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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseIdentification of human gene products containing Pro-Pro-x-Tyr (PY) motifs that enhance glutathione and endocytotic marker uptake in yeastCharcot-Marie-Tooth disease and intracellular trafficMolecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic modelsSIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsAggresome formation and neurodegenerative diseases: therapeutic implicationsInsulin enhances growth hormone induction of the MEK/ERK signaling pathwayOntogenetic changes in the internal and external morphology of the ilium in modern humansPathogenesis of adolescent idiopathic scoliosis in girls - a double neuro-osseous theory involving disharmony between two nervous systems, somatic and autonomic expressed in the spine and trunk: possible dependency on sympathetic nervous system andThe Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.The role of GH/IGF-I-mediated mechanisms in sex differences in cortical bone size in miceAssociation of sexual maturation with excess body weight and height in children and adolescents.Longitudinal development of hormone levels and grey matter density in 9 and 12-year-old twinsPhysiological and pathological growth hormone secretion.The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal traffickingEarly growth response genes signaling supports strong paracrine capability of mesenchymal stem cells.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Inherited peripheral neuropathies.SIMPLE: A new regulator of endosomal trafficking and signaling in health and diseaseMutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Update on Charcot-Marie-Tooth disease.Molecular mechanisms of inherited demyelinating neuropathies.Endosomal phosphoinositides and human diseases.Common variants at ten loci influence QT interval duration in the QTGEN StudyEarly growth response-2 signaling mediates immunomodulatory effects of human multipotential stromal cellsProtein and micronutrient supplementation in complementing pubertal growth.Role of insulin-like growth factor-1 in the regulation of skeletal growth.Proteostasis and Diseases of the Motor Unit.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Skeletal effects of growth hormone and insulin-like growth factor-I therapy.Managing the Pediatric Spine: Growth Assessment.Neurotrophic and Neuroregenerative Effects of GH/IGF1.Mechanisms of heat inactivation in Salmonella serotype Typhimurium as affected by low water activity at different temperatures.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutation of a putative protein ...... Charcot-Marie-Tooth disease 1C
@nl
The regulation of pubertal growth.
@ast
The regulation of pubertal growth.
@en
type
label
Mutation of a putative protein ...... Charcot-Marie-Tooth disease 1C
@nl
The regulation of pubertal growth.
@ast
The regulation of pubertal growth.
@en
prefLabel
Mutation of a putative protein ...... Charcot-Marie-Tooth disease 1C
@nl
The regulation of pubertal growth.
@ast
The regulation of pubertal growth.
@en
P3181
P356
P1433
P1476
The regulation of pubertal growth.
@en
P2093
Dennis M Styne
P3181
P356
10.1159/000071222
P407
P433
P577
2003-01-01T00:00:00Z