The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
about
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyRHGF-2 is an essential Rho-1 specific RhoGEF that binds to the multi-PDZ domain scaffold protein MPZ-1 in Caenorhabditis elegansRhoE deficiency produces postnatal lethality, profound motor deficits and neurodevelopmental delay in miceAnalysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation.ATP7A-related copper transport diseases-emerging concepts and future trendsProgranulin is expressed within motor neurons and promotes neuronal cell survivalApplication of imputation methods to the analysis of rheumatoid arthritis data in genome-wide association studies.Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.Coordinated cell type-specific epigenetic remodeling in prefrontal cortex begins before birth and continues into early adulthood.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathySubstance dependence low-density whole genome association study in two distinct American populationsGenetics and genomic medicine in Mali: challenges and future perspectivesRNA processing defects associated with diseases of the motor neuronMutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?Syx, a RhoA guanine exchange factor, is essential for angiogenesis in Vivo.Neuropathology of brain and spinal malformations in a case of monosomy 1p36.PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.RhoGEFs in cell motility: novel links between Rgnef and focal adhesion kinase.Intermediate Charcot-Marie-Tooth disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.The neuronal RhoA GEF, Tech, interacts with the synaptic multi-PDZ-domain-containing protein, MUPP1.Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network.Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.Clinical diversity caused by novel IGHMBP2 variants.Genetic epidemiology of Charcot-Marie-Tooth disease.
P2860
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P2860
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The nuclear factor kappaB-acti ...... disease with childhood onset.
@ast
The nuclear factor kappaB-acti ...... disease with childhood onset.
@en
type
label
The nuclear factor kappaB-acti ...... disease with childhood onset.
@ast
The nuclear factor kappaB-acti ...... disease with childhood onset.
@en
prefLabel
The nuclear factor kappaB-acti ...... disease with childhood onset.
@ast
The nuclear factor kappaB-acti ...... disease with childhood onset.
@en
P2093
P2860
P50
P356
P1476
The nuclear factor kappaB-acti ...... disease with childhood onset.
@en
P2093
Barbara Lambert
Isabelle Maystadt
Louis Viollet
Martine Barkats
Mustapha Najimi
Pascal Vannuffel
René Rezsöhazy
Sandra Duque
Sophie Remacle
P2860
P356
10.1086/518900
P407
P577
2007-05-16T00:00:00Z