Results 51 to 60 of about 148,501 (250)

C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity

Frontiers in Genetics, 2023
C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual risk outside the hexanucleotide repeat expansion, but the evidence is conflicting ...
Karri Kaivola, Karri Kaivola, Matti Pirinen, Matti Pirinen, Matti Pirinen, Hannu Laaksovirta, Lilja Jansson, Lilja Jansson, Osma Rautila, Osma Rautila, Jyrki Launes, Laura Hokkanen, Jari Lahti, Johan G. Eriksson, Johan G. Eriksson, Johan G. Eriksson, Johan G. Eriksson, Timo E. Strandberg, Timo E. Strandberg, FinnGen, Pentti J. Tienari, Pentti J. Tienari   +21 more
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First-in-human trial of blood–brain barrier opening in amyotrophic lateral sclerosis using MR-guided focused ultrasound

Nature Communications, 2019
MR-guided focused ultrasound (MRgFUS) is an emerging technology that can accurately and transiently permeabilize the blood-brain barrier (BBB) for targeted drug delivery to the central nervous system.
A. Abrahão, Ying Meng, Maheleth Llinas, Yuexi Huang, C. Hamani, T. Mainprize, I. Aubert, C. Heyn, S. Black, K. Hynynen, N. Lipsman, L. Zinman   +11 more
semanticscholar   +1 more source

The human gut microbiota in people with amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Objective To characterize the gut microbiota in people with amyotrophic lateral sclerosis (ALS) relative to controls and to test the hypothesis that butyrate-producing bacteria are less abundant in the gastrointestinal tracts of people with ALS (PALS ...
K. Nicholson, K. Bjørnevik, G. Abu-Ali, James Chan, Marianna Cortese, Brixhilda Dedi, M. Jeon, R. Xavier, C. Huttenhower, A. Ascherio, J. Berry   +10 more
semanticscholar   +1 more source

Circulating proteomic biomarkers for diagnosing sporadic amyotrophic lateral sclerosis: a cross-sectional study

Neural Regeneration Research
Biomarkers are required for the early detection, prognosis prediction, and monitoring of amyotrophic lateral sclerosis, a progressive disease. Proteomics is an unbiased and quantitative method that can be used to detect neurochemical signatures to aid in
Lu He, Qinming Zhou, Chaoyang Xiu, Yaping Shao, Dingding Shen, Huanyu Meng, Weidong Le, Sheng Chen   +7 more
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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Brain : a journal of neurology, 2020
Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.2 with genome-wide significant linkage in a ...
C. Dobson-Stone, C. Dobson-Stone, C. Dobson-Stone, M. Hallupp, M. Hallupp, Hamideh Shahheydari, A. Ragagnin, Zac Chatterton, Zac Chatterton, F. Carew-Jones, F. Carew-Jones, C. Shepherd, C. Shepherd, Holly Stefen, Esmeralda Paric, T. Fath, E. Thompson, E. Thompson, P. Blumbergs, C. L. Short, Colin D. Field, P. Panegyres, J. Hecker, G. Nicholson, G. Nicholson, Alex D. Shaw, Alex D. Shaw, Alex D. Shaw, J. Fullerton, J. Fullerton, A. Luty, A. Luty, P. Schofield, P. Schofield, W. Brooks, W. Brooks, N. Rajan, M. Bennett, M. F. Bennett, M. Bahlo, M. Bahlo, Shankaracharya, J. Landers, O. Piguet, J. Hodges, G. Halliday, G. Halliday, G. Halliday, S. Topp, Bradley N. Smith, C. Shaw, E. McCann, J. Fifita, K. Williams, J. Atkin, J. Atkin, I. Blair, J. Kwok, J. Kwok, J. Kwok   +59 more
semanticscholar   +1 more source

The role of some risk factors in the development and the flow of amyotrophic lateral sclerosis

Бюллетень сибирской медицины, 2009
On examination of 58 people with accurate amyotrophic lateral sclerosis the role of some risk factors in the development and the character of the flow of the disease was analyzed.
A. V. Lebedev
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Immunity in amyotrophic lateral sclerosis: blurred lines between excessive inflammation and inefficient immune responses

Brain Communications, 2020
Despite wide genetic, environmental and clinical heterogeneity in amyotrophic lateral sclerosis, a rapidly fatal neurodegenerative disease targeting motoneurons, neuroinflammation is a common finding.
Louis-Charles Béland, Andrea Markovinovic, H. Jakovac, F. De Marchi, E. Bilic, L. Mazzini, J. Kriz, Ivana Munitic   +7 more
semanticscholar   +1 more source

Amyotrophic Lateral Sclerosis.

Internal Medicine, 1995
The final cascade of amyotrophic lateral sclerosis (ALS) coincides with the onset of clinical neurological deficits and involves multifactorial interactive mechanisms. These terminal events include excitotoxicity, free radical accumulation and possibly immunological disturbances.
openaire   +2 more sources

Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis

Science, 2018
Spatiotemporal gene expression in ALS Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that affects nerve cells in the brain and the spinal cord.
Silas Maniatis, Tarmo Äijö, S. Vickovic, Catherine E. Braine, Kristy Kang, A. Mollbrink, D. Fagegaltier, Žaneta Andrusivová, Sami Saarenpää, Gonzalo Saiz-Castro, Miguel Cuevas, A. Watters, J. Lundeberg, Richard Bonneau, H. Phatnani   +14 more
semanticscholar   +1 more source

Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

Neurobiology of Disease, 2021
We previously showed that optineurin (OPTN) mutations lead to the development of amyotrophic lateral sclerosis. The association between OPTN mutations and the pathogenesis of amyotrophic lateral sclerosis remains unclear.
Takashi Kurashige, Masahito Kuramochi, Ryosuke Ohsawa, Yui Yamashita, Go Shioi, Hiroyuki Morino, Masaki Kamada, Takashi Ayaki, Hidefumi Ito, Yusuke Sotomaru, Hirofumi Maruyama, Hideshi Kawakami   +11 more
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