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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03010887v1

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

About this item

Full title

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Publisher

Berlin/Heidelberg: Springer-Verlag

Journal title

Acta neuropathologica, 2013-04, Vol.125 (4), p.511-522

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer-Verlag

More information

Scope and Contents

Contents

Mutations in
SQSTM1
encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis (ALS). p62 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. We sequenced
SQSTM1
in 90 French patients with familial ALS (FALS) and 74 autops...

Alternative Titles

Full title

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_03010887v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03010887v1

Other Identifiers

ISSN

0001-6322

E-ISSN

1432-0533

DOI

10.1007/s00401-013-1090-0

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