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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 2
1995 2
1996 2
1997 2
1998 4
1999 2
2000 10
2001 4
2002 1
2003 7
2004 10
2005 7
2006 4
2007 7
2008 5
2009 8
2010 11
2011 15
2012 15
2013 27
2014 20
2015 22
2016 21
2017 17
2018 18
2019 15
2020 8
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238 results
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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. ...RESULTS: We describe the phenotypic features of 147 patients with …
OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by syst …
STXBP1 as a therapeutic target for epileptic encephalopathy.
Stamberger H, Weckhuysen S, De Jonghe P. Stamberger H, et al. Expert Opin Ther Targets. 2017 Nov;21(11):1027-1036. doi: 10.1080/14728222.2017.1386175. Epub 2017 Oct 5. Expert Opin Ther Targets. 2017. PMID: 28971703 Review.
STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E). In this review we hypothesi
STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epi
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V, Chai YJ, Brouillet JZ, Weckhuysen S, Palmer EE, Collins BM, Meunier FA. Lanoue V, et al. Neurology. 2019 Jul 16;93(3):114-123. doi: 10.1212/WNL.0000000000007786. Epub 2019 Jun 20. Neurology. 2019. PMID: 31221716 Review.
De novo pathogenic variants in STXBP1 encoding syntaxin1-binding protein (STXBP1, also known as Munc18-1) lead to a range of early-onset neurocognitive conditions, most commonly early infantile epileptic encephalopathy type 4 (EIEE4, also called STXBP1
De novo pathogenic variants in STXBP1 encoding syntaxin1-binding protein (STXBP1, also known as Munc18-1) lead to a ran …
STXBP1 encephalopathy is associated with awake bruxism.
Rezazadeh A, Uddin M, Snead OC 3rd, Lira V, Silberberg A, Weiss S, Donner EJ, Zak M, Bradbury L, Scherer SW, Fasano A, Andrade DM. Rezazadeh A, et al. Epilepsy Behav. 2019 Mar;92:121-124. doi: 10.1016/j.yebeh.2018.12.018. Epub 2019 Jan 14. Epilepsy Behav. 2019. PMID: 30654231
Heterozygous mutations in syntaxin-binding protein 1 (STXBP1) gene are associated with early infantile epileptic encephalopathy 4 (EIEE4). ...This is the first study to demonstrate A-BRX in patients with STXBP1 mutation. Given the role of STXBP1 in exocytosis …
Heterozygous mutations in syntaxin-binding protein 1 (STXBP1) gene are associated with early infantile epileptic encephalopathy 4 (EI …
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Kovacevic J, Maroteaux G, Schut D, Loos M, Dubey M, Pitsch J, Remmelink E, Koopmans B, Crowley J, Cornelisse LN, Sullivan PF, Schoch S, Toonen RF, Stiedl O, Verhage M. Kovacevic J, et al. Brain. 2018 May 1;141(5):1350-1374. doi: 10.1093/brain/awy046. Brain. 2018. PMID: 29538625 Free PMC article.
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. ...Together, these cellular …
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) chara …
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. Chen W, et al. Elife. 2020 Feb 19;9:e48705. doi: 10.7554/eLife.48705. Elife. 2020. PMID: 32073399 Free PMC article.
Syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) is an essential component of the presynaptic neurotransmitter release machinery. ...Here we modeled STXBP1 encephalopathy in mice and found that Stxbp1 haploinsufficiency caused cognitive, psy …
Syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) is an essential component of the presynaptic neurotransmitter rele …
Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.
Zhu B, Mak JCH, Morris AP, Marson AG, Barclay JW, Sills GJ, Morgan A. Zhu B, et al. Epilepsia. 2020 Apr;61(4):810-821. doi: 10.1111/epi.16464. Epub 2020 Feb 29. Epilepsia. 2020. PMID: 32112430
OBJECTIVE: Genetic variants in STXBP1, which encodes the conserved exocytosis protein Munc18-1, are associated with a variety of infantile epilepsy syndromes. ...We subsequently rescued this strain with transgenes encoding the human STXBP1/Munc18-1 pro …
OBJECTIVE: Genetic variants in STXBP1, which encodes the conserved exocytosis protein Munc18-1, are associated with a variety …
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
Li T, Cheng M, Wang J, Hong S, Li M, Liao S, Xie L, Jiang L. Li T, et al. Genes Brain Behav. 2018 Nov;17(8):e12492. doi: 10.1111/gbb.12492. Epub 2018 Sep 12. Genes Brain Behav. 2018. PMID: 29896790
Targeted next-generation sequencing was used to identify STXBP1 mutations in 143 Chinese patients with EOEE of unknown etiology. ...Five novel heterozygous de novo STXBP1 mutations were discovered in patients with EOEE from China. STXBP1 mutational analysis s …
Targeted next-generation sequencing was used to identify STXBP1 mutations in 143 Chinese patients with EOEE of unknown etiology. ...F …
MUNC18-1 regulates the submembrane F-actin network, independently of syntaxin1 targeting, via hydrophobicity in β-sheet 10.
Pons-Vizcarra M, Kurps J, Tawfik B, Sørensen JB, van Weering JRT, Verhage M. Pons-Vizcarra M, et al. J Cell Sci. 2019 Dec 2;132(23):jcs234674. doi: 10.1242/jcs.234674. J Cell Sci. 2019. PMID: 31719162 Free article.
MUNC18-1 (also known as STXBP1) is an essential protein for docking and fusion of secretory vesicles. Mouse chromaffin cells (MCCs) lacking MUNC18-1 show impaired secretory vesicle docking, but also mistargeting of SNARE protein syntaxin1 and an abnormally de
MUNC18-1 (also known as STXBP1) is an essential protein for docking and fusion of secretory vesicles. Mouse chromaffin cells (
Tyrosine phosphorylation of Munc18-1 inhibits synaptic transmission by preventing SNARE assembly.
Meijer M, Dörr B, Lammertse HC, Blithikioti C, van Weering JR, Toonen RF, Söllner TH, Verhage M. Meijer M, et al. EMBO J. 2018 Jan 17;37(2):300-320. doi: 10.15252/embj.201796484. Epub 2017 Nov 17. EMBO J. 2018. PMID: 29150433 Free PMC article.
Here, we describe a key component of the synaptic vesicle release machinery, Munc18-1, as a phosphorylation target for neuronal Src family kinases (SFKs). Phosphomimetic Y473D mutation of a SFK phosphorylation site previously identified by brain phospho-proteomics abolishe …
Here, we describe a key component of the synaptic vesicle release machinery, Munc18-1, as a phosphorylation target for neuronal Src f …
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