4.7 Article

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

Yingxiao Shi et al.

NATURE MEDICINE (2018)

Editorial Material Neurosciences

Nuclear pores: the gate to neurodegeneration

Nan Li et al.

NATURE NEUROSCIENCE (2018)

Article Clinical Neurology

Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism

Henrike Hanssen et al.

BRAIN (2018)

Article Clinical Neurology

Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression

N. Brueggemann et al.

EUROPEAN JOURNAL OF NEUROLOGY (2017)

Article Multidisciplinary Sciences

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

D. Cristopher Bragg et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Multidisciplinary Sciences

Age-related penetrance of the C9orf72 repeat expansion

Natalie A. Murphy et al.

SCIENTIFIC REPORTS (2017)

Review Cell Biology

RNA toxicity and foci formation in microsatellite expansion diseases

Nan Zhang et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2017)

Article Biochemistry & Molecular Biology

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

Aloysius Domingo et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2016)

Article Clinical Neurology

Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism

Norbert Brueggemann et al.

PARKINSONISM & RELATED DISORDERS (2016)

Article Biochemistry & Molecular Biology

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

Aloysius Domingo et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Sophie Tezenas du Montcel et al.

BRAIN (2014)

Review Biochemistry & Molecular Biology

Repeat-associated non-ATG (RAN) translation in neurological disease

John D. Cleary et al.

HUMAN MOLECULAR GENETICS (2013)

Article Clinical Neurology

X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

Ana Westenberger et al.

MOVEMENT DISORDERS (2013)

Review Clinical Neurology

Dopa-Responsive Dystonia Revisited Diagnostic Delay, Residual Signs, and Nonmotor Signs

Vera Tadic et al.

ARCHIVES OF NEUROLOGY (2012)

Article Clinical Neurology

The Motor Phenotype of Parkinson's Disease in Relation to Age at Onset

Mirdhu M. Wickremaratchi et al.

MOVEMENT DISORDERS (2011)

Article Neurosciences

The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, “Lubag”)

Lillian V. Lee et al.

INTERNATIONAL JOURNAL OF NEUROSCIENCE (2010)

Review Genetics & Heredity

Mechanisms of trinucleotide repeat instability during human development

Cynthia T. McMurray

NATURE REVIEWS GENETICS (2010)

Article Genetics & Heredity

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

Satoshi Makino et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Review Genetics & Heredity

Repeat instability: Mechanisms of dynamic mutations

CE Pearson et al.

NATURE REVIEWS GENETICS (2005)

Article Multidisciplinary Sciences

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

D Nolte et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)