Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family
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C. van Broeckhoven | S. Engelborghs | R. Vandenberghe | P. Boon | P. D. De Deyn | M. Cruts | P. Cras | M. Vandenbulcke | M. Miatton | P. Santens | J. van der Zee | Jean-Jacques Martin | A. Sieben | S. Van Mossevelde | S. Van Hoecke | M. Praet | T. van Langenhove | Eline Wauters | P. D. de Deyn
[1] T. Hortobágyi,et al. Vascular cognitive impairment neuropathology guidelines (VCING): the contribution of cerebrovascular pathology to cognitive impairment. , 2016, Brain : a journal of neurology.
[2] C. van Broeckhoven,et al. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort , 2015, Brain : a journal of neurology.
[3] C. van Broeckhoven,et al. Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort , 2015, Neurology.
[4] H. Braak,et al. PART is part of Alzheimer disease , 2015, Acta Neuropathologica.
[5] Thomas Wisniewski,et al. Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy , 2015, Acta Neuropathologica.
[6] Thomas Arzberger,et al. Frontotemporal lobar degeneration FTLD-tau: preclinical lesions, vascular, and Alzheimer-related co-pathologies , 2015, Journal of Neural Transmission.
[7] L. Naccache,et al. Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. , 2014, JAMA neurology.
[8] B. Leavitt,et al. Progranulin in neurodegenerative disease , 2014, Trends in Neurosciences.
[9] J. Schneider,et al. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. , 2014, Journal of neuropathology and experimental neurology.
[10] F. Lamari,et al. Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration , 2014, neurogenetics.
[11] B. Avants,et al. White matter imaging helps dissociate tau from TDP-43 in frontotemporal lobar degeneration , 2013, Journal of Neurology, Neurosurgery & Psychiatry.
[12] C. van Broeckhoven,et al. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. , 2013, JAMA neurology.
[13] M. Bozzali,et al. Structural brain signature of FTLD driven by Granulin mutation. , 2012, Journal of Alzheimer's disease : JAD.
[14] D. Mari,et al. GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype. , 2013, Journal of Alzheimer's disease : JAD.
[15] C. Duyckaerts,et al. Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation. , 2013, Journal of Alzheimer's disease : JAD.
[16] C. van Broeckhoven,et al. Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models , 2012, Molecular Neurobiology.
[17] I. Mackenzie,et al. Advances in understanding the molecular basis of frontotemporal dementia , 2012, Nature Reviews Neurology.
[18] V. Hachinski. Staging and Natural History of Cerebrovascular Pathology in Dementia , 2012, Neurology.
[19] Marc Cruts,et al. Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases , 2012, Human mutation.
[20] V. Deramecourt,et al. Staging and natural history of cerebrovascular pathology in dementia , 2012, Neurology.
[21] M. Weiner,et al. A Network Diffusion Model of Disease Progression in Dementia , 2012, Neuron.
[22] Efstathios D. Gennatas,et al. Predicting Regional Neurodegeneration from the Healthy Brain Functional Connectome , 2012, Neuron.
[23] C. Jack,et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics , 2012, Brain : a journal of neurology.
[24] D. Leys,et al. Cerebrovascular Lesions in Patients with Frontotemporal Lobar Degeneration: A Neuropathological Study , 2012, Neurodegenerative Diseases.
[25] S. Pereson,et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study , 2012, The Lancet Neurology.
[26] J. Whitwell,et al. Neuroimaging in frontotemporal lobar degeneration—predicting molecular pathology , 2012, Nature Reviews Neurology.
[27] J. Rohrer,et al. Phenotypic signatures of genetic frontotemporal dementia. , 2011, Current opinion in neurology.
[28] D. Galimberti,et al. Heterosexual Pedophilia in a Frontotemporal Dementia Patient with a Mutation in the Progranulin Gene , 2011, Biological Psychiatry.
[29] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[30] David Heckerman,et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.
[31] Olaf Ansorge,et al. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. , 2011, Brain : a journal of neurology.
[32] Nick C Fox,et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. , 2011, Brain : a journal of neurology.
[33] J. Gunter,et al. Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN , 2011, Neurology.
[34] J. Trojanowski,et al. A harmonized classification system for FTLD-TDP pathology , 2011, Acta Neuropathologica.
[35] N. Cairns,et al. Novel Types of Frontotemporal Lobar Degeneration: Beyond Tau and TDP-43 , 2011, Journal of Molecular Neuroscience.
[36] William T. Hu,et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. , 2011, Archives of neurology.
[37] B. Miller,et al. Classification of primary progressive aphasia and its variants , 2011, Neurology.
