𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Toward deconstructing the phenotype of late-onset Pompe disease

✍ Scribed by Angela Schüller; Stephan Wenninger; Nicola Strigl-Pill; Benedikt Schoser

Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
246 KB
Volume
160C
Category
Article
ISSN
1552-4868

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

An association study of common variation
An association study of common variation at the MAPT locus with late-onset Alzheimer's disease
✍ Richard Abraham; Rebecca Sims; Liam Carroll; Paul Hollingworth; Michael C. O'Don 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

## Abstract The __MAPT__ gene that encodes Tau is located on chromosome 17q21, in a region, which has evolved to form two major haplotypes, H1 and H2. There is strong evidence that the H1 haplotype, and a sub‐haplotype (H1C), are overrepresented and associated with increased risk for the sporadic t

Association of a haplotype for tumor nec
Association of a haplotype for tumor necrosis factor in siblings with late-onset Alzheimer disease: The NIMH Alzheimer disease genetics initiative
✍ Collins, Julianne S. ;Perry, Rodney T. ;Watson, Bracie ;Harrell, Lindy E. ;Acton 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 120 KB 👁 2 views

Tumor necrosis factor (TNF), a proinflammatory cytokine, may be involved in the pathogenesis of Alzheimer disease (AD) based on observations that senile plaques have been found to upregulate proinflammatory cytokines. Additionally, nonsteroidal anti-inflammatory drugs have been found to delay and pr

Validity of family history for the diagn
Validity of family history for the diagnosis of dementia among siblings of patients with late-onset Alzheimer's disease
✍ G. Devi; K. Marder; P.W. Schofield; M.X. Tang; Y. Stern; R. Mayeux 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

We examined 180 siblings of 127 probands with probable or possible Alzheimer's dementia (AD) in a family study of AD. The overall sensitivity of a simple family history questionnaire was 64% and the specificity was 84%. Sensitivity improved 90-100% with minimal decline in specificity when we conside

LATE ONSET HUNTINGTON'S DISEASE AS A CAU
LATE ONSET HUNTINGTON'S DISEASE AS A CAUSE OF DEMENTIA: WHERE SHOULD THE CLINICIAN'S INDEX OF SUSPICION LIE?
✍ NICHOLAS HINDLEY; GAIL NORBURY; KIM JOBST; ELISABETH ROSSER; SUSAN HUSON; MARY-J 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 1 views

Our experience with two genetically confirmed cases of late onset Huntington's disease (HD) in a longitudinal dementia research study suggested that clinical misdiagnosis can easily occur. We therefore undertook genetic testing for H D in a further 84 elderly subjects, 81 of whom had come to postmor