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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger
Published in Human genetics (01.08.2021)
Published in Human genetics (01.08.2021)
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Lewy Body Variant of Alzheimer's Disease: Selective Neocortical Loss of t-SNARE Proteins and Loss of MAP2 and α-Synuclein in Medial Temporal Lobe
Mukaetova-Ladinska, Elizabeta B., Xuereb, John H., Garcia-Sierra, Francisco, Hurt, Jenny, Gertz, Herman-J., Hills, Richard, Brayne, Carol, Huppert, Felicia A., Paykel, Eugene S., McGee, Magnus A., Jakes, Ross, Honer, William G., Harrington, Charles R., Wischik, Claude M.
Published in TheScientificWorld (01.01.2009)
Published in TheScientificWorld (01.01.2009)
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A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern
Romaniello, Romina, Zucca, Claudio, Tenderini, Erika, Arrigoni, Filippo, Ragona, Francesca, Zorzi, Giovanna, Bassi, Maria Teresa, Borgatti, Renato
Published in Journal of child neurology (01.02.2014)
Published in Journal of child neurology (01.02.2014)
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Novel pathophysiological markers are revealed by iTRAQ-based quantitative clinical proteomics approach in vascular dementia
Datta, Arnab, Qian, Jingru, Chong, Ruifen, Kalaria, Raj N., Francis, Paul, Lai, Mitchell K.P., Chen, Christopher P., Sze, Siu Kwan
Published in Journal of proteomics (17.03.2014)
Published in Journal of proteomics (17.03.2014)
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Age and gender related differences in human parotid gland gene expression
Srivastava, Alaka, Wang, Jianghua, Zhou, Hui, Melvin, James E., Wong, David T.
Published in Archives of oral biology (01.11.2008)
Published in Archives of oral biology (01.11.2008)
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Identification of biomarkers for COVID-19 associated secondary hemophagocytic lymphohistiocytosis
Canny, Susan P, Stanaway, Ian B, Holton, Sarah E, Mitchem, Mallorie, O'Rourke, Allison R, Pribitzer, Stephan, Baxter, Sarah K, Wurfel, Mark M, Malhotra, Uma, Buckner, Jane H, Bhatraju, Pavan K, Morrell, Eric D, Speake, Cate, Mikacenic, Carmen, Hamerman, Jessica A
Published in bioRxiv (15.08.2024)
Published in bioRxiv (15.08.2024)
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Altered Neuronal Markers Following Treatment with Mood Stabilizer and Antipsychotic Drugs Indicate an Increased Likelihood of Neurotransmitter Release
Scarr, Elizabeth, Dean, Brian
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (01.04.2012)
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (01.04.2012)
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Alternative trafficking of Weibel‐Palade body proteins in CRISPR/Cas9‐engineered von Willebrand factor–deficient blood outgrowth endothelial cells
Schillemans, Maaike, Kat, Marije, Westeneng, Jurjen, Gangaev, Anastasia, Hofman, Menno, Nota, Benjamin, van Alphen, Floris P.J., de Boer, Martin, van den Biggelaar, Maartje, Margadant, Coert, Voorberg, Jan, Bierings, Ruben
Published in Research and practice in thrombosis and haemostasis (01.10.2019)
Published in Research and practice in thrombosis and haemostasis (01.10.2019)
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Deletion of the Synaptic Protein Interaction Site of the N-Type ( Ca V2.2) Calcium Channel Inhibits Secretion in Mouse Pheochromocytoma Cells
Harkins, Amy B., Cahill, Anne L., Powers, James F., Tischler, Arthur S., Fox, Aaron P., Catterall, William A.
Published in Proceedings of the National Academy of Sciences - PNAS (19.10.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (19.10.2004)
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Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome
Ortega-Moreno, L, Giráldez, B G, Verdú, A, García-Campos, O, Sánchez-Martín, G, Serratosa, J M, Guerrero-López, R
Published in Neurologia (Barcelona, Spain) (01.10.2016)
Published in Neurologia (Barcelona, Spain) (01.10.2016)
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SA4 - CONVERGENT FUNCTIONAL GENOMICS APPROACH TO IDENTIFY GENES INVOLVED IN ATTENTION DEFICIT/HYPERACTIVITY DISORDER
Rovira, Paula, Artigas, María Soler, Garcia-Martínez, Iris, Sánchez-Mora, Cristina, Pagerols, Mireia, Calvo-Sánchez, Eva, Mortimer, Niall, Corrales, Montse, Richarte, Vanesa, Cormand, Bru, Casas, Miguel, Ramos-Quiroga, Josep Antoni, Ribasés, Marta
Published in European neuropsychopharmacology (2019)
Published in European neuropsychopharmacology (2019)
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Rerouting trafficking circuits through posttranslational SNARE modifications
Warner, Harry, Mahajan, Shweta, van den Bogaart, Geert
Published in Journal of cell science (15.08.2022)
Published in Journal of cell science (15.08.2022)
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Alterations in Insulin-Signaling and Coagulation Pathways in Platelets During Hyperglycemia-Hyperinsulinemia
Rao, A. Koneti, Freishtat, Robert, Jalagadugula, Gauthami, Singh, Anamika, Mao, Guangfen, Wiles, Andrew, Cheung, Peter, Boden, Guenther
Published in Blood (16.11.2012)
Published in Blood (16.11.2012)
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