A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration (Q43962617)

28 November 2017

title

A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration (English)

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28 November 2017

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Christian Lavedan

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28 November 2017

Stephanie Buchholtz

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28 November 2017

Robert L Nussbaum

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28 November 2017

Roger L Albin

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28 November 2017

Mihael H Polymeropoulos

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28 November 2017

language of work or name

English

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publication date

1 March 2002

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28 November 2017

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28 November 2017

volume

322

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28 November 2017

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28 November 2017

page(s)

57-61

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Neurofilament reassembly in vitro: biochemical, morphological and immuno-electron microscopic studies employing monoclonal antibodies to defined epitopes

28 November 2017

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Monoclonal antibodies to purified cortical Lewy bodies recognize the mid-size neurofilament subunit

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

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Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

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A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

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7 January 2021

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease

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7 January 2021

The ubiquitin pathway in Parkinson's disease

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7 January 2021

The importance of intramolecular ion pairing in intermediate filaments

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Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

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Alpha synuclein in neurodegenerative disorders: murderer or accomplice?

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7 January 2021

The regulation of neurofilament protein dynamics by phosphorylation: clues to neurofibrillary pathobiology

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Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

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7 January 2021

α-Synuclein in Lewy bodies

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7 January 2021

Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease

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7 January 2021

10.1016/S0304-3940(01)02513-7

Identifiers

DOI

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28 November 2017

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