Bibliography
Le Ber, I., Camuzat, A., Hannequin, D., Pasquier, F., Guedj, E., Rovelet-Lecrux, A., Hahn-Barma, V., van der Zee, J., Clot, F., Bakchine, S., Puel, M., Ghanim, M., Lacomblez, L., Mikol, J., Deramecourt, V., Lejeune, P., de la Sayette, V., Belliard, S., Vercelletto, M., ⦠Brice, A. (2008). Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain, 131(3), 732â746.
Authors
27
- Isabelle Le Ber (first)
- Agnès Camuzat (additional)
- Didier Hannequin (additional)
- Florence Pasquier (additional)
- Eric Guedj (additional)
- Anne Rovelet-Lecrux (additional)
- Valérie Hahn-Barma (additional)
- Julie van der Zee (additional)
- Fabienne Clot (additional)
- Serge Bakchine (additional)
- Michèle Puel (additional)
- Mustapha Ghanim (additional)
- Lucette Lacomblez (additional)
- Jacqueline Mikol (additional)
- Vincent Deramecourt (additional)
- Pascal Lejeune (additional)
- Vincent de la Sayette (additional)
- Serge Belliard (additional)
- Martine Vercelletto (additional)
- Christian Meyrignac (additional)
- Christine Van Broeckhoven (additional)
- Jean-Charles Lambert (additional)
- Patrice Verpillat (additional)
- Dominique Campion (additional)
- Marie-Odile Habert (additional)
- Bruno Dubois (additional)
- Alexis Brice (additional)
References
61
Referenced
293
10.1186/1742-2094-4-7
/ J Neuroinflammation / Progranulin in frontotemporal lobar degeneration and neuroinflammation by Ahmed (2007)10.1038/nature05016
/ Nature / Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 by Baker (2006)10.1097/WAD.0b013e31803083f2
/ Alzheimer Dis Assoc Disord / Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation by Behrens (2007){'key': 'key\n\t\t\t\t20170424184830_B4', 'article-title': 'A novel deletion in progranulin gene is associated with FTDP-17 and CBS', 'author': 'Benussi', 'year': '2006', 'journal-title': 'Neurobiol Aging'}
/ Neurobiol Aging / A novel deletion in progranulin gene is associated with FTDP-17 and CBS by Benussi (2006)10.1002/ana.10570
/ Ann Neurol / Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia by Boeve (2003)10.1093/brain/awl268
/ Brain / Frontotemporal dementia and parkinsonism associated with the IVS1+1G → A mutation in progranulin: a clinicopathologic study by Boeve (2006)10.1038/sj.ejhg.5201772
/ Eur J Hum Genet / Progranulin mutations in Dutch familial frontotemporal lobar degeneration by Bronner (2007)10.1212/01.wnl.0000265220.64396.b4
/ Neurology / Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation by Bruni (2007)10.1007/s00401-007-0237-2
/ Acta Neuropathol (Berl) / Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration by Cairns (2007)10.1038/nature05017
/ Nature / Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 by Cruts (2006)10.1212/WNL.44.12.2308
/ Neurology / The neuropsychiatric inventory: comprehensive assessment of psychopathology in dementia by Cummings (1994)10.1177/002215540004800713
/ J Histochem Cytochem / Cellular localization of gene expression for progranulin by Daniel (2000)10.1212/01.wnl.0000267701.58488.69
/ Neurology / Clinicopathologic correlation in PGRN mutations by Davion (2007)10.1006/brln.1996.0039
/ Brain Lang / Picture confrontation oral naming: performance differences between aphasics and normals by Deloche (1996)10.1212/WNL.55.11.1621
/ Neurology / The FAB: a frontal assessment battery at bedside by Dubois (2000)10.1016/S1474-4422(04)00710-0
/ Lancet Neurol / Amnestic MCI or prodromal Alzheimer's disease? by Dubois (2004)10.1016/0022-3956(75)90026-6
/ J Psychiatr Res / Mini Mental State: a practical method for grading the cognitive state of patients for the clinician by Folstein (1975)10.1093/brain/awm177
/ Brain / FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer's disease by Foster (2007)10.1093/hmg/ddl241
/ Hum Mol Genet / Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration by Gass (2006)10.1212/01.wnl.0000266638.53185.e7
/ Neurology / Brain spect perfusion of frontotemporal dementia associated with motor neuron disease by Guedj (2007)10.1097/00001756-199907130-00022
