ataxia

Results: 435



#Item
401Mdm2 / P53 / Ubiquitin ligase / Ubiquitin / Ectrodactyly–ectodermal dysplasia–cleft syndrome / Phosphorylation / Proteasome / Ataxia telangiectasia mutated / NEDD4 / Biology / Proteins / Cell biology

Regulation of p63 Protein Stability via Ubiquitin-Proteasome Pathway

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Source URL: www.ncbi.nlm.nih.gov

Language: English
402Biology / D-bifunctional protein deficiency / HSD17B4 / 3-hydroxyacyl-CoA dehydrogenase / Medical genetics / Ataxia / Mitochondrial disease / Peroxisomal disorders / Medicine / Health

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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Source URL: www.ncbi.nlm.nih.gov

Language: English
403Proteins / Ataxia telangiectasia mutated / DNA repair / Postreplication checkpoint / Ataxia telangiectasia and Rad3 related / G2 phase / Cell cycle checkpoint / Wee1 / H2AFX / Biology / Cell biology / Cell cycle

Clinical characteristics and prognosis of osteosarcoma in young children: a retrospective series of 15 cases

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Source URL: www.ncbi.nlm.nih.gov

Language: English
404Genetic genealogy / Medical genetics / Channelopathy / Rare diseases / Spinocerebellar ataxia / Machado–Joseph disease / Dentatorubral-pallidoluysian atrophy / Ataxia / ATXN2 / Health / Neurodegenerative disorders / Neurological disorders

Clinical significance of serological biomarkers and neuropsychological performances in patients with temporal lobe epilepsy

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Source URL: www.ncbi.nlm.nih.gov

Language: English
405Neurological disorders / Genetic genealogy / Spinocerebellar ataxia / Channelopathy / Machado–Joseph disease / Medical signs / Nystagmus / Ataxia / Health / Neurodegenerative disorders / Medicine

Clinical significance of serological biomarkers and neuropsychological performances in patients with temporal lobe epilepsy

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Source URL: www.ncbi.nlm.nih.gov

Language: English
406Blindness / Congenital disorder of glycosylation / Pediatrics / Optic neuropathy / Retinitis pigmentosa / Nystagmus / Glaucoma / Ataxia / Hypotonia / Health / Medicine / Ophthalmology

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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Source URL: www.ncbi.nlm.nih.gov

Language: English
407Neurodegenerative disorders / Molecular biology / Spinocerebellar ataxia / Exome sequencing / Channelopathy / Ataxia / Mutation / Compound heterozygosity / Neurogenetics / Biology / Genetics / Health

Clinical significance of serological biomarkers and neuropsychological performances in patients with temporal lobe epilepsy

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Source URL: www.ncbi.nlm.nih.gov

Language: English
408Proteins / Signal transduction / Cell signaling / Rho-associated protein kinase / GAK / Ataxia telangiectasia mutated / Platelet-derived growth factor receptor / G protein-coupled receptor / Biology / Cell biology / Protein kinases

Protein Structure and Folding: The Structure of Dimeric ROCK I Reveals the Mechanism for Ligand Selectivity

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Source URL: www.jbc.org

Language: English
409Health / Syndromes / Restless legs syndrome / Periodic limb movement disorder / Dopamine agonist / Spinocerebellar ataxia / Genetic disorder / Chromosome 1 / Amyotrophic lateral sclerosis / Brain / Sleep disorders / Central nervous system

626 REVIEW

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Source URL: www.ncbi.nlm.nih.gov

Language: English
410Anthropology / Human height / Percentile / Puberty / Bruns ataxia / Constitutional growth delay / Adolescence / Health / Medicine

The height, weight and height/weight ratio of Canadian children

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Source URL: www.ncbi.nlm.nih.gov

Language: English
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