Keywords: ALS خانوادگی; Familial ALS; Association studies; Genes; Sporadic ALS; ALS; Genetic; SALS; fALS;
مقالات ISI ALS خانوادگی (ترجمه نشده)
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Keywords: ALS خانوادگی; CD39; M1/M2 microglia; Motoneuron; Oligodendrocyte; P2X7; P2Y12; ALS; amyotrophic lateral sclerosis; BBG; Brilliant Blue G; BDNF; brain-derived neurotrophic factor; BzATP; 2â²-3â²-O-(benzoyl-benzoyl) ATP; fALS; familial ALS; FUS; fused in sarcoma; HuR
Keywords: ALS خانوادگی; Amyotrophic lateral sclerosis; ALS; Familial ALS; Genetics; Phenotypes; Genetic testing;
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Keywords: ALS خانوادگی; ALS; TBK1; FTD; WES; Familial ALS;
CHI3L1 and CHI3L2 overexpression in motor cortex and spinal cord of sALS patients
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; sALS; sporadic ALS; FALS; familial ALS; CNS; central nervous system; CHI3L1; chitinase 3 like 1; CHI3L2; chitinase 3 like 2; CLPs; chitinase-like proteins; SIVE; Simian Immunodeficiency Virus Encephalitis; TDP-43; TAR D
The relevance of contact-independent cell-to-cell transfer of TDP-43 and SOD1 in amyotrophic lateral sclerosis
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; CFTR; cystic fibrosis transmembrane conductance regulator; CNS; central nervous system; CSF; cerebrospinal fluid; fALS; familial ALS; FTLD; frontotemporal lobar degeneration; LMN; lower motor neurons; sALS; sporadic ALS
Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis
Keywords: ALS خانوادگی; AAV; Adeno-associated viruses; ATP; Adenosine Triphosphate; ALS-FTD; ALS combined with frontotemporal dementia; ALS; Amyotrophic lateral sclerosis; ALSoD; Amyotrophic lateral sclerosis online database; C9orf72; Chromosome 9 open reading frame 72; ERGIC; E
Sporadic and hereditary amyotrophic lateral sclerosis (ALS)
Keywords: ALS خانوادگی; Sporadic ALS; Familial ALS; Paradigm shift; Pathogenesis;
Trehalose decreases mutant SOD1 expression and alleviates motor deficiency in early but not end-stage amyotrophic lateral sclerosis in a SOD1-G93A mouse model
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; fALS; familial ALS; HD; Huntington disease; HspB8; heat shock protein B8; LBHI; Lewy body-like inclusions; mTOR; mammalian target of rapamycin; PBS; phosphate-buffered saline; PD; Parkinson disease; SD; standard deviati
Quelle place pour l'enquête familiale dans la sclérose latérale amyotrophique ?
Keywords: ALS خانوادگی; SLA familiale; Conseil génétique; Oligogénisme; Familial ALS; Genetic counseling; Oligogeny;
Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis
Keywords: ALS خانوادگی; Motor neuron disease; Amyotrophic lateral sclerosis; Familial ALS; Genetic analysis; CREST; OPTN; Double mutant;
ReviewFocality, stochasticity and neuroanatomic propagation in ALS pathogenesis
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; FALS; familial ALS; FTD; frontotemporal dementia; LMN; lower motor neuron; PLS; primary lateral sclerosis; PMA; progressive muscular atrophy; SALS; sporadic ALS; UMN; upper motor neuron; ALS; PLS; PMA; Motor neuron dise
Altered miRNA expression is associated with neuronal fate in G93A-SOD1 ependymal stem progenitor cells
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; Ccnd2; cyclin D2; Dlx2; distal-less homeobox 2; epSPCs; ependymal stem/progenitor cells; FALS; familial ALS; GAD 67; glutamic acid decarboxylase 67; GFAP; glial fibrillary acidic protein; Hes1; hairy and enhancer of spl
Proteomic analysis of FUS interacting proteins provides insights into FUS function and its role in ALS
