Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

Emma L. Clayton; Sarah Mizielinska; James R. Edgar; Troels Tolstrup Nielsen; Sarah Marshall; Frances E. Norona; Miranda Robbins; Hana Damirji; Ida E. Holm; Peter Johannsen; Jorgen E. Nielsen; Emmanuel A. Asante; John Collinge; Adrian M. Isaacs

doi:10.1007/s00401-015-1475-3

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

Emma L. Clayton, Sarah Mizielinska, James R. Edgar, Troels Tolstrup Nielsen, Sarah Marshall, Frances E. Norona, Miranda Robbins, Hana Damirji, Ida E. Holm, Peter Johannsen, Jorgen E. Nielsen, Emmanuel A. Asante, John Collinge, Adrian M. Isaacs

Medical Genetics Program

46 Citations (Scopus)

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Original language	English
Journal	Acta Neuropathologica
Volume	130
Issue number	4
Pages (from-to)	511-523
Number of pages	13
ISSN	0001-6322
DOIs	https://doi.org/10.1007/s00401-015-1475-3
Publication status	Published - 26 Oct 2015

Keywords

CHMP2B
FTD
ESCRT
Lysosome
Lysosomal storage disorder

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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s00401-015-1475-3Final published version, 10.9 MBLicence: CC BY

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Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., Johannsen, P., Nielsen, J. E., Asante, E. A., Collinge, J., & Isaacs, A. M. (2015). Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. Acta Neuropathologica, 130(4), 511-523. https://doi.org/10.1007/s00401-015-1475-3

Clayton, EL, Mizielinska, S, Edgar, JR, Nielsen, TT, Marshall, S, Norona, FE, Robbins, M, Damirji, H, Holm, IE, Johannsen, P, Nielsen, JE, Asante, EA, Collinge, J & Isaacs, AM 2015, 'Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology', Acta Neuropathologica, vol. 130, no. 4, pp. 511-523. https://doi.org/10.1007/s00401-015-1475-3

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title = "Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology",

keywords = "CHMP2B, FTD, ESCRT, Lysosome, Lysosomal storage disorder",

author = "Clayton, {Emma L.} and Sarah Mizielinska and Edgar, {James R.} and Nielsen, {Troels Tolstrup} and Sarah Marshall and Norona, {Frances E.} and Miranda Robbins and Hana Damirji and Holm, {Ida E.} and Peter Johannsen and Nielsen, {Jorgen E.} and Asante, {Emmanuel A.} and John Collinge and Isaacs, {Adrian M.}",

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T1 - Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

AU - Clayton, Emma L.

AU - Mizielinska, Sarah

AU - Edgar, James R.

AU - Nielsen, Troels Tolstrup

AU - Marshall, Sarah

AU - Norona, Frances E.

AU - Robbins, Miranda

AU - Damirji, Hana

AU - Holm, Ida E.

AU - Johannsen, Peter

AU - Nielsen, Jorgen E.

AU - Asante, Emmanuel A.

AU - Collinge, John

AU - Isaacs, Adrian M.

PY - 2015/10/26

Y1 - 2015/10/26

KW - CHMP2B

KW - FTD

KW - ESCRT

KW - Lysosome

KW - Lysosomal storage disorder

U2 - 10.1007/s00401-015-1475-3

DO - 10.1007/s00401-015-1475-3

M3 - Journal article

C2 - 26358247

SN - 0001-6322

VL - 130

SP - 511

EP - 523

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 4

ER -

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

Keywords

UN SDGs

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