Keywords: پاراپلژی اسپاستیک; Spastic paraplegia; SPG; Motor neuron disease; Amyotrophic lateral sclerosis; Neurodegeneration; Motor neuron;
مقالات ISI پاراپلژی اسپاستیک (ترجمه نشده)
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Keywords: پاراپلژی اسپاستیک; Plasma membrane Ca2+ pumps; Pump isoforms; PMCA mutations; Genetic deafness; Cerebellar ataxia; Spastic paraplegia;
Keywords: پاراپلژی اسپاستیک; Hereditary spastic paraplegia; Spastic paraplegia; Spastin; SPAST; SPG4; SPG7; Ethnic distribution;
Keywords: پاراپلژی اسپاستیک; Classification; Charcot-Marie-Tooth; HSAN; Spastic paraplegia; Cerebellar ataxia;
Keywords: پاراپلژی اسپاستیک; Myelopathy; Biotinidase; Biotinidase deficiency; Biotin-responsive; Spinal disorder; Spastic paraplegia; Spastic tetraplegia; Vision loss; Scotoma;
Keywords: پاراپلژی اسپاستیک; AAA; ATPase associated with diverse cellular activities; Clp; caseinolytic protease; CoQ; coenzyme Q; HIF; hypoxia-inducible factor; HSP; heat shock protein; IMP; inner membrane peptidase; MIP; mitochondrial intermediate peptidase; MPP; mitochondrial proc
Keywords: پاراپلژی اسپاستیک; atlastin 1; spastic paraplegia; pseudobulbar palsy; axonal neuropathy
Next generation sequencing for rapid diagnosis of a rare early onset spastic paraplegia: A novel pathological variant in FA2H gene
Keywords: پاراپلژی اسپاستیک; Next generation sequencing; FA2H; Pathological variant; Spastic paraplegia; Secuenciación de nueva generación; FA2H; Variante patológica; Paraparesia espástica;
Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia
Keywords: پاراپلژی اسپاستیک; Spinal output; Corticospinal tract; Spastic paraplegia; Gait; Electromyography;
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: پاراپلژی اسپاستیک; SPAST; Spastic paraplegia 4; Autosomal dominant (SPG4); Spastic paraplegia; Hereditary (HPS); Mosaic; Whole exome sequencing (WES);
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
Keywords: پاراپلژی اسپاستیک; Glucosylceramide; Spastic paraplegia; Cerebellar ataxia; Miglustat; GBA2; Enzyme activity; SPG46; Cer; ceramide; GBA; glucocerebrosidase; GBA2; β-glucosidase 2; Glc; glucose; GlcCer; glucosylceramide; NB-DGJ; N-butyldeoxygalactonojirimycin; NB-DNJ; N-but
Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation
Keywords: پاراپلژی اسپاستیک; HSP; hereditary spastic paraplegia; SPG11; spastic paraplegia type 11; MRI; magnetic resonance imaging; NGS; next-generation sequencing; SSD; splice site donor; WES; whole exome sequencing; NMD; nonsense-mediated mRNA decay; Spastic paraplegia; SPG11; Who
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
Keywords: پاراپلژی اسپاستیک; Spastic paraplegia; Sensory neuropathy; Intention tremor; KIF5A; Motor domain;
Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort
Keywords: پاراپلژی اسپاستیک; Sjögren–Larsson syndrome; ALDH3A2; Fatty aldehyde dehydrogenase; Ichthyosis; Mental retardation; Spastic paraplegia
Correlation of cerebral spinal fluid pH and HCO3- with disease progression in ALS
Keywords: پاراپلژی اسپاستیک; 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
Management of generalized spasticity of lower limbs by selective posterior rhizotomy
Keywords: پاراپلژی اسپاستیک; Spastic paraplegia; Microsurgical DREZotomy; Selective posterior rhizotomy
Potent suppression of stretch reflex activity after systemic or spinal delivery of tizanidine in rats with spinal ischemia-induced chronic spastic paraplegia
Keywords: پاراپلژی اسپاستیک; spastic paraplegia; stretch reflex activity; AR; adrenoreceptors; ARC; ARC239; Ati; atipamezole; BRL; BRL44408; Efa; efaroxan; EMG; electromyography; I; imidazoline; Ida; idazoxan; IT; intrathecally; SRA; stretch reflex activity; Tiz; tizanidine; Yoh; yoh
Les paraparésies spastiques héréditaires
Keywords: پاراپلژی اسپاستیک; Paraparésies spastiques; Hétérogénéité clinique et génétique; SPG4; SPG3; SPG11; Transport axonal; Spastic paraplegia; Clinical and genetic heterogeneity; SPG4; SPG3; SPG11; Axonal transport;
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
Keywords: پاراپلژی اسپاستیک; White matter; Spastic paraplegia; Mutation; HRM; SPG5;
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
Keywords: پاراپلژی اسپاستیک; Spastic paraplegia; HSP; ZFYVE26; SPG15; TCC;
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
Keywords: پاراپلژی اسپاستیک; Spastic paraplegia; SPG11; Thin corpus callosum; Mental retardation
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
Keywords: پاراپلژی اسپاستیک; Spastic paraplegia; Spastin; Endoplasmic reticulum; Spinal cord; Motor neurons; HEK293 cells; Cortical neurons; Brefeldin A
Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease
Keywords: پاراپلژی اسپاستیک; Pelizaeus-Merzbacher disease; proteolipid protein; intracellular trafficking; unfolded protein response; BiP; 78-kDa glucose regulated protein/immunoglobulin heavy chain binding protein; CFTR; cystic fibrosis transmembrane conductance regulator; DYT1 dyst
Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA
Keywords: پاراپلژی اسپاستیک; Pelizaeus-Merzbacher disease; PLP1 gene; splice mutation; CT; computed tomography; ER; endoplasmatic reticulum; MRI; magnetic resonance imaging; PLP1; proteolipid protein gene; PMD; Pelizaeus-Merzbacher disease; SPG; spastic paraplegia; SSCP; single stran