A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
about
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Severe congenital microcephaly with AP4M1 mutation, a case report.Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyGenotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?Clinical and genetic characterization of AP4B1-associated SPG47.Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.
P2860
Q35234093-15A7DD64-16CD-497F-AD84-F1E1A021B91FQ36361239-027DB0F4-8A5E-4632-96E6-12997BE0BC9CQ41921675-8319DDBD-8ABC-4AAB-92ED-90CFD0E2E0B1Q47106032-4CE60922-07B8-45C8-8FD1-630793FFBBCBQ50229936-A9CF961D-BEFD-45F9-8D9C-CFCA3EDF8EB9Q52421616-00610B59-AE74-4CD9-AA77-C49759D93F85Q55271983-3083062B-74B4-4C8C-97E6-21273EA1793C
P2860
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@ast
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@en
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@nl
type
label
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@ast
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@en
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@nl
prefLabel
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@ast
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@en
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@nl
P2093
P2860
P1433
P1476
A novel AP4M1 mutation in auto ...... l expansion of AP-4 deficiency
@en
P2093
Abubakar Moawia
Muhammad Jameel
Muhammad Tariq
Naveed Altaf Malik
Niklas Dahl
Raili Raininko
Shahid Mahmood Baig
Syeda Seema Waseem
Tahir Naeem Khan
Uzma Abdullah
P2860
P2888
P356
10.1186/S12881-014-0133-2
P50
P577
2014-12-14T00:00:00Z
P5875
P6179
1048299223