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1
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Perrone, Federica ; Nguyen, Hung Phuoc ; Van Mossevelde, Sara ; Moisse, Matthieu ; Sieben, Anne ; Santens, Patrick ; De Bleecker, Jan ; Vandenbulcke, Mathieu ; Engelborghs, Sebastiaan ; Baets, Jonathan ; Cras, Patrick ; Vandenberghe, Rik ; De Jonghe, Peter ; De Deyn, Peter P ; Martin, Jean-Jacques ; Van Damme, Philip ; Van Broeckhoven, Christine ; van der Zee, Julie

Neurobiology of aging, 2017-03, Vol.51, p.177.e9-177.e16 [Periódico revisado por pares]

United States: Elsevier Inc

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2
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Torella, Annalaura ; Ricca, Ivana ; Piluso, Giulio ; Galatolo, Daniele ; De Michele, Giuseppe ; Zanobio, Mariateresa ; Trovato, Rosanna ; De Michele, Giovanna ; Zeuli, Roberta ; Pane, Chiara ; Cocozza, Sirio ; Saccà, Francesco ; Santorelli, Filippo M. ; Nigro, Vincenzo ; Filla, Alessandro

Journal of neurology, 2023-10, Vol.270 (10), p.5057-5063 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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3
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
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Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

Li, Qun ; Zhao, Lin ; Zeng, Yang ; Kuang, Yanping ; Guan, Yichun ; Chen, Biaobang ; Xu, Shiru ; Tang, Bin ; Wu, Ling ; Mao, Xiaoyan ; Sun, Xiaoxi ; Shi, Juanzi ; Xu, Peng ; Diao, Feiyang ; Xue, Songguo ; Bao, Shihua ; Meng, Qingxia ; Yuan, Ping ; Wang, Wenjun ; Ma, Ning ; Song, Di ; Xu, Bei ; Dong, Jie ; Mu, Jian ; Zhang, Zhihua ; Fan, Huizhen ; Gu, Hao ; Li, Qiaoli ; He, Lin ; Jin, Li ; Wang, Lei ; Sang, Qing

Genome Biology, 2023-04, Vol.24 (1), p.68-68, Article 68 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS
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The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS

Castellanos-Montiel, María José ; Chaineau, Mathilde ; Durcan, Thomas M.

Frontiers in cellular neuroscience, 2020-11, Vol.14, p.594975-594975 [Periódico revisado por pares]

Lausanne: Frontiers Research Foundation

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5
ATM-mediated PTEN phosphorylation promotes PTEN nuclear translocation and autophagy in response to DNA-damaging agents in cancer cells
ATM-mediated PTEN phosphorylation promotes PTEN nuclear translocation and autophagy in response to DNA-damaging agents in cancer cells
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ATM-mediated PTEN phosphorylation promotes PTEN nuclear translocation and autophagy in response to DNA-damaging agents in cancer cells

Chen, Jing-Hong ; Zhang, Peng ; Chen, Wen-Dan ; Li, Dan-Dan ; Wu, Xiao-Qi ; Deng, Rong ; Jiao, Lin ; Li, Xuan ; Ji, Jiao ; Feng, Gong-Kan ; Zeng, Yi-Xin ; Jiang, Jian-Wei ; Zhu, Xiao-Feng

Autophagy, 2015-02, Vol.11 (2), p.239-252 [Periódico revisado por pares]

United States: Taylor & Francis

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6
TUBA4A downregulation as observed in ALS post-mortem motor cortex causes ALS-related abnormalities in zebrafish
TUBA4A downregulation as observed in ALS post-mortem motor cortex causes ALS-related abnormalities in zebrafish
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TUBA4A downregulation as observed in ALS post-mortem motor cortex causes ALS-related abnormalities in zebrafish

Van Schoor, Evelien ; Strubbe, Dufie ; Braems, Elke ; Weishaupt, Jochen ; Ludolph, Albert C ; Van Damme, Philip ; Thal, Dietmar Rudolf ; Bercier, Valérie ; Van Den Bosch, Ludo

Frontiers in cellular neuroscience, 2024, Vol.18, p.1340240-1340240 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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7
Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations
Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations
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Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations

Mandrioli, Jessica ; Michalke, Bernhard ; Solovyev, Nikolay ; Grill, Peter ; Violi, Federica ; Lunetta, Christian ; Conte, Amelia ; Sansone, Valeria Ada ; Sabatelli, Mario ; Vinceti, Marco

Neuro-degenerative diseases, 2017-01, Vol.17 (4-5), p.171-180 [Periódico revisado por pares]

Switzerland

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8
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Perrone, Federica ; Nguyen, Hung Phuoc ; Van Mossevelde, Sara ; Moisse, Matthieu ; Sieben, Anne ; Santens, Patrick ; De Bleecker, Jan ; Vandenbulcke, Mathieu ; Engelborghs, Sebastiaan ; Baets, Jonathan ; Cras, Patrick ; Vandenberghe, Rik ; De Jonghe, Peter ; De Deyn, Peter P ; Martin, Jean-Jacques ; Van Damme, Philip ; Van Broeckhoven, Christine ; van der Zee, Julie

2017

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9
Assessing the role of TUBA4A gene in frontotemporal degeneration
Assessing the role of TUBA4A gene in frontotemporal degeneration
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Assessing the role of TUBA4A gene in frontotemporal degeneration

Dols-Icardo, Oriol ; Iborra, Oriol ; Valdivia, Jessica ; Pastor, Pau ; Ruiz, Agustín ; López de Munain, Adolfo ; Sánchez-Valle, Raquel ; Álvarez, Victoria ; Sánchez-Juan, Pascual ; Lleó, Alberto ; Fortea, Juan ; Blesa, Rafael ; Cardona, Fernando ; Baquero, Miquel ; Alonso, María Dolores ; Ortega-Cubero, Sara ; Pastor, María A ; Razquin, Cristina ; Boada, Mercè ; Hernández, Isabel ; Gorostidi, Ana ; Moreno, Fermín ; Zulaika, Miren ; Lladó, Albert ; Coto, Eliecer ; Combarros, Onofre ; Pérez-Tur, Jordi ; Clarimón, Jordi

Neurobiology of aging, 2016-02, Vol.38, p.215.e13-215.e14 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology
Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology
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Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Van Schoor, Evelien ; Vandenbulcke, Mathieu ; Bercier, Valérie ; Vandenberghe, Rik ; van der Zee, Julie ; Van Broeckhoven, Christine ; Otto, Markus ; Hanseeuw, Bernard ; Van Damme, Philip ; Van Den Bosch, Ludo ; Thal, Dietmar Rudolf

Biomolecules (Basel, Switzerland), 2022-03, Vol.12 (3), p.440 [Periódico revisado por pares]

Switzerland: MDPI AG

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