Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Pendular nystagmus; Gaze; Vibration;
مقالات ISI پاراپلژی اسپاستیک ارثی (ترجمه نشده)
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Keywords: پاراپلژی اسپاستیک ارثی; Cerebrotendinous xanthomatosis; Diagnosis; Hereditary spastic paraplegia; HSP; Next-generation sequencing; SPG;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Spastic ataxia; Neurogenetics; Spasticity;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Spastic paraplegia; Spastin; SPAST; SPG4; SPG7; Ethnic distribution;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Gait; Walking; Longitudinal study; Evolution
Keywords: پاراپلژی اسپاستیک ارثی; Baclofen; Case reports; Injections, spinal; Muscle spasticity; Rehabilitation; Spastic paraplegia, hereditary; HSP; hereditary spastic paraplegia; ITB; intrathecal baclofen; PGIC; Patient Global Impression of Change;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; SPAST; Mutation; MLPA;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraparesis; Hereditary spastic paraplegia; Biomechanics; Hydrotherapy;
Keywords: پاراپلژی اسپاستیک ارثی; 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-
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Spastic diplegia; Cerebral palsy; Clinical gait analysis; Opto-electronic system; Lower and upper limbs; Angular amplitude; Angular velocity;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Animal model; Heat shock protein; Mitochondrial dysfunction; Neurodegenerative disorders;
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; SPG28; DDHD1; Mitochondrial disease
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; CYP2U1; SPG56; Complicated; Dystonia; Regression
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Keywords: پاراپلژی اسپاستیک ارثی; KIF1C; Hereditary spastic paraplegia; Ataxia; Kinesin;
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
Keywords: پاراپلژی اسپاستیک ارثی; ACE-R; Addenbrooke's Cognitive Examination Revised; ALS; amyotrophic lateral sclerosis; CA; cord area; CE; cord eccentricity; CMAP; compound muscle action potential; CST; corticospinal tract; DTI; diffusion tensor imaging; FA; fractional anisotropy; GM; g
ESCRT genes and regulation of developmental signaling
Keywords: پاراپلژی اسپاستیک ارثی; ABA; abscisic acid; AUX1; AUXIN-RESISTANT1; CHMP; charged multivesicular body protein; Crb; crumbs; DSL; delta/serrate/lag-2; Dx; Deltex; Dome; domeless; Dpp; decapentaplegic; EGFR; epidermal growth factor receptor; ESCRT; endosomal sorting complex requir
Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Spastin; Missense mutation; ATPase activity; Axonal abnormality; Gene therapy;
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
Keywords: پاراپلژی اسپاستیک ارثی; DDHD1; Hereditary spastic paraplegia; Retinopathy; Phospholipids; NBIA;
Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression
Keywords: پاراپلژی اسپاستیک ارثی; MRI; magnetic resonance imaging; DTI; diffusion tensor imaging; CC; corpus callosum; RD; radial diffusivity; FA; fractional anisotropy; ARHSP-TCC; autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum; CNS; central nervous
New insights into the phenotype of FARS2 deficiency
Keywords: پاراپلژی اسپاستیک ارثی; FARS2; Mitochondria; Mitochondrial aminoacyl-tRNA synthetase; Early-onset epileptic encephalopathy; Hereditary spastic paraplegia; Neurogenic bladder;
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia
Keywords: پاراپلژی اسپاستیک ارثی; Epilepsy; Spasticity; Hereditary spastic paraplegia; GLUT1 deficiency syndrome; SLC2A1;
Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis
Keywords: پاراپلژی اسپاستیک ارثی; HSP; hereditary spastic paraplegia; SPG10; spastic paraplegia type 10; KIF5A; kinesin family member 5A; ALS; amyotrophic lateral sclerosis; Hereditary spastic paraplegia; SPG10; Whole exome sequencing; Dysarthria; Fasciculation; Elderly asymptomatic carri
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; CYP7B1; PNPLA6; C19orf12; Mutational analysis;
Carnitine palmitoyltransferase 1C: From cognition to cancer
Keywords: پاراپلژی اسپاستیک ارثی; ACC; acetyl-CoA carboxylase; ACO; aconitase; AICAR; 5-aminoimidazole-4-1-b-d-ribofuranoside; AMPK; AMP-dependent protein kinase; Arc; Arcuate; BSX; brain-specific homeobox; cAMP; cyclic AMP; CNS; central nervous system; COT; carnitine octanoyltransferase;
The clinical manifestations of two novel SPAST mutations
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; SPAST; Genetics;
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Targeted NGS; Thin corpus callosum; Diagnosis; SPG11
Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes
Keywords: پاراپلژی اسپاستیک ارثی; Ataxia; Exome sequencing; Hereditary spastic paraplegia; SPG11; Thin corpus callosum
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Microarray; 3q28-q29; Run of homozygosity; SPG14; Autosomal recessive; Neurodegenerative disorder;
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: پاراپلژی اسپاستیک ارثی; 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
Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation
Keywords: پاراپلژی اسپاستیک ارثی; 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
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; SPAST; ATL1; Pathogenic variants; Sequencing; Gene;
The shifting paradigm of Charcot-Marie-Tooth disease
Keywords: پاراپلژی اسپاستیک ارثی; Charcot-Marie-Tooth disease; Hereditary polyneuropathy; Maladie de Charcot-Marie-Tooth; Polyneuropathie héréditaire; AD; autosomal dominant; AR; autosomal recessive; CMT; Charcot-Marie-Tooth disease; CMT1; autosomal dominant demyelinating CMT; CMT2; aut
Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Genetic heterogeneity; Clinical variability; Diagnosis; Paraplégies spastiques héréditaires; Hétérogénéité génétique; Variabilité phénotypique; Diagnostic;
Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Thin corpus callosum; SPG11; Mutation; Cerebella hypometabolism;
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; SPG4; SPAST; Somatic mosaicism; Genetic testing; De novo mutation;
Cortical involvement in the StartReact effect
Keywords: پاراپلژی اسپاستیک ارثی; AG1; first agonist; CV; consonant-vowel; EMG; electromyographic; ECR; extensor carpi radialis longus; FCR; flexor carpi radialis; HSP; hereditary spastic paraplegia; IS; imperative stimulus; nRPC; nucleus reticularis pontis caudalis; PMTs; premotor reac
Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia
Keywords: پاراپلژی اسپاستیک ارثی; ATL1; Dysautonomia; Hereditary spastic paraplegia;
Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Thin corpus callosum; SPG11; Diffusion tensor imaging; Neuropsychological assessment;
Neuropathy target esterase (NTE): overview and future
Keywords: پاراپلژی اسپاستیک ارثی; AChE; acetylcholinesterase; CBDP; 2-(ortho-cresyl)-4H-1,2,3-benzodioxaphosphoran-2-one; DFP; diisopropylphosphorofluoridate; HSP; hereditary spastic paraplegia; mipafox; N,Nâ²-diisopropylphosphorodiamidic fluoride; NRE; NTE-related esterase (PNPLA7); NTE
The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function
Keywords: پاراپلژی اسپاستیک ارثی; WASH complex; Retromer; Strumpellin; Hereditary spastic paraplegia; Axon degeneration; Sorting nexin;
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia
Keywords: پاراپلژی اسپاستیک ارثی; Whole-exome sequencing; ABCD1 gene; Hereditary spastic paraplegia; Genetic heterogeneity
A diagnostic gene chip for hereditary spastic paraplegias
Keywords: پاراپلژی اسپاستیک ارثی; Gene chip; Gene diagnosis; Hereditary spastic paraplegia; Single-nucleotide polymorphisms
Untangling the web: Mechanisms underlying ER network formation
Keywords: پاراپلژی اسپاستیک ارثی; Atlastin; Endoplasmic reticulum; Hereditary spastic paraplegia; Morphology; REEP; Reticulon
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking
Keywords: پاراپلژی اسپاستیک ارثی; BMP pathway; Atlastin-1; Hereditary spastic paraplegia; BMPRII trafficking
The C-terminal α-helix of SPAS-1, a Caenorhabditis elegans spastin homologue, is crucial for microtubule severing
Keywords: پاراپلژی اسپاستیک ارثی; AAA ATPase; Caenorhabditis elegans; Chaperone; Hereditary spastic paraplegia; Microtubule; Spastin;
Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia
Keywords: پاراپلژی اسپاستیک ارثی; hereditary spastic paraplegia; multiplex ligation-dependent probe amplification; SPG4; spastin
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation – A neurophysiological study using excitability techniques
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Spastin; Sensory dysfunction; Axonal excitability; Threshold electrotonus; Nerve conduction; Peripheral neuropathy
The AAA ATPase spastin links microtubule severing to membrane modelling
Keywords: پاراپلژی اسپاستیک ارثی; Cytokinesis; Endoplasmic reticulum morphogenesis; Axonopathy; ESCRT complex; Hairpin hydrophobic domain; Hereditary spastic paraplegia;
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Keywords: پاراپلژی اسپاستیک ارثی; 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;
A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum
Keywords: پاراپلژی اسپاستیک ارثی; Hereditary spastic paraplegia; Thin corpus callosum; White matter; Locus