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Gene, Stem Cell, and Alternative Therapies for SCA 1More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia SyndromesEmbryonic stages in cerebellar afferent developmentAutosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationA KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.Too many numbers and complexity: time to update the classifications of neurogenetic disorders?Altered Actions of Memantine and NMDA-Induced Currents in a New Grid2-Deleted Mouse Line.Exome sequencing in undiagnosed inherited and sporadic ataxiasAn atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.Hereditary Cerebellar Ataxias: A Korean Perspective.The merit of proton magnetic resonance spectroscopy in the longitudinal assessment of spinocerebellar ataxias and multiple system atrophy-cerebellar type.Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.Pancreatic cancer: current understanding of molecular and genetic aetiologies.A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).DAPK1 Signaling Pathways in Stroke: from Mechanisms to TherapiesDNA repair and mutations during quiescence in yeast.Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.Progressive ataxia due to alpha-tocopherol deficiency in PakistanComparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene.Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation).Repetitive blast exposure in mice and combat veterans causes persistent cerebellar dysfunction.Genetics: Utility of next-generation sequencing in ataxias.Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene.Rubicon: LC3-associated phagocytosis and beyond.Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment.Transplantation of Human Neural Progenitor Cells Reveals Structural and Functional Improvements in the Spastic Han-Wistar Rat Model of Ataxia.Rare Neurodegenerative Diseases: Clinical and Genetic Update.Piperine ameliorates SCA17 neuropathology by reducing ER stress.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Hereditary ataxias: overview.
@en
type
label
Hereditary ataxias: overview.
@en
prefLabel
Hereditary ataxias: overview.
@en
P2860
P356
P1433
P1476
Hereditary ataxias: overview.
@en
P2093
Thomas D Bird
P2860
P2888
P304
P356
10.1038/GIM.2013.28
P407
P577
2013-03-28T00:00:00Z