[38] N. Bresolin,et al. Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. , 2011, Journal of Alzheimer's disease : JAD.
[39] S. Cappa,et al. From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder. , 2011, Journal of Alzheimer's disease : JAD.
[40] N. Bresolin,et al. Cerebrospinal fluid biomarkers in Progranulin mutations carriers. , 2011, Journal of Alzheimer's disease : JAD.
[41] Charles Duyckaerts,et al. National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach , 2011, Acta Neuropathologica.
[42] Sébastien Ourselin,et al. Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations☆ , 2010, NeuroImage.
[43] E. Warrington,et al. Progranulin-associated primary progressive aphasia: A distinct phenotype? , 2010, Neuropsychologia.
[44] N. Bresolin,et al. Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease , 2009, Journal of the Neurological Sciences.
[45] H. Kretzschmar,et al. A new subtype of frontotemporal lobar degeneration with FUS pathology. , 2009, Brain : a journal of neurology.
[46] S. Mead,et al. Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation , 2009, Journal of Neurology, Neurosurgery & Psychiatry.
[47] C R Jack,et al. Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations , 2009, Neurology.
[48] S. Engelborghs,et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His , 2009, Neurology.
[49] K. Sleegers,et al. Serum biomarker for progranulin‐associated frontotemporal lobar degeneration , 2009, Annals of neurology.
[50] C. Jack,et al. Prominent phenotypic variability associated with mutations in Progranulin , 2009, Neurobiology of Aging.
[51] C. Broeckhoven,et al. Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update , 2008, Human mutation.
[52] G. Binetti,et al. Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration , 2008, Neurology.
[53] C. Broeckhoven,et al. Progranulin variability has no major role in Parkinson disease genetic etiology , 2008, Neurology.
[54] Peter Heutink,et al. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia , 2008, The Lancet Neurology.
[55] K. Sleegers,et al. Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease , 2008, Neurology.
[56] C. Broeckhoven,et al. Progranulin genetic variability contributes to amyotrophic lateral sclerosis , 2008, Neurology.
[57] Marc Cruts,et al. Loss of progranulin function in frontotemporal lobar degeneration. , 2008, Trends in genetics : TIG.
[58] Xun Hu,et al. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.
[59] Eric Guedj,et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. , 2008, Brain : a journal of neurology.
[60] Andrew King,et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. , 2008, Brain : a journal of neurology.
[61] Julie S Snowden,et al. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. , 2008, Brain : a journal of neurology.
[62] C. Broeckhoven,et al. Progranulin locus deletion in frontotemporal dementia , 2008, Human mutation.
[63] D. Geschwind,et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative , 2007, The Lancet Neurology.
[64] B. Dubois,et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia , 2007, Human mutation.
[65] J. Trojanowski,et al. Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. , 2007, Archives of neurology.
[66] K. Sleegers,et al. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia , 2007, Human mutation.
[67] P. Pietrini,et al. Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation , 2007, Neurology.
[68] Clifford R Jack,et al. Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. , 2007, Archives of neurology.
[69] R. Petersen,et al. Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations , 2007, Journal of neuropathology and experimental neurology.
[70] J. Hardy,et al. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes , 2006, Journal of Neurology, Neurosurgery & Psychiatry.
[71] C. van Broeckhoven,et al. Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. , 2006, Current Alzheimer research.
[72] D. Neary,et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. , 2006, Brain : a journal of neurology.
[73] S. Melquist,et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. , 2006, Human molecular genetics.
[74] P. Pietrini,et al. Characteristics of frontotemporal dementia patients with a Progranulin mutation , 2006, Annals of neurology.
[75] C. Duijn,et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 , 2006, Nature.
[76] S. Melquist,et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.
[77] C. Jack,et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. , 2006, Brain : a journal of neurology.
[78] Holger Hummerich,et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia , 2005, Nature Genetics.
[79] A. Pestronk,et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein , 2004, Nature Genetics.
[80] H. Braak,et al. Neuropathological stageing of Alzheimer-related changes , 2004, Acta Neuropathologica.
[81] H. Braak,et al. Phases of Aβ-deposition in the human brain and its relevance for the development of AD , 2002, Neurology.
[82] R. Faber,et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. , 1999, Neurology.
[83] M. Freedman,et al. Frontotemporal lobar degeneration , 1998, Neurology.
[84] A Klug,et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[85] Ronald C. Petersen,et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.
[86] G. Schellenberg,et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia , 1998, Annals of neurology.
[87] K. Jellinger,et al. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. , 1996, Neurology.
[88] S. M. Sumi,et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD) , 1991, Neurology.