Gonçalves, Filipe Teixeira, Margarida I Magalhães, Bruno
Published in
Palliative & supportive care
There are few studies evaluating the role of spirituality and the role of spiritually integrated interventions in people with amyotrophic lateral sclerosis (PALS) and their caregivers. A scoping review was conducted to examine the nature and breadth of peer-reviewed literature on the role of spirituality, interventions integrating spirituality, and...
Rebelo, Adriana P Ruiz, Ariel Dohrn, Maike F Wayand, Melanie Farooq, Amjad Danzi, Matt C Beijer, Danique Aaron, Brooke Vandrovcova, Jana Houlden, Henry
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Published in
Genetics in medicine : official journal of the American College of Medical Genetics
The chaperone protein BiP is the master regulator of the unfolded protein response in the endoplasmic reticulum. BiP chaperone activity is regulated by the post-translational modification AMPylation, exclusively provided by FICD. We investigated whether FICD variants identified in patients with motor neuron disease could interfere with BiP activity...
Bartlett, Rachael Ly, Diane Cashman, Neil R Sluyter, Ronald Yerbury, Justin J
Published in
Purinergic signalling
Mutant superoxide dismutase 1 (SOD1) can be constitutively released from motor neurons and transmitted to naïve motor neurons to promote the progression of amyotrophic lateral sclerosis (ALS). However, the biological impacts of this process and the precise mechanisms of SOD1 release remain to be fully resolved. Using biochemical and fluorescent tec...
Finegan, Eoin Siah, We Fong Li Hi Shing, Stacey Chipika, Rangariroyashe H Hardiman, Orla Bede, Peter
Published in
Amyotrophic lateral sclerosis & frontotemporal degeneration
While primary lateral sclerosis (PLS) has traditionally been regarded as a pure upper motor neuron disorder, recent clinical, neuroimaging and postmortem studies have confirmed significant extra-motor involvement. Sporadic reports have indicated that in addition to the motor cortex and corticospinal tracts, the cerebellum may also be affected in PL...
Lisiecka, Dominika Kearns, Aine Bourke, Fiona Lawson, Ian Muir, Cath
Published in
Disability and rehabilitation
The lived experiences of a gastrostomy tube (GT) in adults with neurodegenerative diseases (NDDs) are not well understood. The aim of this qualitative meta-synthesis was to review and synthesise the available evidence to inform clinical practice and identify research gaps. Meta-ethnographic synthesis of qualitative studies was conducted with system...
Cluse, Florent Bernard, Emilien Strubi-Vuillaume, Isabelle Devos, David Mouzat, Kevin Lumbroso, Serge Froment Tilikete, Caroline Thobois, StÉphane Pegat, Antoine
Published in
Amyotrophic lateral sclerosis & frontotemporal degeneration
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant hereditary neurodegenerative disease caused by the expansion of a CAG-repeat in the ataxin-7 (ATXN7) gene, usually characterized by progressive cerebellar ataxia and retinal dystrophy. We report the case of a 45-year-old woman presenting with a rapid-onset amyotrophic lateral sclerosis (...
Tse, Nga Yan Tu, Sicong Chen, Yu Caga, Jashelle Dobson-Stone, Carol Kwok, John B Halliday, Glenda M Ahmed, Rebekah M Hodges, John R Piguet, Olivier
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Published in
Journal of neurology
Psychiatric presentations similar to that observed in primary psychiatric disorders are well described across the amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) spectrum. Despite this, schizotypal personality traits associated with increased risks of clinical psychosis development and poor psychosocial outcomes have never been exam...
Helleman, Jochem Bakers, Jaap N E Pirard, Evelien van den Berg, Leonard H Visser-Meily, Johanna M A Beelen, Anita
Published in
Journal of neurology
Home-monitoring of spirometry has the potential to improve care for patients with a motor neuron disease (MND) by enabling early detection of respiratory dysfunction and reducing travel burden. Our aim was to evaluate the validity and feasibility of home-monitoring vital capacity (VC) in patients with MND. We included 33 patients with amyotrophic l...
Bersano, Enrica Manera, Umberto Huynh, William
Published in
Frontiers in Neurology
Fiorentino, Giuseppe Mazza, Mariano Esquinas, Antonio M
Published in
Chronic Respiratory Disease
