Results 121 to 130 of about 464,323 (316)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Aluminum and Neurodegenerative Disease

, 2017
This review assembles evidence derived from both epidemiological and laboratory studies that suggest exposure to aluminum salts may be more hazardous than generally recognized. The overview describes how available levels of environmental aluminum may be increasing, and it is suggested that this can have adverse health consequences.
Bondy, Stephen C, Campbell, Arezoo
openaire   +3 more sources

The integration site of the APP transgene in the J20 mouse model of Alzheimer’s disease [version 2; referees: 1 approved, 2 approved with reservations]

Wellcome Open Research, 2018
Background: Transgenic animal models are a widely used and powerful tool to investigate human disease and develop therapeutic interventions. Making a transgenic mouse involves random integration of exogenous DNA into the host genome that can have the ...
Justin L. Tosh, Matthew Rickman, Ellie Rhymes, Frances E. Norona, Emma Clayton, Lennart Mucke, Adrian M. Isaacs, Elizabeth M.C. Fisher, Frances K. Wiseman   +8 more
doaj   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Inflammation and neurodegenerative diseases [PDF]

The American Journal of Clinical Nutrition, 2006
The decline in mental fitness associated with Alzheimer disease is accompanied by physical changes in the brain, including the development of characteristic plaques and neurofibrillary tangles, but the pathogenesis of those changes is not clear. Recent work suggests that the activation of microglia in response to injury, illness, aging, or other causes
openaire   +2 more sources

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Alzheimer's disease and other neurodegenerative diseases

, 2019
Neurodegenerative diseases are a heterogeneous group of disorders or conditions characterised by the progressive degeneration of the structure and function of the central nervous system or the peripheral nervous system.
Fuller, S.J., Sohrabi, Hamid R., Martins, Ralph N., Hamid R. Sohrabi, Kathryn G. Goozee, Sankaranarayanan, A., Goozee, Kathryn, Fuller, Stephanie J., Sankaranarayanan, Anoop (R19516), Stephanie J. Fuller, Ralph N. Martins, Anoop Sankaranarayanan, Goozee, K.G., Martins, R.N., Sohrabi, H.R.   +14 more
core   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Mitochondrial β-amyloid in Alzheimer's disease

, 2011
This research is supported by Alzheimer's Research UK, the Wellcome Trust and the Biotechnology and Biological Sciences Research Council.It is well established that the intracellular accumulation of beta-amyloid is associated with Alzheimer’s disease and
Ainge, JA, James A. Ainge, Muirhead, Kirsty Elizabeth Adair, Gunn-Moore, FJ, Muirhead, KE, Laura Aitken, Aitken, Laura, Zoe E. Allen, Allen, Zoe Eleanor, Gunn-Moore, Frank J, Conway, Stuart, Frank J. Gunn-Moore, Allen, ZE, Borger, E, Aitken, L, Borger, Eva, Conway, SJ, Ainge, James Alexander, Kirsty E.A. Muirhead, Eva Borger, Stuart J. Conway   +20 more
core   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source