Results 11 to 20 of about 18,674 (229)

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study. [PDF]

Mov Disord
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Fortin J, Synofzik M, Pedneault-Tremblay ÉA, Hermle D, Thieme A, Timmann D, La Piana R, Brais B, Dolbec J, Côté I, Gagnon C, Traschütz A.   +11 more
europepmc   +2 more sources

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings. [PDF]

Ann Clin Transl Neurol
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Yeow D, Katz M, Rodgers J, Davis M, Robertson T, Gardner RJM, McCombe PA.   +6 more
europepmc   +2 more sources

Rural and Urban Disparities in Healthcare Utilization and Cost at the End-of-Life in Quebec: A Retrospective Study. [PDF]

J Rural Health
Abstract Background The end‐of‐life (EoL) is a critical period as individuals can face multiple health problems, increasing healthcare utilization and cost. Knowing that regional healthcare availability may contribute to some variations, we aimed to describe rural and urban disparities in healthcare utilization and costs during the last year of life ...
Bosson-Rieutort D, Duc J, Boulianne JF, Barbat-Artigas S, Strumpf EC.   +4 more
europepmc   +2 more sources

Opportunities for Adding Recycled Content to Primary Aluminum Products

Engineering Proceedings, 2023
Rio Tinto is a leading producer of low-carbon primary aluminum due to its efficient processes and hydroelectricity. It has one of the lowest greenhouse gas (GHG) footprints in the world, which is below four tons of CO2 per ton of primary aluminum ...
Agathe Tshipama, Vincent Goutière, Marie-Eve Pomerleau   +2 more
doaj   +1 more source

Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings

Radiology Case Reports, 2020
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by homozygous mutations in SACSgene. We present finding on MR imaging in 2 adult Italian siblings. According to the literature we have described same of
Maria Claudia Pensabene, MD, Milena Melis, MD, Laura De Corato, MD, Carla Di Stefano, MD, Giulia Pizzicannella, MD, Mariateresa Mondillo, MD, Andrea Amico, MD, Doriana Tatulli, MD, Roberto Floris, PhD.   +8 more
doaj   +1 more source

FEASIBILITY OF A COMMUNITY-BASED PHYSIOTHERAPY PROGRAM FOR CANCER PATIENTS DURING AND AFTER TREATMENTS IN SAGUENAY-LAC-SAINT-JEAN

Journal of Cancer Rehabilitation, 2022
Background Physical impairments cause an important functional decline in patient with cancer and survivor. Despite a profound need for physical therapy, many people are unable to access the required services due, in part, to the limited availability of ...
Maryane Dubois, Jean-Sébastien A. Lafond, Mohamed Abdelhafid Kadri, Sébastien Simard, José Luiz Miranda Guimaraes, Rubens A. da Silva, Sébastien S. Dufresne   +6 more
doaj   +1 more source

Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations

Stem Cell Research, 2022
Heterozygous mutations within Keratin 5 (KRT5) are common genetic causes of epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blisters, which appear after minor trauma.
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Charles Morin, Audrey Dupérée, François Gros-Louis, Catherine Laprise   +8 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations

Stem Cell Research, 2022
More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment.
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Charles Morin, Audrey Dupérée, François Gros-Louis, Catherine Laprise   +8 more
doaj   +1 more source

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American [PDF]

, 2018
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy.
Dougherty, Sean C., Haines, Scott R., Harper, Amy, Saif, Hind Al, Vorona, Gregory   +4 more
core   +2 more sources

It's time to take a sustainable approach to health care in the face of the challenges of the 21st century

One Health, 2023
Health challenges in the 21st century have become increasingly complex and global. The recent COVID-19 pandemic has only exacerbated the many problems faced by health care systems around the world and sadly, exposed various flaws. With ageing populations,
Catherine Laprise
doaj   +1 more source