HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Item
http://www.wikidata.org/entity/Q48026253
Chaperonopathies: Spotlight on Hereditary Motor NeuropathiesCMTX1 patients' cells present genomic instability corrected by CamKII inhibitorsIdentification of a de novo DYNC1H1 mutation via WES according to published guidelines.Molecular chaperones and neuronal proteostasis.Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosisReply: The role of DNAJB2 in amyotrophic lateral sclerosis.Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Clinical diversity caused by novel IGHMBP2 variants.The role of DNAJB2 in amyotrophic lateral sclerosis.Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.DNAJ Proteins in neurodegeneration: essential and protective factors.
P2860

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Item
http://www.wikidata.org/entity/Q48026253
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@en
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@nl
type
label
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@en
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@nl
prefLabel
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@en
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
@en
P2093
P304
P31
P356
10.1212/WNL.0000000000000966
P407
P433
P478
P50
P577
P698