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Implications and frequency of APP, PSEN1, PSEN2, GRN and MAPT mutation in a well-characterized series of late-onset Alzheimer families
Published in:
2010
By:
- Cruchaga, Carlos;
- Chakraverty, Sumi;
- Haller, Gabe;
- Kevin, Mayo;
- Vallania, Francesco L.;
- Robi, Mitra D.;
- Bird, Tom D.;
- Diaz-Arrestia, Ramón;
- Boeve, Bradley;
- Bradley, Boeve;
- Graff-Radford, Neill R.;
- Mayeux, Richard;
- Goate, Alison
Publication type:
Abstract
P3-287: TDP-43 A315T mutation in familial motor neuron disease
Published in:
2008
By:
- Gitcho, Michael A.;
- Baloh, Robert H.;
- Chakraverty, Sumi;
- Mayo, Kevin;
- Norton, Joanne B.;
- Levitch, Denise;
- Hatanpaa, Kimmo J.;
- White, Charles H.;
- Bigio, Eileen H.;
- Caselli, Richard;
- Baker, Matt;
- Al-Lozi, Muhammad T.;
- Morris, John C.;
- Pestronk, Alan;
- Rademakers, Rosa;
- Goate, Alison M.;
- Cairns, Nigel J.
Publication type:
Abstract
α-2 macroglobulin gene and Alzheimer disease.
Published in:
Nature Genetics, 1999, v. 22, n. 1, p. 17, doi. 10.1038/8726
By:
- Rudrasingham, Varuni;
- Wavrant-De Vrièze, Fabienne;
- Lambert, Jean-Charles;
- Chakraverty, Sumi;
- Kehoe, Patrick;
- Crook, Richard;
- Amouyel, Philippe;
- Wu, William;
- Rice, Frances;
- Pérez-Tur, Jordi;
- Frigard, Bernard;
- Morris, John C.;
- Carty, Stephanie;
- Petersen, Ronald;
- Cottel, Dominique;
- Tunstall, Nigel;
- Holmans, Peter;
- Lovestone, Simon;
- Chartier-Harlin, Marie-Christine
Publication type:
Article
FUS Immunogold Labeling TEM Analysis of the Neuronal Cytoplasmic Inclusions of Neuronal Intermediate Filament Inclusion Disease: A Frontotemporal Lobar Degeneration with FUS Proteinopathy.
Published in:
Journal of Molecular Neuroscience, 2011, v. 45, n. 3, p. 409, doi. 10.1007/s12031-011-9549-8
By:
- Page, Tristan;
- Gitcho, Michael;
- Mosaheb, Sabrina;
- Carter, Deborah;
- Chakraverty, Sumi;
- Perry, Robert;
- Bigio, Eileen;
- Gearing, Marla;
- Ferrer, Isidre;
- Goate, Alison;
- Cairns, Nigel;
- Thorpe, Julian
Publication type:
Article
TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy.
Published in:
Acta Neuropathologica, 2009, v. 118, n. 5, p. 633, doi. 10.1007/s00401-009-0571-7
By:
- Gitcho, Michael A.;
- Bigio, Eileen H.;
- Mishra, Manjari;
- Johnson, Nancy;
- Weintraub, Sandra;
- Mesulam, Marsel;
- Rademakers, Rosa;
- Chakraverty, Sumi;
- Cruchaga, Carlos;
- Morris, John C.;
- Goate, Alison M.;
- Cairns, Nigel J.
Publication type:
Article
TDP-43 A315T mutation in familial motor neuron disease.
Published in:
Annals of Neurology, 2008, v. 63, n. 4, p. 535, doi. 10.1002/ana.21344
By:
- Gitcho, Michael A.;
- Baloh, Robert H.;
- Chakraverty, Sumi;
- Mayo, Kevin;
- Norton, Joanne B.;
- Levitch, Denise;
- Hatanpaa, Kimmo J.;
- White, Charles L.;
- Bigio, Eileen H.;
- Caselli, Richard;
- Baker, Matt;
- Al-Lozi, Muhammad T.;
- Morris, John C.;
- Pestronk, Alan;
- Rademakers, Rosa;
- Goate, Alison M.;
- Cairns, Nigel J.
