Results 41 to 50 of about 1,041,663 (304)

Bridging Silence: A Scoping Review of Technological Advancements in Augmentative and Alternative Communication for Amyotrophic Lateral Sclerosis

Sclerosis
Background: Amyotrophic lateral sclerosis (ALS) progressively impairs motor function, compromising speech and limiting communication. Augmentative and alternative communication (AAC) is essential to maintain autonomy, social participation, and quality of
Filipe Gonçalves, Carla S. Fernandes, Margarida I. Teixeira, Cláudia Melo, Cátia Dias   +4 more
doaj   +1 more source

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan, Sullivan, Gareth; id_orcid   +57 more
core   +1 more source

At-home wearables and machine learning sensitively capture disease progression in amyotrophic lateral sclerosis

Nature Communications, 2023
Amyotrophic lateral sclerosis causes degeneration of motor neurons, resulting in progressive muscle weakness and impairment in motor function. Promising drug development efforts have accelerated in amyotrophic lateral sclerosis, but are constrained by a ...
Anoopum S. Gupta, Siddharth Patel, Alan Premasiri, Fernando Vieira   +3 more
doaj   +1 more source

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability [PDF]

, 2015
This work has been supported by: Motor Neurone Disease Association (G.B.M., S.C. and C.E.S.); Euan MacDonald Centre (G.B.M. and S.C.); European Research Council (L.V.); Cambridge Hospitals National Institute for Health Research Biomedical Research Center
Foster, Joshua D., Shaw, Christopher E., Cleary, Elaine M., Cleary, Elaine M, Foster, Joshua D, Miles, Gareth B, Devlin, Anna-Claire, Geti, Imbisaat, Cleary, Elaine Marie, Miles, Gareth B., Borooah, Shyamanga, Devlin, Anna Claire, Shaw, Christopher E, Vallier, Ludovic, Burr, Karen, Chandran, Siddharthan, Miles, Gareth B; id_orcid   +16 more
core   +1 more source

Spinal Cord Atrophy Correlates With Disease Duration And Severity In Amyotrophic Lateral Sclerosis

, 2015
Our objective was to investigate spinal cord (SC) atrophy in amyotrophic lateral sclerosis (ALS) patients, and to determine whether it correlates with clinical parameters.
De Andrade H.M.T., Branco L.M.T., De Albuquerque M., Bergo F.P.G., Nucci A., Franca Jr. M.C.   +5 more
core   +2 more sources

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
doaj   +1 more source

Amyotrophic lateral sclerosis – a motor neuron disease. Case report [PDF]

, 2015
Amyotrophic lateral sclerosis, also known as Charcot’s disease and motor neuron disease, is a progressive neurodegenerative disease that causes muscle weakness, paralysis, and ultimately, respiratory failure.
Maja Rubinowicz-Zasada, Jarosław Pasek, Orczyk, Aneta, Pasek, Jarosław, Rubinowicz-Zasada, Maja, Marek Orczyk, Aneta Orczyk, Orczyk, Marek   +7 more
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Pain in amyotrophic lateral sclerosis

Клиническая практика, 2019
In this review, we discuss different aspects of pain syndrome in patients with amyotrophic lateral sclerosis: etiology, incidence, pathophysiology and main clinical features.
Vladislav B. Voitenkov, E. V. Ekusheva
doaj   +1 more source

A patient with amyotrophic lateral sclerosis and atypical clinical and electrodiagnostic features: a case report

Journal of Medical Case Reports, 2011
Introduction Amyotrophic lateral sclerosis is a rapidly progressive, fatal neurodegenerative disorder for which there is no effective treatment. The diagnosis is dependent on the clinical presentation and consistent electrodiagnostic studies.
Venizelos Alexander, Park Youngsook, Fisher Morris A   +2 more
doaj   +1 more source

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice [PDF]

, 2005
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition characterized by motoneuron degeneration and muscle paralysis. Although the precise pathogenesis of ALS remains unclear, mutations in Cu/Zn superoxide dismutase (SOD1) account for
Dairin Kieran, Martin, J, Joanne Martin, Schiavo, G, Giampietro Schiavo (107907), Dick, JRT, Greensmith, L., Joanne Martin (11260388), Bohnert, S, Hafezparast, M., Elizabeth M.C. Fisher, Fisher, EMC, Linda Greensmith, Stephanie Bohnert (16066082), Martin, J., Majid Hafezparast (4461484), Fisher, E.M.C., James R T Dick (16066085), Majid Hafezparast, Greensmith, L, Linda Greensmith (252146), Giampietro Schiavo, Kieran, D., Bohnert, S., Stephanie Bohnert, James R.T. Dick, Dairin Kieran (7953794), Dick, J.R.T., Kieran, D, Hafezparast, M, Schiavo, G., Elizabeth M C Fisher (16062626)   +31 more
core   +1 more source