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The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1102 - 1107
Journal Article
by Cirulli, Elizabeth T and Lasseigne, Brittany N and Petrovski, Slavé and Sapp, Peter C and Dion, Patrick A and Leblond, Claire S and Couthouis, Julien and Lu, Yi-Fan and Wang, Quanli and Krueger, Brian J and Ren, Zhong and Keebler, Jonathan and Han, Yujun and Levy, Shawn E and Boone, Braden E and Wimbish, Jack R and Waite, Lindsay L and Jones, Angela L and Carulli, John P and Day-Williams, Aaron G and Staropoli, John F and Xin, Winnie W and Chesi, Alessana and Raphael, Alya R and McKenna-Yasek, Diane and Cady, Janet and de Jong, J. M. B. Vianney and Kenna, Kevin P and Smith, Bradley N and Topp, Simon and Miller, Jack and Gkazi, Athina and Al-Chalabi, Ammar and van den Berg, Leonard H and Veldink, Jan and Silani, Vincenzo and Ticozzi, Nicola and Shaw, Christopher E and Baloh, Robert H and Appel, Stanley and Simpson, Ericka and Lagier-Tourenne, Clotilde and Pulst, Stefan M and Gibson, Summer and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Grossman, Murray and Shneider, Neil A and Chung, Wendy K and Ravits, John M and Glass, Jonathan D and Sims, Katherine B and van Deerlin, Vivianna M and Maniatis, Tom and Hayes, Sebastian D and Ordureau, Alban and Swarup, Sharan and Landers, John and Baas, Frank and Allen, Anew S and Bedlack, Richard S and Harper, J. Wade and Gitler, Aaron D and Rouleau, Guy A and Brown, Robert and Harms, Matthew B and Cooper, Gregory M and Harris, Tim and Myers, Richard M and Goldstein, David B and Hardiman, Orla and McLaughlin, Russell L and Mazzini, Letizia and Blair, Ian P and Williams, Kelly L and Nicholson, Garth A and Al-Sarraj, Safa and King, Anew and Scotter, Emma L and Troakes, Claire and Vance, Caroline and D'alfonso, Sana and Duga, Stefano and Corrado, Lucia and ten Asbroek, Anneloor L. M. A and Calini, Daniela and Colombrita, Claudia and Ratti, Antonia and Tiloca, Cinzia and Wu, Zheyang and Asress, Seneshaw and Polak, Meraida and Diekstra, Frank and van Rheenen, Wouter and Danielson, Eric W and Fallini, Claudia and Keagle, Pamela and Lewis, Elizabeth A and Kost, Jason and ... and FALS Sequencing Consortium
Science, ISSN 0036-8075, 2015, Volume 347, Issue 6229, pp. 1436 - 1441
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Journal Article
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 385, pp. eaah5642 - eaah5642
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2014, Volume 23, Issue 8, pp. 2005 - 2022
Neuronal ceroid lipofuscinosis (NCL) comprises 13 genetically distinct lysosomal disorders primarily affecting the central nervous system. Here we report... 
PLURIPOTENT STEM-CELLS | YEAST | MULTIVESICULAR BODY FORMATION | PROTEIN | ADENOASSOCIATED VIRUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | ORTHOLOGUE | GENETICS & HEREDITY | BATTEN-DISEASE | BTN1 | TRIPEPTIDYL-PEPTIDASE | Serine Proteases - genetics | Neurons - pathology | Cell Proliferation | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Golgi Apparatus - drug effects | Humans | Electrophysiology | Endoplasmic Reticulum - metabolism | Case-Control Studies | Immunoenzyme Techniques | Neuronal Ceroid-Lipofuscinoses - pathology | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - metabolism | Fenofibrate - pharmacology | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Endoplasmic Reticulum - drug effects | Neurons - metabolism | Neurons - drug effects | Aminopeptidases - metabolism | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Induced Pluripotent Stem Cells - pathology | Lysosomes - drug effects | Serine Proteases - metabolism | Aminopeptidases - genetics | Induced Pluripotent Stem Cells - drug effects | Cells, Cultured | Molecular Chaperones - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Gemfibrozil - pharmacology | Fibroblasts - pathology | Mutation - genetics | Blotting, Western | Membrane Glycoproteins - genetics | Fibroblasts - drug effects | Golgi Apparatus - metabolism | Models, Neurological | Index Medicus
Journal Article
Journal Article
by Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6