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Internal Medicine Journal, ISSN 1444-0903, 11/2018, Volume 48, Issue S6, pp. 20 - 21
Journal Article
Journal of Thoracic Disease, ISSN 2072-1439, 11/2018, Volume 10, Issue Suppl 33, pp. S4140 - S4143
Journal Article
Journal Article
Journal Article
by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Journal Article
Neuroscience, ISSN 0306-4522, 2018
In central synapses, synaptobrevin-2 (also called VAMP-2) is the predominant synaptic vesicle SNARE protein that interacts with the plasma membrane SNAREs,... 
startle | anxiety | haploinsufficiency | learning | synaptobrevin-2 | behavior | SNAP-25
Journal Article
Epilepsia, ISSN 0013-9580, 12/2010, Volume 51, Issue 12, pp. 2397 - 2405
Journal Article
Nature Medicine, ISSN 1078-8956, 03/2018, Volume 24, Issue 3, pp. 313 - 325
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the... 
MEDICINE, RESEARCH & EXPERIMENTAL | STEM-CELLS | REPEAT EXPANSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRONTOTEMPORAL DEMENTIA | ALS | TRAFFICKING | AMYOTROPHIC-LATERAL-SCLEROSIS | CELL BIOLOGY | IN-VIVO | HUMAN FIBROBLASTS | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | C9orf72 Protein - genetics | Frontotemporal Dementia - genetics | Haploinsufficiency - genetics | rab5 GTP-Binding Proteins - genetics | Introns - genetics | Endosomes - genetics | DNA Repeat Expansion - genetics | Gene Expression Regulation - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Motor Neurons - pathology | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Animals | Mutation | Disease Models, Animal | Frontotemporal Dementia - pathology | Care and treatment | Development and progression | Amyotrophic lateral sclerosis | Genetic aspects | Open reading frames | Gene expression | Frontotemporal dementia | Health aspects | Motor neurons | Animal models | Cell survival | Neurons | Trafficking | Motor ability | Glutamic acid receptors | Neuromodulation | Modulators | Sclerosis | Haploinsufficiency | Proteins | Receptors | Neurotoxicity | Neurodegeneration | Rodents | Excitotoxicity | Dementia disorders | Evolution | Expansion | Endosomes | Index Medicus
Journal Article
Nature Neuroscience, ISSN 1097-6256, 08/2017, Volume 20, Issue 8, pp. 1062 - 1073
Journal Article
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 385, pp. eaah5642 - eaah5642
Journal Article
Scientific reports, ISSN 2045-2322, 04/2018, Volume 8, Issue 1, pp. 6781 - 3
A correction to this article has been published and is linked from the HTML version of this paper. The error has not been fixed in the paper. 
Dentate gyrus | γ-Aminobutyric acid | Haploinsufficiency
Journal Article