The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy (Q24338211)

3

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Renzo Guerrini

11

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Davide Mei

6

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Riccardo Vago

Riccardo Vago

2

0 references

Federico Zara

Federico Zara

5

0 references

Giorgio Casari

Giorgio Casari

12

0 references

Carlo Di Bonaventura

4

Carlo Di Bonaventura

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author name string

Maurizio De Fusco

1

0 references

Min Seuk Kim

7

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Shmuel Muallem

8

0 references

Yunjia Chen

9

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Qin Wang

The SWISS-MODEL Repository and associated resources

10

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language of work or name

English

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publication date

January 2014

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published in

Annals of Neurology

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volume

75

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issue

1

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page(s)

77-87

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cites work

1 reference

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Spinophilin/neurabin reciprocally regulate signaling intensity by G protein-coupled receptors

19 March 2017

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

19 March 2017

1 reference

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The SWISS-MODEL Repository of annotated three-dimensional protein structure homology models

19 March 2017

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Modulation of A-type potassium channels by a family of calcium sensors

19 March 2017

1 reference

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Role of arrestins in endocytosis and signaling of alpha2-adrenergic receptor subtypes

19 March 2017

1 reference

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Structure of the Human Dopamine D3 Receptor in Complex with a D2/D3 Selective Antagonist

19 March 2017

1 reference

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Spinophilin blocks arrestin actions in vitro and in vivo at G protein-coupled receptors

19 March 2017

1 reference

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Epilepsy genetics—past, present, and future

19 March 2017

1 reference

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Chronic adrenaline treatment fails to down-regulate the Del301-303-alpha2B-adrenoceptor in neuronal cells

27 September 2017

1 reference

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Alpha2A-adrenoceptors strengthen working memory networks by inhibiting cAMP-HCN channel signaling in prefrontal cortex.

27 September 2017

1 reference

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Regulation of alpha2AR trafficking and signaling by interacting proteins

27 September 2017

1 reference

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Spinophilin regulates Ca2 signalling by binding the N-terminal domain of RGS2 and the third intracellular loop of G-protein-coupled receptors

27 September 2017

1 reference

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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

27 September 2017

1 reference

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A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

27 September 2017

1 reference

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Spinophilin stabilizes cell surface expression of alpha 2B-adrenergic receptors

27 September 2017

1 reference

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Agonist-regulated Interaction between alpha2-adrenergic receptors and spinophilin

27 September 2017

1 reference

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Polymorphic deletion of three intracellular acidic residues of the alpha 2B-adrenergic receptor decreases G protein-coupled receptor kinase-mediated phosphorylation and desensitization

27 September 2017

1 reference

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Two functionally distinct alpha2-adrenergic receptors regulate sympathetic neurotransmission

27 September 2017

1 reference

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Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932827

Identification of a three-amino acid deletion in the alpha2B-adrenergic receptor that is associated with reduced basal metabolic rate in obese subjects

27 September 2017

1 reference

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Mechanism of quenching of phototransduction. Binding competition between arrestin and transducin for phosphorhodopsin.

27 September 2017

1 reference

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Subtype-specific intracellular trafficking of alpha2-adrenergic receptors

27 September 2017

1 reference

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International Union of Pharmacology nomenclature of adrenoceptors

27 September 2017

1 reference

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Receptors linked to inhibition of adenylate cyclase: additional signaling mechanisms

27 September 2017

1 reference

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Abnormal regulation of the sympathetic nervous system in alpha2A-adrenergic receptor knockout mice.

27 September 2017

1 reference

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Cellular and synaptic properties of amygdala-kindled pyriform cortex in vitro

30 May 2018

1 reference

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Biochemical and radiohistochemical analyses of alpha-2 adrenergic receptors in the kindling model of epilepsy

30 May 2018

1 reference

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Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype

30 May 2018

1 reference

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

21 January 2018

1 reference

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.

21 January 2018

1 reference

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

21 January 2018

1 reference

Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.

21 January 2018

1 reference

Insertion/deletion polymorphism in alpha2-adrenergic receptor gene is a genetic risk factor for sudden cardiac death

21 January 2018

1 reference

Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

21 January 2018

1 reference

α2‐Adrenoceptor‐mediated potassium currents in acutely dissociated rat locus coeruleus neurones

21 January 2018

1 reference

Inhibitory neurons in the human epileptogenic temporal neocortex. An immunocytochemical study.

21 January 2018

1 reference

Facilitation of rhythmic events in progressive myoclonus epilepsy: a transcranial magnetic stimulation study

21 January 2018

1 reference

Activation of subthalamic alpha 2 noradrenergic receptors induces motor deficits as a consequence of neuronal burst firing

21 January 2018

1 reference

Activation of alpha 2A adrenoceptors alters dendritic spine development and the expression of spinophilin in cultured cortical neurones

21 January 2018

1 reference

Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME

21 January 2018

1 reference

12 December 2020

Role of forebrain catecholamines in amygdaloid kindling

1 reference

12 December 2020

Evidence implicating alpha-2 adrenergic receptors in the anticonvulsant action of intranigral muscimol

1 reference

12 December 2020

Effects of noradrenaline on the GABA response in rat isolated spiral ganglion neurons in culture

1 reference

12 December 2020

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

1 reference

12 December 2020