JEFFREY NOEBELS to Phenotype
This is a "connection" page, showing publications JEFFREY NOEBELS has written about Phenotype.
Connection Strength
0.662
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Precision physiology and rescue of brain ion channel disorders. J Gen Physiol. 2017 May 01; 149(5):533-546.
Score: 0.071
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Early rescue of interneuron disease trajectory in developmental epilepsies. Curr Opin Neurobiol. 2016 Feb; 36:82-8.
Score: 0.064
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Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. Sci Transl Med. 2014 Jan 22; 6(220):220ra12.
Score: 0.057
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A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci. 2009 Jul 08; 29(27):8752-63.
Score: 0.042
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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: 0.031
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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: 0.027
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Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects. Dis Model Mech. 2022 09 01; 15(9).
Score: 0.026
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Modeling human epilepsies in mice. Epilepsia. 2001; 42 Suppl 5:11-5.
Score: 0.023
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Calcium channel defects in models of inherited generalized epilepsy. Epilepsia. 2000 Aug; 41(8):1074-5.
Score: 0.022
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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: 0.021
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Voltage-dependent calcium channel mutations in neurological disease. Ann N Y Acad Sci. 1999 Apr 30; 868:199-212.
Score: 0.020
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Overexpression of a Shaker-type potassium channel in mammalian central nervous system dysregulates native potassium channel gene expression. Proc Natl Acad Sci U S A. 1999 Mar 02; 96(5):2451-5.
Score: 0.020
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Selective failure of brain-derived neurotrophic factor mRNA expression in the cerebellum of stargazer, a mutant mouse with ataxia. J Neurosci. 1996 Jan 15; 16(2):640-8.
Score: 0.016
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Aberrant expression of neuropeptide Y in hippocampal mossy fibers in the absence of local cell injury following the onset of spike-wave synchronization. Brain Res Mol Brain Res. 1995 Jul; 31(1-2):111-21.
Score: 0.016
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Single locus mutations in mice expressing generalized spike-wave absence epilepsies. Ital J Neurol Sci. 1995 Feb-Mar; 16(1-2):107-11.
Score: 0.015
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Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice. J Neurosci. 2013 Mar 20; 33(12):5162-74.
Score: 0.013
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A burst-dependent hippocampal excitability defect elicited by potassium at the developmental onset of spike-wave seizures in the Tottering mutant. Brain Res Dev Brain Res. 1992 Feb 21; 65(2):205-10.
Score: 0.012
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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: 0.012
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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: 0.012
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Mutational analysis of spike-wave epilepsy phenotypes. Epilepsy Res Suppl. 1991; 4:201-12.
Score: 0.012
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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9.
Score: 0.011
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Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures. Epilepsy Res. 1990 Nov; 7(2):129-35.
Score: 0.011
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Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet. 1989 Sep; 6(1):53-6.
Score: 0.010
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Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet. 2007 Aug 01; 16(15):1802-13.
Score: 0.009
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A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet. 2006 Apr 01; 15(7):1169-79.
Score: 0.008
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Mutational analysis of inherited epilepsies. Adv Neurol. 1986; 44:97-113.
Score: 0.008
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Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci. 2004 Apr 21; 24(16):4030-42.
Score: 0.007
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Isolating single genes of the inherited epilepsies. Ann Neurol. 1984; 16 Suppl:S18-21.
Score: 0.007
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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). Cell Death Differ. 2003 Dec; 10(12):1329-35.
Score: 0.007
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Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003 May; 23(10):3646-55.
Score: 0.007
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Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Mamm Genome. 2003 Mar; 14(3):157-67.
Score: 0.007
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ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies. Epilepsia. 2002 Oct; 43(10):1262-7.
Score: 0.006
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Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking Kv3.2 K+ channel proteins. J Neurosci. 2000 Dec 15; 20(24):9071-85.
Score: 0.006
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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: 0.005
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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet. 1998 Nov; 20(3):251-8.
Score: 0.005
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Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci U S A. 1997 Dec 09; 94(25):14060-5.
Score: 0.005
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Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell. 1997 Oct 03; 91(1):139-48.
Score: 0.005
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A candidate model for Angelman syndrome in the mouse. Mamm Genome. 1997 Jul; 8(7):472-8.
Score: 0.005