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Select item 84245001.

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

Andrea Accogli, Gert Wiegand, Marcello Scala, Caterina Cerminara, Michele Iacomino, Antonella Riva, Barbara Carlini, Letizia Camerota, Vincenzo Belcastro, Paolo Prontera, Alberto Fernández-Jaén, Nerses Bebek, Paolo Scudieri, Simona Baldassari, Vincenzo Salpietro, Giuseppe Novelli, Chiara De Luca, Celina von Stülpnagel, Felicitas Kluger, Gerhard Josef Kluger, Gabriele Christine Wohlrab, Georgia Ramantani, David Lewis-Smith, Rhys H. Thomas, Ming Lai, Alberto Verrotti, Salvatore Striano, Christel Depienne, Carlo Minetti, Fabio Benfenati, Francesco Brancati, Federico Zara, Pasquale Striano

Neurology. 2021 Aug 10; 97(6): e577–e586. doi: 10.1212/WNL.0000000000012298

PMCID:: PMC8424500

Abstract Article PDF–551K

Select item 82722542.

Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients

Juan Xiong, Haolin Duan, Shimeng Chen, Miriam Kessi, Fang He, Xiaolu Deng, Ciliu Zhang, Li Yang, Jing Peng, Fei Yin

BMC Med Genomics. 2021; 14: 182. Published online 2021 Jul 9. doi: 10.1186/s12920-021-01028-4

PMCID:: PMC8272254

Abstract Article PDF–1.2M

Select item 74924273.

Semaphorin 3A controls enteric neuron connectivity and is inversely associated with synapsin 1 expression in Hirschsprung disease

Jacques Gonzales, Catherine Le Berre-Scoul, Anne Dariel, Paul Bréhéret, Michel Neunlist, Hélène Boudin

Sci Rep. 2020; 10: 15119. Published online 2020 Sep 15. doi: 10.1038/s41598-020-71865-3

PMCID:: PMC7492427

Abstract Article PDF–4.2M

Select item 68663024.

Effects of SYN1_Q555X mutation on cortical gray matter microstructure

Jean‐François Cabana, Guillaume Gilbert, Laurent Létourneau‐Guillon, Dima Safi, Isabelle Rouleau, Patrick Cossette, Dang Khoa Nguyen

Hum Brain Mapp. 2018 Aug; 39(8): 3428–3448. Published online 2018 Apr 19. doi: 10.1002/hbm.24186

PMCID:: PMC6866302

Abstract Article PDF–8.3M

Select item 68561945.

Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function

Anna Rocchi, Silvio Sacchetti, Antonio De Fusco, Silvia Giovedi, Barbara Parisi, Fabrizia Cesca, Markus Höltje, Klemens Ruprecht, Gudrun Ahnert-Hilger, Fabio Benfenati

Cell Death Dis. 2019 Nov; 10(11): 864. Published online 2019 Nov 14. doi: 10.1038/s41419-019-2106-z

Correction in:: Cell Death Dis. 2020 Jan; 11(1): 27.

PMCID:: PMC6856194

Abstract Article PDF–9.3M

Select item 47134976.

Increased synapsin I expression in cerebral malaria

Klairoong Thonsranoi, Supattra Glaharn, Chuchard Punsawad, Urai Chaisri, Srivicha Krudsood, Parnpen Viriyavejakul

Int J Clin Exp Pathol. 2015; 8(11): 13996–14004. Published online 2015 Nov 1.

PMCID:: PMC4713497

Abstract Article PDF–1.4M

Select item 17356887.

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

C Garcia, H Blair, M Seager, A Coulthard, S Tennant, M Buddles, A Curtis, J Goodship

J Med Genet. 2004 Mar; 41(3): 183–186. doi: 10.1136/jmg.2003.013680

PMCID:: PMC1735688

Summary PDF–377K

Select item 16831988.

A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

C U Kirchgessner, J A Trofatter, M M Mahtani, H F Willard, L J DeGennaro

Am J Hum Genet. 1991 Jul; 49(1): 184–191.

PMCID:: PMC1683198

Summary Page Browse PDF–1.1M

Select item 78016649.

Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells

Daehun Park, Yumei Wu, Sang-Eun Lee, Goeun Kim, Seonyoung Jeong, Dragomir Milovanovic, Pietro De Camilli, Sunghoe Chang

Nat Commun. 2021; 12: 263. Published online 2021 Jan 11. doi: 10.1038/s41467-020-20462-z

PMCID:: PMC7801664

Abstract Article PDF–4.5M

Select item 368860310.

Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I

Maila Giannandrea, Fabrizia C. Guarnieri, Niels H. Gehring, Elena Monzani, Fabio Benfenati, Andreas E. Kulozik, Flavia Valtorta

PLoS One. 2013; 8(6): e67724. Published online 2013 Jun 20. doi: 10.1371/journal.pone.0067724

PMCID:: PMC3688603

Abstract Article PDF–5.3M

Select item 338983011.

