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A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

Human mutation, 2013-02, Vol.34 (2), p.363-373

2013

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Novel TARDBP mutations in Nordic ALS patients

Journal of human genetics, 2012-05, Vol.57 (5), p.316-319

2012

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No common founder for C9orf72 expansion mutation in Sweden

Journal of human genetics, 2017-02, Vol.62 (2), p.321-324

2017

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Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Human mutation, 2015-12, Vol.36 (12), p.1226-1235

2015

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Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Acta neuropathologica communications, 2017-06, Vol.5 (1), p.43-43, Article 43

2017

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Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Biological psychiatry (1969), 2023-05, Vol.93 (9), p.770-779

2023

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Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden

Neurobiology of aging, 2019-12, Vol.84, p.241.e21-241.e25

2019

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Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Biological psychiatry (1969), 2021-04, Vol.89 (8), p.825-835

2021

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Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Neurobiology of aging, 2015-05, Vol.36 (5), p.2005.e15-2005.e22

2015

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Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

Alzheimer's & dementia, 2008-11, Vol.4 (6), p.414-420

2008

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The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1202-1208

2010

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Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1260-1265

2013

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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Lancet neurology, 2020-02, Vol.19 (2), p.145-156

2020

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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Nature Medicine, 2019-01, Vol.25 (1), p.152-164

2019

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Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

Archives of neurology (Chicago), 2011-05, Vol.68 (5), p.581

2011

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Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

PLoS medicine, 2018-01, Vol.15 (1), p.e1002487-e1002487

2018

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A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Brain (London, England : 1878), 2018-10, Vol.141 (10), p.2895-2907

2018

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Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Scientific reports, 2020-07, Vol.10 (1), p.12184-12184, Article 12184

2020

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Acta neuropathologica, 2014-09, Vol.128 (3), p.397-410

2014

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SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

Brain (London, England : 1878), 2021-10, Vol.144 (9), p.2798-2811

2021

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C9orf72 , age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Neurology, 2020-12, Vol.95 (24), p.e3288

2020

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P2‐027: IDENTIFICATION OF A SORL1 MUTATION IN A FAMILY WITH ALZHEIMER DISEASE USING WHOLE EXOME SEQUENCING

Alzheimer's & dementia, 2014-07, Vol.10 (4S_Part_12), p.P480-P480

2014

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IDENTIFICATION OF A SORL1 MUTATION IN A FAMILY WITH ALZHEIMER DISEASE USING WHOLE EXOME SEQUENCING

Alzheimer's & dementia, 2014-07, Vol.10 (4), p.P480-P480

2014

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P1‐054: TARDBP mutation frequency in Scandinavian amyotrophic lateral sclerosis patients

Alzheimer's & dementia, 2010-07, Vol.6 (4S_Part_6), p.S189-S189

2010

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Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort: HUMAN MUTATION

Human mutation, 2015-12, Vol.36 (12), p.1226-1235

2015

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A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

Novel TARDBP mutations in Nordic ALS patients

No common founder for C9orf72 expansion mutation in Sweden

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden

Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

C9orf72 , age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

P2‐027: IDENTIFICATION OF A SORL1 MUTATION IN A FAMILY WITH ALZHEIMER DISEASE USING WHOLE EXOME SEQUENCING

IDENTIFICATION OF A SORL1 MUTATION IN A FAMILY WITH ALZHEIMER DISEASE USING WHOLE EXOME SEQUENCING

P1‐054: TARDBP mutation frequency in Scandinavian amyotrophic lateral sclerosis patients

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort: HUMAN MUTATION

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