J R Murrell
Affiliation: Indiana University
- Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17J R Murrell
Department of Pathology, Indiana University Medical Center, Indianapolis, IN 47202, USA
Am J Hum Genet 61:1131-8. 1997..The gene for tau also was analyzed, through samples from the family...
- Selenium level and depressive symptoms in a rural elderly Chinese cohortSujuan Gao
Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN 46202 2872, USA
BMC Psychiatry 12:72. 2012..The few studies examining the relationship between selenium and depression have yielded inconsistent results and none of these studies considered the role of cognitive function in this context...
- Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein geneJ R Murrell
Department of Pathology and Laboratory Medicine, 635 Barnhill Dr, Medical Science Bldg A128, Indianapolis, IN 46202, USA
Arch Neurol 57:885-7. 2000..Alzheimer disease is the most common form of dementia. Mutations in the genes amyloid precursor protein (APP), presenilin 1(PS1) and presenilin 2(PS2) have been found in early-onset familial forms of Alzheimer disease..
- Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndromeB Ghetti
Department of Pathology and Laboratory Medicine, Division of Neuropathology, Indiana University School of Medicine, 635 Barnhill Drive, MS A142, Indianapolis, IN 46202, USA
Ann N Y Acad Sci 920:52-62. 2000..The present findings indicate that the G389R mutation in Tau can cause a dementia similar to that in Pick's disease...
- Phenotypic variability in three families with valosin-containing protein mutationS Spina
Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Eur J Neurol 20:251-8. 2013..The phenotype of IBMPFD [inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (FTD)] associated with valosin-containing protein (VCP) mutation is described in three families...
- Biochemical characterization of a neuroserpin variant associated with hereditary dementiaM Yazaki
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA
Am J Pathol 158:227-33. 2001..Chemical characterization of the variant neuroserpin will significantly enhance the understanding of this protein in both normal physiology and neurodegenerative diseases...
- Clinicopathologic features of frontotemporal dementia with progranulin sequence variationS Spina
Indiana Alzheimer Disease Center, Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Neurology 68:820-7. 2007..Recently, mutations in Progranulin (PGRN), predicted to cause premature truncation of the PGRN coding sequence, were found in patients with inherited FTLD-U and ub-ir neuronal intranuclear inclusions (NII)...
- A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathyT Uemichi
Department of Medicine, Indiana University Medical Center, Indianapolis
J Med Genet 29:888-91. 1992..It is hypothesised that the TTR molecules which have no cysteine have a unique structure in heterozygous TTR polymers and are responsible for amyloid fibril formation...
- Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizuresM Takao
Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis 46202, USA
J Neuropathol Exp Neurol 60:1137-52. 2001..We hypothesize that the PSEN1 mutation may have a causal relationship with an abnormality in neuronal development...
- An expression-independent catalog of genes from human chromosome 22J A Trofatter
Department of Neurology, Massachusetts General Hospital, Charlestown, USA
Genome Res 5:214-24. 1995..This approach is expected to facilitate fine-structure physical and transcription mapping of human chromosomes, and accelerate the process of disease gene identification...
- Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's diseaseA M Shiarli
Clinical Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Salford, UK
Neuropathol Appl Neurobiol 32:374-87. 2006....
- Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)Y Tsuboi
Mayo Clinic, Jacksonville, FL 32224, USA
Neurology 59:1791-3. 2002..A founder effect indicated by a shared disease haplotype was seen only in two Japanese families. The N279K mutation can develop independently in different parts of the world...
- Mutation in the tau gene in familial multiple system tauopathy with presenile dementiaM G Spillantini
Medical Research Council Centre for Brain Repair and Department of Neurology, University of Cambridge, Robinson Way, Cambridge CB2 2PY, UK
Proc Natl Acad Sci U S A 95:7737-41. 1998..The results show that dysregulation of tau protein production can cause neurodegeneration and imply that the FTDP-17 gene is the tau gene. This work has major implications for Alzheimer's disease and other tauopathies...
- Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tauO Bugiani
Istituto Neurologico Carlo Besta, Milano, Italy
J Neuropathol Exp Neurol 58:667-77. 1999..Biochemically, recombinant tau protein with the P301S mutation showed a greatly reduced ability to promote microtubule assembly...
- Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17L Varani
Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, United Kingdom
Proc Natl Acad Sci U S A 96:8229-34. 1999..By exon trapping, the reduction in thermodynamic stability is correlated with increased splicing in of exon 10...
- A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsyM B Delisle
Neuropathology Laboratory, INSERM U466, University Hospital, University Paul Sabatier, Toulouse, France
Acta Neuropathol 98:62-77. 1999..Our results suggest that the N279K mutation affects splicing similar to the intronic mutations, allowing exon 10 to be incorporated more frequently in the Tau transcript...