Publication type:
Article
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.
Published in:
2007
By:
- Kauwe JS;
- Jacquart S;
- Chakraverty S;
- Wang J;
- Mayo K;
- Fagan AM;
- Holtzman DM;
- Morris JC;
- Goate AM;
- Kauwe, John S K;
- Jacquart, Sarah;
- Chakraverty, Sumi;
- Wang, Jun;
- Mayo, Kevin;
- Fagan, Anne M;
- Holtzman, David M;
- Morris, John C;
- Goate, Alison M
Publication type:
journal article
Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation.
Published in:
Annals of Neurology, 2007, v. 61, n. 5, p. 446, doi. 10.1002/ana.21099
By:
- John S. K. Kauwe;
- Sarah Jacquart;
- Sumi Chakraverty;
- Jun Wang;
- Kevin Mayo;
- Anne M. Fagan;
- David M. Holtzman;
- John C. Morris;
- Alison M. Goate
Publication type:
Article
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin.
Published in:
Annals of Neurology, 2006, v. 60, n. 3, p. 314
By:
- Odity Mukherjee;
- Pau Pastor;
- Nigel J. Cairns;
- Sumi Chakraverty;
- John S. K. Kauwe;
- Shantia Shears;
- Maria I. Behrens;
- John Budde;
- Anthony L. Hinrichs;
- Joanne Norton;
- Denise Levitch;
- Lisa Taylor‐Reinwald;
- Michael Gitcho;
- P.‐H. Tu;
- Lea Tenenholz Grinberg;
- Rajka M. Liscic;
- Javier Armendariz;
- John C. Morris;
- Alison M. Goate
Publication type:
Article
Novel haplotypes in 17q21 are associated with progressive supranuclear palsy.
Published in:
Annals of Neurology, 2004, v. 56, n. 2, p. 249
By:
- Pau Pastor;
- Mario Ezquerra;
- J. Christian Perez;
- Sumi Chakraverty;
- Joanne Norton;
- Brad A. Racette;
- Dan McKeel;
- Joel S. Perlmutter;
- Eduardo Tolosa;
- Alison M. Goate
Publication type:
Article
Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred.
Published in:
Annals of Neurology, 2003, v. 54, n. 2, p. 163
By:
- Pau Pastor;
- Catherine M. Roe;
- Andrés Villegas;
- Gabriel Bedoya;
- Sumi Chakraverty;
- Gloria García;
- Victoria Tirado;
- Joanne Norton;
- Silvia Ríos;
- Maribel Martínez;
- Kenneth S. Kosik;
- Francisco Lopera;
- Alison M. Goate
Publication type:
Article
Molecular characterization of novel progranulin ( GRN) mutations in frontotemporal dementia.
Published in:
Human Mutation, 2008, v. 29, n. 4, p. 512, doi. 10.1002/humu.20681
By:
- Mukherjee, Odity;
- Wang, Jun;
- Gitcho, Michael;
- Chakraverty, Sumi;
- Taylor-Reinwald, Lisa;
- Shears, Shantia;
- Kauwe, John S.K.;
- Norton, Joanne;
- Levitch, Denise;
- Bigio, Eileen H.;
- Hatanpaa, Kimmo J.;
- White, Charles L.;
- Morris, John C.;
- Cairns, Nigel J.;
- Goate, Alison
Publication type:
Article
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Published in:
Nature, 1998, v. 393, n. 6686, p. 702, doi. 10.1038/31508
By:
- Hutton, Mike;
- Lendon, Corinne L.;
- Rizzu, Patrizia;
- Baker, Matt;
- Froelich, Susanne;
- Houlden, Henry;
- Pickering-Brown, Stuart;
- Chakraverty, Sumi;
- Isaacs, Adrian;
- Grover, Andrew;
- Hackett, Jennifer;
- Adamson, Jennifer;
- Lincoln, Sarah;
- Dickson, Dennis;
- Davies, Peter;
- Petersen, Ronald C.;
- Stevens, Martijn;
- de Graaff, Esther;
- Wauters, Erwin;
- van Baren, Jeltje
Publication type:
Article

Found: 13