/ Neuroreport / Cerebral glucose metabolism in unilateral entorhinal cortex-lesioned rats: an animal PET study by Hayashi (1999)10.1002/ana.20969
/ Ann Neurol / Characteristics of frontotemporal dementia patients with a Progranulin mutation by Huey (2006)10.1038/31508
/ Nature / Association of missense and 5′-splice site mutations in tau with the inherited dementia FTDP-17 by Hutton (1998)10.1212/01.wnl.0000191307.69661.c3
/ Neurology / Clinicopathological analysis of frontotemporal and corticobasal degenerations and PSP by Josephs (2006)10.1097/nen.0b013e31803020cf
/ J Neuropathol Exp Neurol / Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations by Josephs (2007)10.1159/000051212
/ Dement Geriatr Cogn Disord / Clinical and pathological overlap between frontotemporal dementia, primary progressive aphasia and corticobasal degeneration: the Pick complex by Kertesz (1999)10.1017/S1355617700644041
/ J Int Neuropsychol Soc / The frontal behavioral inventory in the differential diagnosis of frontotemporal dementia by Kertesz (2000)10.1093/brain/awh598
/ Brain / The evolution and pathology of frontotemporal dementia by Kertesz (2005)10.1002/ana.20700
/ Ann Neurol / Clinical and pathological characterization of progressive aphasia by Knibb (2006)10.1097/00002093-199812000-00014
/ Alzheimer Dis Assoc Disord / Frontotemporal behavioural scale by Lebert (1998)10.1093/brain/awl288
/ Brain / Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia by Le Ber (2006)10.1002/humu.20520
/ Hum Mutat / Progranulin null mutations in both sporadic and familial frontotemporal dementia by Le Ber (2007)10.1093/brain/awm069
/ Brain / Novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology by Leverenz (2007)10.1007/s00401-007-0223-8
/ Acta Neuropathol / The neuropathology and clinical phenotype of FTD with progranulin mutations by Mackenzie (2007)10.1093/brain/awl276
/ Brain / Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome by Masellis (2006){'key': 'key\n\t\t\t\t20170424184830_B36', 'volume-title': 'Dementia Rating Scale.', 'author': 'Mattis', 'year': '1988'}
/ Dementia Rating Scale. by Mattis (1988)10.1093/brain/122.8.1519
/ Brain / Neocortical and hippocampal glucose hypometabolism following neurotoxic lesions of the entorhinal and perirhinal cortices in the non-human primate as shown by PET. Implications for Alzheimer's disease by Meguro (1999)10.1212/01.WNL.0000090563.97453.90
/ Neurology / Speech and language in progressive nonfluent aphasia compared with early Alzheimer's disease by Mendez (2003)10.1002/ana.91
/ Ann Neurol / Primary progressive aphasia by Mesulam (2001)10.1001/archneur.64.1.43
/ Arch Neurol / Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families by Mesulam (2007)10.1097/01.WCB.0000037997.34930.67
/ J Cereb Blood Flow Metab / Brain glucose hypometabolism after perirhinal lesions in baboons: implications for Alzheimer disease and aging by Millien (2002)10.1002/ana.20963
/ Ann Neurol / HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin by Mukherjee (2006)10.1212/WNL.51.6.1546
/ Neurology / Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria by Neary (1998)10.1126/science.1134108
/ Science / Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis by Neumann (2006)10.1212/WNL.44.7.1264
/ Neurology / Are explicit memory disorders of progressive supranuclear palsy related to damage to striatofrontal circuits? Comparison with Alzheimer's, Parkinson's, and Huntington's diseases by Pillon (1994)10.1002/ana.410430617
/ Ann Neurol / Tau is a candidate gene for chromosome 17 frontotemporal dementia by Poorkaj (1998)10.1016/S1474-4422(07)70221-1
/ Lancet Neurol / Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C → T (Arg493X) mutation: an international initiative by Rademakers (2007){'key': 'key\n\t\t\t\t20170424184830_B48', 'volume-title': 'Test de copie et de reproduction de mémoire de figures géométriques complexes.', 'author': 'Rey', 'year': '1959'}
