New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

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http://www.wikidata.org/entity/Q24678385
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis."Personalizing" academic medicine: opportunities and challenges in implementing genomic profilingSensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1Processing of nerve biopsies: a practical guide for neuropathologists.Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Giant axonal neuropathy: a pictorial essay and review of literature.Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.Measuring disease progression in giant axonal neuropathy: implications for clinical trial design.AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials.Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy.Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy.
P2860

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

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http://www.wikidata.org/entity/Q24678385
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
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
name
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@ast
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@en
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@nl
type
label
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@ast
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@en
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@nl
prefLabel
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@ast
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@en
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
New mutations, genotype phenot ...... ers in giant axonal neuropathy
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932