Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?
about
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceMutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaDominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyGenetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.
P2860
Q24339600-FB4C1A9C-21A2-4430-A160-CAF6B26FA744Q30415898-8D3601EB-3B9A-4D51-B713-A280C0389237Q34053293-4FBB1E7C-8D2E-4425-B21E-559DDC580D8AQ34277160-08BA3F13-2003-4873-8848-0D7BA7EDD4A0Q35014883-CEABA10E-6040-41CB-BD4B-75AAEEDD4946Q35106604-7ABA77E2-1235-4DAA-A7C6-029B14391A48Q38042727-10758AA1-FFE0-45BE-B99D-5D707751892AQ41920126-E7797F6F-4F97-4F26-89A2-E529C8F9C238
P2860
Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 June 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Autosomal dominant congenital ...... deficiency of motor neurones?
@en
Autosomal dominant congenital ...... deficiency of motor neurones?
@nl
type
label
Autosomal dominant congenital ...... deficiency of motor neurones?
@en
Autosomal dominant congenital ...... deficiency of motor neurones?
@nl
prefLabel
Autosomal dominant congenital ...... deficiency of motor neurones?
@en
Autosomal dominant congenital ...... deficiency of motor neurones?
@nl
P2093
P1476
Autosomal dominant congenital ...... deficiency of motor neurones?
@en
P2093
P304
P356
10.1016/J.NMD.2008.04.016
P577
2008-06-24T00:00:00Z