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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human mutation, 2022-12, Vol.43 (12), p.2130-2140

2022

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Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease

Human mutation, 2016-05, Vol.37 (5), p.488-494

2016

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Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia

Journal of neurology, 2018-06, Vol.265 (6), p.1381-1392

2018

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Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Journal of medical genetics, 2019-04, Vol.56 (4), p.209

2019

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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Genetics in medicine, 2020-05, Vol.22 (5), p.889-897

2020

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Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

Neurobiology of aging, 2021-01, Vol.97, p.148.e9-148.e16

2021

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O3‐09‐04: PRESYMPTOMATIC COGNITIVE DECLINE IN FAMILIAL FRONTOTEMPORAL DEMENTIA: A LONGITUDINAL STUDY

Alzheimer's & dementia, 2016-07, Vol.12 (7S_Part_6), p.P308-P309

2016

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LONGITUDINAL MULTIMODAL NEUROIMAGING IN PRESYMPTOMATIC FRONTOTEMPORAL DEMENTIA: PREDICTING SYMPTOM ONSET IN THE DUTCH FTD RISK COHORT

Alzheimer's & dementia, 2017-07, Vol.13 (7), p.P1540-P1541

2017

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PTRHD1 Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability

Movement disorders, 2018-11, Vol.33 (11), p.1814-1819

2018

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Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation

Journal of molecular neuroscience, 2011-11, Vol.45 (3), p.354-358

2011

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O4‐02‐06: Neuropsychological and Gray Matter Volume Decline in Presymptomatic C9ORF72 Mutation Carriers

Alzheimer's & dementia, 2016-07, Vol.12 (7S_Part_7), p.P336-P337

2016

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IC‐P‐079: Neuropsychological and Gray Matter Volume Decline in Presymptomatic C9ORF72 Mutation Carriers

Alzheimer's & dementia, 2016-07, Vol.12 (7S_Part_1), p.P62-P62

2016

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ARE NEUROFILAMENT LIGHT CHAIN AND WHITE MATTER INTEGRITY RELATED BIOMARKERS FOR FAMILIAL FRONTOTEMPORAL DEMENTIA?

Alzheimer's & dementia, 2017-07, Vol.13 (7), p.P751-P752

2017

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Three VCP Mutations in Patients with Frontotemporal Dementia

Journal of Alzheimer's disease, 2018-01, Vol.65 (4), p.1139

2018

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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1091-1097

2019

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Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers

Dementia and geriatric cognitive disorders extra, 2016-07, Vol.6 (2), p.330-340

2016

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Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

Acta neuropathologica communications, 2022-09, Vol.10 (1), p.141-3, Article 141

2022

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P2‐024: Whole‐exome sequencing in dutch families with Alzheimer's disease

Alzheimer's & dementia, 2015-07, Vol.11 (7S_Part_10), p.P490-P490

2015

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O2‐01‐02: Longitudinal, structural and functional connectivity in presymptomatic familial frontotemporal dementia

Alzheimer's & dementia, 2015-07, Vol.11 (7S_Part_4), p.P171-P172

2015

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Review and update of SPRED1 mutations causing legius syndrome

Human mutation, 2012-11, Vol.33 (11), p.1538-1546

2012

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

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Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

Brain (London, England : 1878), 2019-01, Vol.142 (1), p.193-208

2019

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

BMC medical genetics, 2015-08, Vol.16 (1), p.61-61, Article 61

2015

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Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Nature Medicine, 2022-10, Vol.28 (10), p.2194-2206

2022

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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

O3‐09‐04: PRESYMPTOMATIC COGNITIVE DECLINE IN FAMILIAL FRONTOTEMPORAL DEMENTIA: A LONGITUDINAL STUDY

LONGITUDINAL MULTIMODAL NEUROIMAGING IN PRESYMPTOMATIC FRONTOTEMPORAL DEMENTIA: PREDICTING SYMPTOM ONSET IN THE DUTCH FTD RISK COHORT

PTRHD1 Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability

Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation

O4‐02‐06: Neuropsychological and Gray Matter Volume Decline in Presymptomatic C9ORF72 Mutation Carriers

IC‐P‐079: Neuropsychological and Gray Matter Volume Decline in Presymptomatic C9ORF72 Mutation Carriers

ARE NEUROFILAMENT LIGHT CHAIN AND WHITE MATTER INTEGRITY RELATED BIOMARKERS FOR FAMILIAL FRONTOTEMPORAL DEMENTIA?

Three VCP Mutations in Patients with Frontotemporal Dementia

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

P2‐024: Whole‐exome sequencing in dutch families with Alzheimer's disease

O2‐01‐02: Longitudinal, structural and functional connectivity in presymptomatic familial frontotemporal dementia

Review and update of SPRED1 mutations causing legius syndrome

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

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