Results 141 to 150 of about 5,180,843 (313)

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

How does a woman with Alzheimer’s disease make sense of becoming cared for? [PDF]

, 2016
This case study explores the meaning one woman with Alzheimer’s disease gives to receiving assistance with instrumental activities of daily living (IADL) from her spouse.
Gayle Borley, Sarah Church, Borley, Gayle, Judith Sixsmith, Sixsmith, Judith, Sixsmith, Judith; id_orcid, Church, Sarah   +6 more
core   +1 more source

Additional file 1: of Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimerâ s disease

, 2019
Table S1. Participantsâ family mutations. (DOCX 17 kb)
Weston, Philip, Poole, Teresa, O’Connor, Antoinette, Heslegrave, Amanda, Ryan, Natalie, Liang, Yuying, Druyeh, Ronald, Mead, Simon, Blennow, Kaj, Schott, Jonathan, Frost, Chris, Zetterberg, Henrik, Fox, Nick   +12 more
openaire   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Assessment of outcome in clinical trials in mild Alzheimer 19s disease: urgent time for a rethink? [PDF]

, 2013
Introduction: A major barrier for clinical trials in Alzheimer's disease is the lack of sensitive clinical endpoints for the early stages. Until recently, regulatory agencies have required demonstration of improvement in two disease domains, cognition ...
McGoldrick, S., Duffy, Fiona, McGoldrick, Susan, Reynish, Emma, Kelly, Fiona, Morrison, Y., Wilson, L., Bennett, Crispin, Wilson, J T Lindsay, Bennett, C., Morrison, Yvonne, Duffy, F., Reynish, E.   +12 more
core  

Proteomic analysis in Alzheimer’s disease and other dementias: a focus on sex-specific differences

Alzheimer’s Research & Therapy
Background Fluid protein studies in cerebrospinal fluid (CSF) and plasma have provided important insights into neurodegenerative dementias; however, there is a limited investigation of sex-related differences and cross-biofluid relationships.
Aina Comas-Albertí, Albert Lladó, Diana Esteller-Gauxax, Sergi Borrego-Écija, Neus Falgàs, Farida Dakterzada, Agnès Pérez-Millan, Roger Puey, Tània Collet-Romà, Núria Guillén, Miquel Massons, Adrià Tort-Merino, Josep Maria Augé, Guadalupe Fernandez-Villullas, Bea Bosch, Raquel Ruiz-García, Laura Naranjo, Mircea Balasa, Gerard Piñol-Ripoll, Anna Antonell, Raquel Sánchez-Valle   +20 more
doaj   +1 more source

Additional file 1: of Identification of exon skipping events associated with Alzheimerâ s disease in the human hippocampus

, 2019
Figure S1. Functional impact of the AD-associated exon skipping event (exon 37) in RELN. (A) Schema of the potential functional implication of exon skipping and splicing-associated SNP. (B) Normalized expression levels for exon 37 between AD and CN participants.
Han, Seonggyun, Miller, Jason, Byun, Seyoun, Kim, Dokyoon, Risacher, Shannon, Saykin, Andrew, Lee, Younghee, Nho, Kwangsik   +7 more
openaire   +1 more source

Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen, Mark Paine, Soohyun Lee, Amir Fazlollahi, Baibin (Ben) Wang, John D. O'Sullivan, Peter J. Nestor   +6 more
wiley   +1 more source

Genetic Linkage Studies in Late-Onset Alzheimer’s Disease Families

, 1988
Alzheimer’s disease (AD) is a devastating neurological disorder and the leading cause of dementia among the elderly. Recent studies have localized the gene for familial AD to chromosome 21 in a series of early-onset AD families (EOAD; mean age-of-onset,
Hung, W.-Y, J. P. Eisenmenger, P. C. Gaskell, Heyman, A. L, Pericak-Vance, M. A, J. E. Lee, M. J. Alberts, Haynes, C. S, Eisenmenger, J. P, J. A. Trofatter, C. S. Haynes, Gilbert, J. R, Clark, C. M, Roses, A. D, Yamaoka, L. H, R. J. Bartlett, Trofatter, J. A, M. A. Pericak-Vance, A. L. Heyman, W.-Y. Hung, Haines, J. L, Earl, N. L, Dawson, D. V, D. V. Dawson, Bartlett, R. J, T. Siddique, Siddique, T, J. R. Gilbert, Speer, M. C, M. C. Speer, Lee, J. E, Alberts, M. J, L. H. Yamaoka, A. D. Roses, Gaskell, P. C, C. M. Clark, N. L. Earl, J. L. Haines   +37 more
core   +1 more source

Degenerate codon mixing for PCR-based manipulation of highly repetitive sequences

BMC Research Notes, 2018
Objective Repeat expansion of polyglutamine tracks leads to a group of inherited human neurodegenerative disorders. Studying such repetitive sequences is required to gain insight into the pathophysiology of these diseases.
Dhanushika Ratnayake, Morgan Newman, Michael Lardelli   +2 more
doaj   +1 more source