JEFFREY NOEBELS to Mutation
This is a "connection" page, showing publications JEFFREY NOEBELS has written about Mutation.
Connection Strength
2.155
-
Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome. Dis Model Mech. 2020 03 30; 13(3).
Score: 0.265
-
Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. Proc Natl Acad Sci U S A. 2016 08 16; 113(33):E4895-903.
Score: 0.205
-
Pathway-driven discovery of epilepsy genes. Nat Neurosci. 2015 Mar; 18(3):344-50.
Score: 0.186
-
Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons. Neuron. 2014 Jun 18; 82(6):1317-33.
Score: 0.177
-
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. Curr Opin Neurobiol. 2012 Oct; 22(5):859-65.
Score: 0.153
-
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet. 2005 Jun 15; 14(12):1613-20.
Score: 0.094
-
Sodium channel gene expression and epilepsy. Novartis Found Symp. 2002; 241:109-20; discussion 120-3, 226-32.
Score: 0.075
-
Predicting the impact of sodium channel mutations in human brain disease. Epilepsia. 2019 12; 60 Suppl 3:S8-S16.
Score: 0.065
-
Single gene defects in mice: the role of voltage-dependent calcium channels in absence models. Epilepsy Res. 1999 Sep; 36(2-3):111-22.
Score: 0.064
-
Voltage-dependent calcium channel mutations in neurological disease. Ann N Y Acad Sci. 1999 Apr 30; 868:199-212.
Score: 0.062
-
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell. 1997 Feb 07; 88(3):385-92.
Score: 0.053
-
Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. PLoS One. 2016; 11(9):e0162883.
Score: 0.052
-
Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy. J Neurosci. 2016 Jan 13; 36(2):405-18.
Score: 0.049
-
Shift in interictal relative gamma power as a novel biomarker for drug response in two mouse models of absence epilepsy. Epilepsia. 2016 Jan; 57(1):79-88.
Score: 0.049
-
Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models. Sci Transl Med. 2015 Apr 08; 7(282):282ra46.
Score: 0.047
-
Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. Sci Transl Med. 2014 Jan 22; 6(220):220ra12.
Score: 0.043
-
How can advances in epilepsy genetics lead to better treatments and cures? Adv Exp Med Biol. 2014; 813:309-17.
Score: 0.043
-
Transcompartmental reversal of single fibre hyperexcitability in juxtaparanodal Kv1.1-deficient vagus nerve axons by activation of nodal KCNQ channels. J Physiol. 2012 Aug 15; 590(16):3913-26.
Score: 0.038
-
Synchronous hippocampal bursting reveals network excitability defects in an epilepsy gene mutation. Proc Natl Acad Sci U S A. 1991 Jun 01; 88(11):4736-40.
Score: 0.036
-
Mutational analysis of spike-wave epilepsy phenotypes. Epilepsy Res Suppl. 1991; 4:201-12.
Score: 0.035
-
Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet. 1989 Sep; 6(1):53-6.
Score: 0.032
-
T-type calcium channels: from discovery to channelopathies, 25 years of research. Channels (Austin). 2008 Jul-Aug; 2(4):299-302.
Score: 0.029
-
Masking epilepsy by combining two epilepsy genes. Nat Neurosci. 2007 Dec; 10(12):1554-8.
Score: 0.028
-
Mutational analysis of inherited epilepsies. Adv Neurol. 1986; 44:97-113.
Score: 0.025
-
WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12. Prog Neurobiol. 2023 04; 223:102425.
Score: 0.020
-
Exploring new gene discoveries in idiopathic generalized epilepsy. Epilepsia. 2003; 44 Suppl 2:16-21.
Score: 0.020
-
Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J Neurosci. 2002 Aug 01; 22(15):6362-71.
Score: 0.019
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54.
Score: 0.019
-
Modeling human epilepsies in mice. Epilepsia. 2001; 42 Suppl 5:11-5.
Score: 0.017
-
Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the alpha1A subunit of P/Q type calcium channels. Neuroscience. 2000; 95(3):639-45.
Score: 0.016
-
Analysis of inherited epilepsy using single locus mutations in mice. Fed Proc. 1979 Sep; 38(10):2405-10.
Score: 0.016
-
Single-gene models of epilepsy. Adv Neurol. 1999; 79:227-38.
Score: 0.015
-
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 1998 Oct; 21(4):799-811.
Score: 0.015
-
Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron. 1998 Jul; 21(1):111-22.
Score: 0.015
-
Targeting epilepsy genes. Neuron. 1996 Feb; 16(2):241-4.
Score: 0.012
-
Ion channels in genetic and acquired forms of epilepsy. J Physiol. 2013 Feb 15; 591(4):753-64.
Score: 0.010
-
Genetic and phenotypic heterogeneity of inherited spike-wave epilepsy: two mutant gene loci with independent cerebral excitability defects. Brain Res. 1991 Jul 26; 555(1):43-50.
Score: 0.009
-
Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations. J Neurosci. 2011 Mar 16; 31(11):4311-26.
Score: 0.009
-
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol. 2008 Jul 15; 586(14):3405-23.
Score: 0.007
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
Score: 0.006
-
Isolating single genes of the inherited epilepsies. Ann Neurol. 1984; 16 Suppl:S18-21.
Score: 0.005
-
Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 2002 May 28; 58(10):1559-62.
Score: 0.005
-
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia. 2001 Sep; 42(9):1103-11.
Score: 0.005
-
Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy. Proc Natl Acad Sci U S A. 2000 Jan 18; 97(2):865-70.
Score: 0.004
-
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet. 1998 Nov; 20(3):251-8.
Score: 0.004