about
Pain in Neurodegenerative Disease: Current Knowledge and Future PerspectivesR-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxiasHeterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar AtaxiaIdentification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxiaAutosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationAtaxia, dementia, and hypogonadotropism caused by disordered ubiquitinationAtaxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIPThe genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.Genes and genetic testing in hereditary ataxias.Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndromeExome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions.Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxiasPathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.Genetic contributions to self-reported tiredness.Early onset cerebellar ataxia with retained reflexes: a clinical and genetic conundrum.The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.Genetics of ataxias: hereditary forms.Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition.Biological functionalities of transglutaminase 2 and the possibility of its compensation by other members of the transglutaminase family.
P2860
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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
Recent advances in the genetics of cerebellar ataxias.
@en
type
label
Recent advances in the genetics of cerebellar ataxias.
@en
prefLabel
Recent advances in the genetics of cerebellar ataxias.
@en
P1476
Recent advances in the genetics of cerebellar ataxias.
@en
P2093
Anna Sailer
Henry Houlden
P2888
P304
P356
10.1007/S11910-012-0267-6
P577
2012-06-01T00:00:00Z
P6179
1041499715