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A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

Nature reviews. Neuroscience, 2015-09, Vol.16 (9), p.564-574

2015

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Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Brain (London, England : 1878), 2013-08, Vol.136 (Pt 8), p.2342-2358

2013

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Acta neuropathologica, 2013-09, Vol.126 (3), p.401-409

2013

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SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments

Mammalian genome, 2011-08, Vol.22 (7-8), p.420-448

2011

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Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome

PloS one, 2022-05, Vol.17 (5), p.e0262558-e0262558

2022

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Genetic analysis of the cytoplasmic dynein subunit families

PLoS computational biology, 2006-01, Vol.2 (1), p.e1-e1

2006

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Correlation of clinical and molecular features in spinal bulbar muscular atrophy

Neurology, 2014-06, Vol.82 (23), p.2077-2084

2014

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Down syndrome—recent progress and future prospects

Human molecular genetics, 2009-04, Vol.18 (R1), p.R75-R83

2009

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Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes

Science (American Association for the Advancement of Science), 2005-09, Vol.309 (5743), p.2033-2037

2005

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Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration

PLoS genetics, 2018-05, Vol.14 (5), p.e1007383-e1007383

2018

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Humanising the mouse genome piece by piece

Nature communications, 2019-04, Vol.10 (1), p.1845-1845, Article 1845

2019

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Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Human molecular genetics, 2010-06, Vol.19 (11), p.2228-2238

2010

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Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

Brain (London, England : 1878), 2012-03, Vol.135 (Pt 3), p.819-832

2012

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point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (16), p.6706-6711

2009

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Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years

JAMA neurology, 2019-02, Vol.76 (2), p.152

2019

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Cathepsin B abundance, activity and microglial localisation in Alzheimer's disease-Down syndrome and early onset Alzheimer's disease; the role of elevated cystatin B

Acta neuropathologica communications, 2023-08, Vol.11 (1), p.132-132, Article 132

2023

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

PLoS genetics, 2007-06, Vol.3 (6), p.e108

2007

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Genomically humanized mice: technologies and promises

Nature reviews. Genetics, 2012-01, Vol.13 (1), p.14-20

2012

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Nature genetics, 2005-08, Vol.37 (8), p.806-808

2005

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Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

Science (American Association for the Advancement of Science), 2003-04, Vol.300 (5619), p.640-643

2003

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A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

PloS one, 2014-01, Vol.9 (1), p.e85962

2014

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Mouse cytoplasmic dynein intermediate chains: identification of new isoforms, alternative splicing and tissue distribution of transcripts

PloS one, 2010-07, Vol.5 (7), p.e11682-e11682

2010

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Science (American Association for the Advancement of Science), 2014-09, Vol.345 (6201), p.1192-1194

2014

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Rodent models in Down syndrome research: impact and future opportunities

Disease models & mechanisms, 2017-10, Vol.10 (10), p.1165-1186

2017

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A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments

Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome

Genetic analysis of the cytoplasmic dynein subunit families

Correlation of clinical and molecular features in spinal bulbar muscular atrophy

Down syndrome—recent progress and future prospects

Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes

Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration

Humanising the mouse genome piece by piece

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome

point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years

Cathepsin B abundance, activity and microglial localisation in Alzheimer's disease-Down syndrome and early onset Alzheimer's disease; the role of elevated cystatin B

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Genomically humanized mice: technologies and promises

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

Mouse cytoplasmic dynein intermediate chains: identification of new isoforms, alternative splicing and tissue distribution of transcripts

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Rodent models in Down syndrome research: impact and future opportunities

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