A novel deletion in progranulin gene is associated with FTDP-17 and CBS

[1]  R. Kardon,et al.  Frontotemporal dementia and parkinsonism linked to chromosome 17. , 2011, Folia neuropathologica.

[2]  J. Hardy,et al.  Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. , 2006, Brain : a journal of neurology.

[3]  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.

[4]  D. Neary,et al.  Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. , 2006, Brain : a journal of neurology.

[5]  S. Melquist,et al.  Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. , 2006, Human molecular genetics.

[6]  J. Morris,et al.  HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin , 2006, Annals of neurology.

[7]  P. Pietrini,et al.  Characteristics of frontotemporal dementia patients with a Progranulin mutation , 2006, Annals of neurology.

[8]  C. Duijn,et al.  Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 , 2006, Nature.

[9]  S. Melquist,et al.  Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.

[10]  A. Berchuck,et al.  The Granulin-Epithelin Precursor Is a Steroid-Regulated Growth Factor in Endometrical Cancer , 2006, The Journal of the Society for Gynecologic Investigation: JSGI.

[11]  G. Binetti,et al.  The H2 MAPT haplotype is associated with familial frontotemporal dementia , 2006, Neurobiology of Disease.

[12]  C. van Broeckhoven,et al.  A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. , 2006, Brain : a journal of neurology.

[13]  S. Melquist,et al.  A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. , 2006, Brain : a journal of neurology.

[14]  C. Broeckhoven,et al.  The role of tau (MAPT) in frontotemporal dementia and related tauopathies , 2004, Human mutation.

[15]  G. Binetti,et al.  Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia. , 2004, Current Alzheimer research.

[16]  W. Kamphorst,et al.  Phenotypic Variation in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 , 2004, Dementia and Geriatric Cognitive Disorders.

[17]  C. H. Ong,et al.  Progranulin (granulin-epithelin precursor, PC-cell derived growth factor, acrogranin) in proliferation and tumorigenesis. , 2003, Histology and histopathology.

[18]  Zhiheng He,et al.  Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis , 2003, Journal of Molecular Medicine.

[19]  C. Lewis,et al.  Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. , 2003, American journal of human genetics.

[20]  G. Binetti,et al.  Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients , 2003, Neuroscience Letters.

[21]  H. Erdjument-Bromage,et al.  Conversion of Proepithelin to Epithelins Roles of SLPI and Elastase in Host Defense and Wound Repair , 2002, Cell.

[22]  M. Spillantini,et al.  Tau gene mutations: dissecting the pathogenesis of FTDP-17. , 2002, Trends in molecular medicine.

[23]  C. Duijn,et al.  Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval , 2002, Molecular Psychiatry.

[24]  J. Hardy,et al.  The genetic and pathological classification of familial frontotemporal dementia. , 2001, Archives of neurology.

[25]  W. Kamphorst,et al.  Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. , 2001, Brain : a journal of neurology.

[26]  J. Haines,et al.  Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. , 2000, JAMA.

[27]  R. Schultz,et al.  Modulation of mouse preimplantation embryo development by acrogranin (epithelin/granulin precursor). , 2000, Developmental biology.

[28]  R. Faber,et al.  Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. , 1999, Neurology.

[29]  M G Spillantini,et al.  Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. , 1999, Journal of neuropathology and experimental neurology.

[30]  Virginia M. Y. Lee,et al.  From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP‐17) caused by the P301L tau mutation , 1999, Annals of neurology.

[31]  G. Schellenberg,et al.  A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) , 1999, Brain : a journal of neurology.

[32]  G. Serrero,et al.  Stimulation of PC cell-derived growth factor (epithelin/granulin precursor) expression by estradiol in human breast cancer cells. , 1999, Biochemical and biophysical research communications.

[33]  A. Bateman,et al.  Granulins: the structure and function of an emerging family of growth factors. , 1998, The Journal of endocrinology.

[34]  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.

[35]  Ronald C. Petersen,et al.  Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.

[36]  N. Craddock,et al.  Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22 , 1998, Neurology.

[37]  G. Schellenberg,et al.  Tau is a candidate gene for chromosome 17 frontotemporal dementia , 1998, Annals of neurology.

[38]  Masatoshi Suzuki,et al.  Identification of a sex steroid-inducible gene in the neonatal rat hypothalamus , 1998, Neuroscience Letters.

[39]  L. Lannfelt,et al.  Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. , 1997, American journal of medical genetics.

[40]  N L Foster,et al.  Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference , 1997, Annals of neurology.

[41]  B. Sherwin Estrogen effects on cognition in menopausal women , 1997, Neurology.

[42]  J. P. Brandel,et al.  Accuracy of the Clinical Diagnosis of Corticobasal Degeneration , 1997, Neurology.

[43]  A A Schäffer,et al.  Faster linkage analysis computations for pedigrees with loops or unused alleles. , 1996, Human heredity.

[44]  K Lange,et al.  Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. , 1996, American journal of human genetics.

[45]  J. Hardy,et al.  Familial non-specific dementia maps to chromosome 3. , 1995, Human molecular genetics.

[46]  R. Palfree,et al.  Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[47]  J. Ott Analysis of Human Genetic Linkage , 1985 .

[48]  M. Folstein,et al.  Clinical diagnosis of Alzheimer's disease , 1984, Neurology.

[49]  Irene Litvan,et al.  Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia , 2003, Annals of neurology.

[50]  G. Schellenberg,et al.  Correction: A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) (Brain (1999) 122, 4 (741-756)) , 1999 .