moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

8

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Upload: independent

Post on 22-Apr-2023

0 views

Category:

Documents

0 download

Report

Download

Embed Size (px):

TRANSCRIPT

Page 1: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 2: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 3: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 4: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 5: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 6: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 7: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Page 8: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

© 1996 Nature Publishing Group http://www.nature.com/naturegenetics

Linking coordinative and executive dysfunctions to atrophy in spinocerebellar ataxia 2 patients

A 5', 8-cyclo-2'-deoxypurine lesion induces trinucleotide repeat deletion via a unique lesion bypass by DNA polymerase β

Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

Dissecting the Genetic History of S�o Tom� e Pr�ncipe: A New Window from Y-Chromosome Biallelic Markers

Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene

Detection of Numerous Y Chromosome Biallelic Polymorphisms by Denaturing High-Performance Liquid Chromatography

Length-dependent energetics of (CTG)n and (CAG)n trinucleotide repeats

A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats

A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat–containing RNA

Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes

Magnetic resonance imaging in spinocerebellar ataxias

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

Structure and Expression of the MouseL23mrpGene Downstream of the ImprintedH19Gene: Biallelic Expression and Lack of Interaction with theH19Enhancers

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Written by Wadim Kapulkin, Title : Allelic spectrum of the RNA guided CRISPR/Cas9 DNA repair events at PAM associated trinucleotide repeat (NGG)n in Caenorhabditis elegans

Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

Spinocerebellar ataxia type 2 with levodopa-responsive parkinsonism culminating in motor neuron disease

Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

Detecting Epistasis with Restricted Response Patterns in Pairs of Biallelic Loci

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans

Combined Use of Biallelic and Microsatellite Y-Chromosome Polymorphisms to Infer Affinities among African Populations

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform

Mechanism of Trinucleotide Repeats Instabilities: The Necessities

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

The solution structure of the circular trinucleotide cr(GpGpGp) determined by NMR and molecular mechanics calculation