(Q48378126)

11 February 2018

title

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion (English)

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11 February 2018

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8

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11 February 2018

Xandra O. Breakefield

9

object named as

Xandra O Breakefield

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11 February 2018

Laurie Ozelius

6

object named as

Laurie J Ozelius

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11 February 2018

author name string

Kevin Rostasy

1

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11 February 2018

Sarah J Augood

2

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11 February 2018

Jeffrey W Hewett

3

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11 February 2018

Joanne Chung-on Leung

4

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11 February 2018

Hikaru Sasaki

5

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11 February 2018

Vijaya Ramesh

7

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11 February 2018

John C Hedreen

10

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11 February 2018

publication date

1 February 2003

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11 February 2018

published in

Neurobiology of Disease

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11 February 2018

volume

12

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11 February 2018

issue

1

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11 February 2018

page(s)

11-24

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11 February 2018

The dynein heavy chain: structure, mechanics and evolution

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TorsinA: movement at many levels

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Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

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Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

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A 200‐amino acid ATPase module in search of a basic function

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Dystonia and its disorders

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Spread of symptoms in idiopathic torsion dystonia

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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

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Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

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Cellular distribution of torsin A and torsin B in normal human brain

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D2 receptor binding in dopa-responsive dystonia

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Soma size of substantia nigra neurons increases after a prenatal neocortical lesion in cats.

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Neuronal hypertrophy in the pars reticulata of the substantia nigra in Parkinson's disease

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Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells

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Human gene for torsion dystonia located on chromosome 9q32-q34.

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

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The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

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Bilateral morphological changes in the substantia nigra of the rat following unilateral damage of the striatum

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Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models.

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7 January 2021

Dopa-responsive dystonia: pathological and biochemical observations in a case

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7 January 2021

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

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7 January 2021

A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study

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7 January 2021

Immunohistochemical localization and distribution of torsinA in normal human and rat brain

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7 January 2021

TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease

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7 January 2021

"Fatal attractions" of proteins. A comprehensive hypothetical mechanism underlying Alzheimer's disease and other neurodegenerative disorders.

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7 January 2021

Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain

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7 January 2021

TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

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7 January 2021

Pathology in brainstem regions of individuals with primary dystonia

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7 January 2021

10.1016/S0969-9961(02)00010-4

Identifiers

DOI

1 reference

11 February 2018

1 reference

11 February 2018