Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

Item
http://www.wikidata.org/entity/Q34383503
The 15q11.2 BP1-BP2 microdeletion syndrome: a reviewFunctional characterization of NIPA2, a selective Mg2+ transporterNIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporterDrosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanismHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutationMicroarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsMolecular identification of ancient and modern mammalian magnesium transporters.Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
P2860

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

Item
http://www.wikidata.org/entity/Q34383503
description
2005 nî lūn-bûn
@nan
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Distinct novel mutations affec ...... legia in two Chinese families.
@ast
Distinct novel mutations affec ...... legia in two Chinese families.
@en
Distinct novel mutations affec ...... legia in two Chinese families.
@nl
type
label
Distinct novel mutations affec ...... legia in two Chinese families.
@ast
Distinct novel mutations affec ...... legia in two Chinese families.
@en
Distinct novel mutations affec ...... legia in two Chinese families.
@nl
prefLabel
Distinct novel mutations affec ...... legia in two Chinese families.
@ast
Distinct novel mutations affec ...... legia in two Chinese families.
@en
Distinct novel mutations affec ...... legia in two Chinese families.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Distinct novel mutations affec ...... legia in two Chinese families.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698