Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
about
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
P2860
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 October 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
@en
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
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type
label
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
@en
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
@nl
prefLabel
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
@en
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
@nl
P2093
P2860
P1476
Pilot phenotype and natural hi ...... y mutations in the HSPB1 gene.
@en
P2093
Hadi Manji
Henry Houlden
James M Polke
Jasper M Morrow
Julian Blake
Mary M Reilly
Matilde Laura
P2860
P356
10.1016/J.NMD.2016.10.001
P577
2016-10-08T00:00:00Z