Keywords: Hereditary spastic paraplegia; Spastic paraplegia; Spastin; SPAST; SPG4; SPG7; Ethnic distribution;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Hereditary spastic paraplegia; SPAST; Mutation; MLPA;
Keywords: ACP33; Maspardin gene; AD; Autosomal dominant; AP4B1; Adaptor-related protein complex 4, epsilon 1 subunit gene; AP4M1; Adaptor-related protein complex 4, Mu 1 subunit gene; AP4E1; Adaptor-related protein complex 4, Epsilon 1 subunit gene; AP4S1; Adaptor-
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
Keywords: Spastic paraplegia type 4 (SPG4); SPAST; Splice site donor variant; Nonsense-Mediated mRNA Decay (NMD); Phenotype variability;
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
Keywords: SPAST; Spastic paraplegia 4; Autosomal dominant (SPG4); Spastic paraplegia; Hereditary (HPS); Mosaic; Whole exome sequencing (WES);
The clinical manifestations of two novel SPAST mutations
Keywords: Hereditary spastic paraplegia; SPAST; Genetics;
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
Keywords: AAA; ATP-ase associated with diverse activities; AD; autosomal dominant; ER; endoplasmic reticulum; HSP; hereditary spastic paraplegia; MIT; microtubule interacting and trafficking domain; MLPA; multiplex ligation-dependent probe amplification; MSA; multi
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia
Keywords: Hereditary spastic paraplegia; SPAST; ATL1; Pathogenic variants; Sequencing; Gene;
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Keywords: Hereditary spastic paraplegia; SPG4; SPAST; Somatic mosaicism; Genetic testing; De novo mutation;
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Keywords: ACP33; Maspardin gene; AD; Autosomal dominant; ALS; Amyotrophic lateral sclerosis; AP; Adaptor Protein complex; AR; Autosomal recessive; ATL1; Atlastin-1 gene; BMP; Bone morphogenic protein; BSCL2; Berardinelli-Seip congenital lipodystrophy gene; CYP7B1;
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
Keywords: Hereditary spastic paraplegia; HSP; SPAST; SPG3A; HSPD1; SPG4; SPG13;