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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseHereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Pharmacogenetics of analgesic drugsThe evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?WNK Kinases in Development and Disease.Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
name
Molecular genetics of hereditary sensory neuropathies.
@ast
Molecular genetics of hereditary sensory neuropathies.
@en
type
label
Molecular genetics of hereditary sensory neuropathies.
@ast
Molecular genetics of hereditary sensory neuropathies.
@en
prefLabel
Molecular genetics of hereditary sensory neuropathies.
@ast
Molecular genetics of hereditary sensory neuropathies.
@en
P2093
P2860
P356
P1476
Molecular genetics of hereditary sensory neuropathies.
@en
P2093
Barbara Mauko
Piet Auer-Grumbach
Thomas R Pieber
P2860
P2888
P304
P356
10.1385/NMM:8:1-2:147
P577
2006-01-01T00:00:00Z
P6179
1005887450