Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.
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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxiaELOVL5 mutations cause spinocerebellar ataxia 38Current understanding of the role of microRNAs in spinocerebellar ataxiasAtaxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse modelAtaxia.A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaA KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity.Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.Diffusion tensor imaging of spinocerebellar ataxia type 12.Stabilization and Degradation Mechanisms of Cytoplasmic Ataxin-1.Computational neurobiology is a useful tool in translational neurology: the example of ataxiaThe mutant Moonwalker TRPC3 channel links calcium signaling to lipid metabolism in the developing cerebellum.Friedreich ataxia in Norway - an epidemiological, molecular and clinical studyMolecular dynamics analysis of the aggregation propensity of polyglutamine segmentsMutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch.The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.Nanoparticulate strategies for the treatment of polyglutamine diseases by halting the protein aggregation process.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Ataxia in children: early recognition and clinical evaluation.Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical ApplicationsGene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2.Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.Rare Neurodegenerative Diseases: Clinical and Genetic Update.Effects of the enlargement of polyglutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins.Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia.Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration
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P2860
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on April 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Consensus paper: pathological ...... on in spinocerebellar ataxias.
@en
Consensus paper: pathological ...... on in spinocerebellar ataxias.
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type
label
Consensus paper: pathological ...... on in spinocerebellar ataxias.
@en
Consensus paper: pathological ...... on in spinocerebellar ataxias.
@nl
prefLabel
Consensus paper: pathological ...... on in spinocerebellar ataxias.
@en
Consensus paper: pathological ...... on in spinocerebellar ataxias.
@nl
P2093
P2860
P50
P1433
P1476
Consensus paper: pathological ...... on in spinocerebellar ataxias.
@en
P2093
B R Underwood
D C Rubinsztein
D R Scoles
K N McFarland
M Pandolfo
T Ashizawa
P2860
P2888
P304
P356
10.1007/S12311-013-0539-Y
P577
2014-04-01T00:00:00Z