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; fALS; familial ALS; sALS; sporadic ALS; 293T; human embryonic kidney (HEK293T) cells; FUS/TLS; Fused in Sarcoma/Translocated in Liposarcoma; GST; glutathione S-transferase; RIPA; radioimmunoprecipitation assay buffer; S
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
Keywords: ALS خانوادگی; Familial ALS; Optineurin; Glaucoma; Retinal degeneration; Truncating mutation;
Galactooligosaccharide improves the animal survival and alleviates motor neuron death in SOD1G93A mouse model of amyotrophic lateral sclerosis
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; ELISA; Enzyme-linked immunosorbent assay; fALS; familial ALS; GOS; galactooligosacchrides; Hcy; homocysteine; HRP; horseradish peroxidase; iNOS; inducible nitric oxide synthase; MGT; Modified Gomori Trichrome; NADH; nic
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
Keywords: ALS خانوادگی; Amyotrophic lateral sclerosis; Motor neuron disease; Familial ALS; Genetics; VAPB; C9orf72;
Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese
Keywords: ALS خانوادگی; ALS; Sporadic ALS; Familial ALS; TDP-43; TARDBP mutation; Mutational frequency; Single-nucleotide polymorphism;
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
Keywords: ALS خانوادگی; Amyotrophic lateral sclerosis; Motor neuron disease; Familial ALS; Genetics; Optineurin; Mutations;
ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; FTD; fronto-temporal dementia; NPH; normal pressure hydrocephalus; PBP; progressive bulbar palsy; SBMA; spinobulbar muscular atrophy; SALS; sporadic ALS; FALS; familial ALS; wt; wild-type SOD1 genotype; ALSFRS; ALS Funt
Correlation of cerebral spinal fluid pH and HCO3- with disease progression in ALS
Keywords: ALS خانوادگی; ALS; amyotrophic lateral sclerosis; ALSFRS-R; ALS functional rating scale; CBD; corticobasal degeneration; CCA; cortical cerebellar atrophy; CS; cervical spondylosis; CSF; cerebrospinal fluid; DRPLA; dentatorubral-pallidoluysian atrophy; FALS; familial AL
Neurodegeneration, Neuroprotection, and Disease-Oriented NeuroscienceResearch PaperMetallothionein-III prevents neuronal death and prolongs life span in amyotrophic lateral sclerosis model mice
Keywords: ALS خانوادگی; metallothionein-III; growth inhibitory factor; amyotrophic lateral sclerosis; motor neuron; Cu/Zn superoxide dismutase; G93A; ALS; amyotrophic lateral sclerosis; ANOVA; analysis of variance; FALS; familial ALS; G93A; glycine at the position of No. 93 subs
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene
Keywords: ALS خانوادگی; Amyotrophic Lateral Sclerosis; Familial ALS; Superoxide dismutase 1 (SOD1) gene; Mutation; Protein structural modelling;
Corticomotoneuronal function in asymptomatic SOD-1 mutation carriers
Keywords: ALS خانوادگی; Diffusion tensor tractography; Familial ALS; SOD-1 mutation carrier
Time-course and characterization of orolingual motor deficits in B6SJL-Tg(SOD1-G93A)1Gur/J mice
Keywords: ALS خانوادگی; familial ALS; G1H; bulbar; tongue; operant behavioral task; grip strengthALS, amyotrophic lateral sclerosis; fALS, familial amyotrophic lateral sclerosis; RM ANOVA, repeated measures analysis of variance; SOD1, superoxide-dismutase 1; SOD1-G93A, B6SJL-Tg(
Lost in translation: Treatment trials in the SOD1 mouse and in human ALS
Keywords: ALS خانوادگی; SOD1 mouse; Meta-analysis; Familial ALS; G93A; Treatment trials; Systematic review; Amyotrophic lateral sclerosis; Motor neuron disease; Mouse model; Animal model
Contenu et modalités de l'annonce du diagnostic de SLA dans un contexte familial
Keywords: ALS خانوادگی; SLA familiale; Annonce diagnostic; Diagnostic génétique; Familial ALS; Diagnosis; Announcement; Genetic testing;