Search Results - "Landrian, Ivette"
-
1
SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure
Published in PloS one (21-08-2015)“…A large, non-coding ATTCT repeat expansion causes the neurodegenerative disorder, spinocerebellar ataxia type 10 (SCA10). In a subset of SCA10 patients,…”
Get full text
Journal Article -
2
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
Published in PloS one (19-04-2017)“…Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in…”
Get full text
Journal Article -
3
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability
Published in European journal of human genetics : EJHG (01-11-2013)“…Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder caused by a noncoding ATTCT pentanucleotide expansion. An inverse…”
Get full text
Journal Article -
4
Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry
Published in PloS one (20-11-2013)“…Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by the expansion of the non-coding ATTCT pentanucleotide repeat in…”
Get full text
Journal Article -
5
Identifying novel interruption motifs in spinocerebellar ataxia type 10 expansions
Published in Neurology and clinical neuroscience (01-03-2014)“…Background and Aim Spinocerebellar ataxia type 10 (SCA10) is caused by an expansion of a normally polymorphic ATTCT repeat within intron 9 of the ATXN10 gene…”
Get full text
Journal Article -
6
Management of Traumatically Luxated Permanent Teeth: A Retrospective Study
Published 01-01-2020“…The International Association of Dental Traumatology guidelines state that teeth must be repositioned after luxation injuries, however, the specific method of…”
Get full text
Dissertation -
7
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures
Published in Neurogenetics (01-03-2014)“…Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion…”
Get full text
Journal Article -
8
Expansion of the Spinocerebellar Ataxia Type 10
Published in PloS one (20-11-2013)“…Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by the expansion of the non-coding ATTCT pentanucleotide repeat in…”
Get full text
Journal Article -
9
Spinocerebellar ataxia type 10 in Chinese Han
Published in Neurology. Genetics (01-10-2015)“…Spinocerebellar ataxia type 10 (SCA10; OMIM #603516) is an autosomal dominant cerebellar ataxia with variably associated extracerebellar signs.(1,2) SCA10 is…”
Get full text
Journal Article -
10
SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure: e0135906
Published in PloS one (01-08-2015)“…A large, non-coding ATTCT repeat expansion causes the neurodegenerative disorder, spinocerebellar ataxia type 10 (SCA10). In a subset of SCA10 patients,…”
Get full text
Journal Article