 (11), p.e50705 [Periódico revisado por pares]

United States: Public Library of Science

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4
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus
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Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Trabzuni, Daniah ; Ryten, Mina ; Emmett, Warren ; Ramasamy, Adaikalavan ; Lackner, Karl J ; Zeller, Tanja ; Walker, Robert ; Smith, Colin ; Lewis, Patrick A ; Mamais, Adamantios ; de Silva, Rohan ; Vandrovcova, Jana ; Hernandez, Dena ; Nalls, Michael A ; Sharma, Manu ; Garnier, Sophie ; Lesage, Suzanne ; Simon-Sanchez, Javier ; Gasser, Thomas ; Heutink, Peter ; Brice, Alexis ; Singleton, Andrew ; Cai, Huaibin ; Schadt, Eric ; Wood, Nicholas W ; Bandopadhyay, Rina ; Weale, Michael E ; Hardy, John ; Plagnol, Vincent Dawson, Ted M.

PloS one, 2013-08, Vol.8 (8), p.e70724-e70724 [Periódico revisado por pares]

United States: Public Library of Science

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5
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

Huguet, Guillaume ; Nava, Caroline ; Lemière, Nathalie ; Patin, Etienne ; Laval, Guillaume ; Ey, Elodie ; Brice, Alexis ; Leboyer, Marion ; Szepetowski, Pierre ; Gillberg, Christopher ; Depienne, Christel ; Delorme, Richard ; Bourgeron, Thomas Toft, Mathias

PloS one, 2014-03, Vol.9 (3), p.e88600-e88600 [Periódico revisado por pares]

United States: Public Library of Science

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6
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease
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Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

Simón-Sánchez, Javier ; Kilarski, Laura L ; Nalls, Michael A ; Martinez, Maria ; Schulte, Claudia ; Holmans, Peter ; Gasser, Thomas ; Hardy, John ; Singleton, Andrew B ; Wood, Nicholas W ; Brice, Alexis ; Heutink, Peter ; Williams, Nigel ; Morris, Huw R Lewin, Alfred

PloS one, 2012-03, Vol.7 (3), p.e28787-e28787 [Periódico revisado por pares]

United States: Public Library of Science

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7
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis
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Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

Boutry, Maxime ; Pierga, Alexandre ; Matusiak, Raphaël ; Branchu, Julien ; Houllegatte, Marc ; Ibrahim, Yoan ; Balse, Elise ; El Hachimi, Khalid-Hamid ; Brice, Alexis ; Stevanin, Giovanni ; Darios, Frédéric

Communications biology, 2019, Vol.2 (1), p.380-380, Article 380 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Parkinson's disease: from causes to mechanisms
Parkinson's disease: from causes to mechanisms
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Parkinson's disease: from causes to mechanisms

Corti, Olga ; Hampe, Cornelia ; Darios, Frédéric ; Ibanez, Pablo ; Ruberg, Merle ; Brice, Alexis

Comptes rendus. Biologies, 2005-02, Vol.328 (2), p.131-142 [Periódico revisado por pares]

France: Elsevier SAS

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