A Role for Syndecan-1 and Claudin-2 in Microbial Translocation during HIV-1 Infection

Anthony J. Smith, Timothy W. Schacker, Cavan S. Reilly, Ashley T. Haase

J Acquir Immune Defic Syndr. Author manuscript; available in PMC 2012 Jul 5.

Published in final edited form as: J Acquir Immune Defic Syndr. 2010 Nov; 55(3): 306–315. doi: 10.1097/QAI.0b013e3181ecfeca

PMCID:: PMC3389830

Abstract Article PDF–4.9M

Select item 115107412.

Site specificity in the interactions of synapsin 1 with tubulin.

A F Bennett, N V Hayes, A J Baines

Biochem J. 1991 Jun 15; 276(Pt 3): 793–799. doi: 10.1042/bj2760793

PMCID:: PMC1151074

Summary Page Browse PDF–1.8M

Select item 38699413.

Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

T L Yang-Feng, L J DeGennaro, U Francke

Proc Natl Acad Sci U S A. 1986 Nov; 83(22): 8679–8683. doi: 10.1073/pnas.83.22.8679

PMCID:: PMC386994

Summary Page Browse PDF–1.1M

Select item 29932714.

Amino acid sequences surrounding the cAMP-dependent and calcium/calmodulin-dependent phosphorylation sites in rat and bovine synapsin I.

A J Czernik, D T Pang, P Greengard

Proc Natl Acad Sci U S A. 1987 Nov; 84(21): 7518–7522. doi: 10.1073/pnas.84.21.7518

PMCID:: PMC299327

Summary Page Browse PDF–1.2M

Select item 938163315.

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

Claudia S. Bauer, Rebecca N. Cohen, Francesca Sironi, Matthew R. Livesey, Thomas H. Gillingwater, J. Robin Highley, Daniel J. Fillingham, Ian Coldicott, Emma F. Smith, Yolanda B. Gibson, Christopher P. Webster, Andrew J. Grierson, Caterina Bendotti, Kurt J. De Vos

Acta Neuropathol. 2022; 144(3): 437–464. Published online 2022 Jul 25. doi: 10.1007/s00401-022-02470-z

PMCID:: PMC9381633

Abstract Article PDF–11M

Select item 498212216.

DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression

Cristiana Cruceanu, Elena Kutsarova, Elizabeth S. Chen, David R. Checknita, Corina Nagy, Juan Pablo Lopez, Martin Alda, Guy A. Rouleau, Gustavo Turecki

BMC Psychiatry. 2016; 16: 286. Published online 2016 Aug 11. doi: 10.1186/s12888-016-0989-0

PMCID:: PMC4982122

Abstract Article PDF–869K

Select item 365241917.

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

Gabriele Lignani, Andrea Raimondi, Enrico Ferrea, Anna Rocchi, Francesco Paonessa, Fabrizia Cesca, Marta Orlando, Tatiana Tkatch, Flavia Valtorta, Patrick Cossette, Pietro Baldelli, Fabio Benfenati

Hum Mol Genet. 2013 Jun 1; 22(11): 2186–2199. Published online 2013 Feb 12. doi: 10.1093/hmg/ddt071

PMCID:: PMC3652419

Abstract Article PDF–878K

Select item 546863618.

Selective lowering of synapsins induced by oligomeric α-synuclein exacerbates memory deficits

Megan E. Larson, Susan J. Greimel, Fatou Amar, Michael LaCroix, Gabriel Boyle, Mathew A. Sherman, Hallie Schley, Camille Miel, Julie A. Schneider, Rakez Kayed, Fabio Benfenati, Michael K. Lee, David A. Bennett, Sylvain E. Lesné

Proc Natl Acad Sci U S A. 2017 Jun 6; 114(23): E4648–E4657. Published online 2017 May 22. doi: 10.1073/pnas.1704698114

PMCID:: PMC5468636

Abstract Article PDF–1.5M

Select item 356495219.

H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression

Cristiana Cruceanu, Martin Alda, Corina Nagy, Erika Freemantle, Guy A. Rouleau, Gustavo Turecki

Int J Neuropsychopharmacol. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Int J Neuropsychopharmacol. 2013 Mar; 16(2): 289–299. Published online 2012 May 9. doi: 10.1017/S1461145712000363

PMCID:: PMC3564952

Abstract Article PDF–821K

Select item 4422720.

Interaction of Grb2 via its Src homology 3 domains with synaptic proteins including synapsin I.

P S McPherson, A J Czernik, T J Chilcote, F Onofri, F Benfenati, P Greengard, J Schlessinger, P De Camilli

Proc Natl Acad Sci U S A. 1994 Jul 5; 91(14): 6486–6490. doi: 10.1073/pnas.91.14.6486

PMCID:: PMC44227

Summary Page Browse PDF–1.3M

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