/ Test de copie et de reproduction de mémoire de figures géométriques complexes. by Rey (1959)10.1038/ng1718
/ Nat Genet / APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy by Rovelet-Lecrux (2006)10.1136/jnnp.2006.109553
/ J Neurol Neurosurg Psychiatry / Progranulin mutations and ALS or ALS-FTD phenotypes by Schymick (2007)10.1093/brain/awl267
/ Brain / Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia by Snowden (2006)10.1073/pnas.95.13.7737
/ Proc Natl Acad Sci USA / Mutation in the tau gene in familial multiple system tauopathy with presenile dementia by Spillantini (1998)10.1097/nen.0b013e3181567873
/ J Neuropathol Exp Neurol / Corticobasal syndrome associated with the A9D Progranulin mutation by Spina (2007)10.1212/01.wnl.0000254460.31273.2d
/ Neurology / Clinicopathologic features of frontotemporal dementia with progranulin sequence variation by Spina (2007)10.1212/01.WNL.0000140289.18472.15
/ Neurology / Clinical, genetic and neuropathologic characteristics of posterior cortical atrophy by Tang-Wai (2004){'key': 'key\n\t\t\t\t20170424184830_B56', 'first-page': '416', 'article-title': 'Consensus statement: clinical and neuropathological criteria for fronto-temporal dementia', 'volume': '4', 'author': 'The Lund and Manchester groups.', 'year': '1994', 'journal-title': 'J Neurol Neurosurg Psychiatry'}
/ J Neurol Neurosurg Psychiatry / Consensus statement: clinical and neuropathological criteria for fronto-temporal dementia by The Lund and Manchester groups. (1994){'key': 'key\n\t\t\t\t20170424184830_B57', 'first-page': '125', 'article-title': 'Données neuropsychologiques chez le sujet âgé normal', 'volume-title': 'Démences et syndromes démentiels. Approche neuropsychologique.', 'author': 'Thuillard', 'year': '1991'}
/ Démences et syndromes démentiels. Approche neuropsychologique. / Données neuropsychologiques chez le sujet âgé normal by Thuillard (1991)10.1001/archneur.64.8.1148
/ Arch Neurol / Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations by Van Deerlin (2007){'key': 'key\n\t\t\t\t20170424184830_B59', 'first-page': '25', 'article-title': 'L’épreuve de rappel libre/rappel indicé de 16 items (RL/RI-16)', 'volume-title': 'L’évaluation des troubles de la mémoire.', 'author': 'Van der Linden', 'year': '2004'}
/ L’évaluation des troubles de la mémoire. / L’épreuve de rappel libre/rappel indicé de 16 items (RL/RI-16) by Van der Linden (2004)10.1002/humu.9484
/ Hum Mutat / Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia by van der Zee (2007)10.1001/archneur.64.3.371
/ Arch Neurol / Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations by Whitwell (2007)
Dates
Type | When |
---|---|
Created | 17 years, 7 months ago (Feb. 2, 2008, 8:24 p.m.) |
Deposited | 8 years ago (Aug. 22, 2017, 8:05 p.m.) |
Indexed | 2 days, 20 hours ago (Sept. 3, 2025, 6:01 a.m.) |
Issued | 17 years, 7 months ago (Feb. 2, 2008) |
Published | 17 years, 7 months ago (Feb. 2, 2008) |
Published Online | 17 years, 7 months ago (Feb. 2, 2008) |
Published Print | 17 years, 6 months ago (March 1, 2008) |
@article{Le_Ber_2008, title={Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study}, volume={131}, ISSN={0006-8950}, url={http://dx.doi.org/10.1093/brain/awn012}, DOI={10.1093/brain/awn012}, number={3}, journal={Brain}, publisher={Oxford University Press (OUP)}, author={Le Ber, Isabelle and Camuzat, Agnès and Hannequin, Didier and Pasquier, Florence and Guedj, Eric and Rovelet-Lecrux, Anne and Hahn-Barma, Valérie and van der Zee, Julie and Clot, Fabienne and Bakchine, Serge and Puel, Michèle and Ghanim, Mustapha and Lacomblez, Lucette and Mikol, Jacqueline and Deramecourt, Vincent and Lejeune, Pascal and de la Sayette, Vincent and Belliard, Serge and Vercelletto, Martine and Meyrignac, Christian and Van Broeckhoven, Christine and Lambert, Jean-Charles and Verpillat, Patrice and Campion, Dominique and Habert, Marie-Odile and Dubois, Bruno and Brice, Alexis}, year={2008}, month=feb, pages={732–746} }