An algorithm for genetic testing of frontotemporal lobar degeneration - Concepedia

Concepedia

Publication | Open Access

An algorithm for genetic testing of frontotemporal lobar degeneration

DOI Full Paper Access

80

Citations

52

References

2011

Year

Jill Goldman, Rosa Rademakers, Edward D. Huey, Adam L. Boxer, Richard Mayeux, Bruce L. Miller, Bradley F. Boeve

Abstract

Recent findings in genetics, pathology, and imaging allow clinicians to use the clinical presentation of the patient with FTLD to inform genetic testing decisions.

References

	Year	Citations
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Manuela Neumann, Deepak M. Sampathu, Linda K. Kwong, Science	2006	6.5K
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Mike Hutton, Corinne Lendon, Patrizia Rizzu, Nature Neurodegenerative DiseasesMendelian DisorderGenetic DisorderGeneticsMolecular Biology	1998	3.5K
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Matt Baker, Ian R. Mackenzie, Stuart Pickering‐Brown, Nature Neurodegenerative DiseasesAlzheimer's DiseaseMendelian DisorderDementiaGenetics	2006	2.1K
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Marc Cruts, Ilse Gijselinck, Julie van der Zee, Nature Neurodegenerative DiseasesAlzheimer's DiseaseMendelian DisorderNull MutationsGenetic Disorder	2006	1.5K
Clinical and Pathological Diagnosis of Frontotemporal Dementia Guy M. McKhann Archives of Neurology Neurodegenerative DiseasesAlzheimer's DiseasePsychiatryCorticobasal DegenerationDementia	2001	1.5K
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein Giles D. Watts, Jill Wymer, Margaret J. Kovach, Nature Genetics Mutant Valosin-containing ProteinAlzheimer's DiseaseInclusion Body MyopathyPathologyDegenerative Disease	2004	1.4K
Tau is a candidate gene for chromosome 17 frontotemporal dementia Parvoneh Poorkaj, Thomas D. Bird, Ellen M. Wijsman, Annals of Neurology	1998	1.4K
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration Nigel J. Cairns, Eileen H. Bigio, Ian R. Mackenzie, Acta Neuropathologica Frontotemporal Lobar DegenerationNeurobiology Of DiseaseNosologic CriteriaNeurological DisorderNeuroanatomy	2007	1.1K
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia Gaia Skibinski, Jeremy Brown, Lisa Chakrabarti, Nature Genetics Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderGeneticsDementia	2005	804
A new subtype of frontotemporal lobar degeneration with FUS pathology Manuela Neumann, Rosa Rademakers, Sigrun Roeber, Brain Corticobasal DegenerationPathologyDermatologyTau ProteinSocial Sciences	2009	711

Page 1