Results 21 to 30 of about 84,495 (257)

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

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 and cerebellum

Scientific Reports, 2022
AbstractAmyotrophic lateral sclerosis (ALS) is a devastating, heterogeneous neurodegenerative neuromuscular disease that leads to a fatal outcome within 2–5 years, and yet, a precise nature of the association between its major phenotypes and the cerebellar role in ALS pathology remains unknown.
Kabiljo, R, Iacoangeli, A, Al-Chalabi, A, Rosenzweig, I   +3 more
openaire   +4 more sources

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

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

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

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Cervical spinal cord atrophy in amyotrophic lateral sclerosis across disease stages

Annals of Clinical and Translational Neurology, 2023
Objective Spinal cord degeneration is a hallmark of amyotrophic lateral sclerosis. The assessment of gray matter and white matter cervical spinal cord atrophy across clinical stages defined using the King's staging system could advance the understanding ...
Anna Nigri, Eleonora Dalla Bella, Stefania Ferraro, Jean Paul Medina Carrion, Greta Demichelis, Enrica Bersano, Monica Consonni, Antje Bischof, Mario Stanziano, Sara Palermo, Giuseppe Lauria, Maria Grazia Bruzzone, Nico Papinutto   +12 more
doaj   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis

Data in Brief, 2020
A standardised, single-centre, longitudinal imaging protocol was used to evaluate longitudinal brainstem alterations in 100 patients with amyotrophic lateral sclerosis (ALS) with reference to 33 patients with primary lateral sclerosis (PLS), 30 patients ...
Peter Bede, Rangariroyashe H. Chipika, Eoin Finegan, Stacey Li Hi Shing, Kai Ming Chang, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Siobhan Hutchinson, Colette Donaghy, Russell L. McLaughlin, Orla Hardiman   +11 more
doaj   +1 more source