Results 171 to 180 of about 6,464 (226)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Neuropathology, 2006
Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) was originally found among the inhabitants of the Charlevoix‐Saguenay region of Quebec, Canada. This disease is characterized by early‐onset ataxia, spasticity, peripheral neuropathy, finger and foot deformities, and hypermyelination of the retinal nerve fibers.
Yoshihisa Takiyama
exaly   +3 more sources

The Savage Saguenay

2023
Up these black waters, over a hundred miles — always strong, deep, (hundreds of feet, sometimes thousands,) ever with high, rocky hills for banks, green and gray — at times a little like some parts of the Hudson, but much more pronounc’d and defiant.
openaire   +1 more source

Saguenay Risk Management

2017
The city of Saguenay, in the province of Quebec, is located in an area with a hilly topography and where sensitive marine clays are predominant. The slopes throughout the city are either former riverbanks or scarps of old large retrogressive landslides and their height can vary from a few meters to dozens of meters.
Janelle Potvin, R. Mompin, Catherine Thibault, Denis Demers, Chantal Bilodeau, L. Desbiens   +5 more
openaire   +1 more source

Is the ataxia of Charlevoix–Saguenay a developmental disease?

Medical Hypotheses, 2011
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy.
José, Gazulla, Ana Carmen, Vela, Miguel Angel, Marín, Luis, Pablo, Filippo Maria, Santorelli, Isabel, Benavente, Pedro, Modrego, María, Tintoré, José, Berciano   +8 more
openaire   +2 more sources

New findings in the ataxia of Charlevoix–Saguenay

Journal of Neurology, 2011
The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix-Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations.
José, Gazulla, Isabel, Benavente, Ana Carmen, Vela, Miguel Angel, Marín, Luis Emilio, Pablo, Alessandra, Tessa, María Rosario, Barrena, Filippo Maria, Santorelli, Claudia, Nesti, Pedro, Modrego, María, Tintoré, José, Berciano   +11 more
openaire   +2 more sources

Sill Processes in the Saguenay Fjord

2020
<p>The Saguenay Fjord is a 110 km long and 250 m deep (max depth) multi-silled glacial valley that connects the Saguenay River at its head with the St. Lawrence Estuary at its mouth. The bathymetry is characterized with 3 sills: a shallow 20-m deep sill at the mouth, an intermediate 60-m deep 20 km landward sill and a deep 120-m ...
Jérôme Guay, Daniel Bourgault, Cynthia Bluteau, Cédric Chavanne, Peter Galbraith, Louis Gostiaux   +5 more
openaire   +1 more source

The Saguenay earthquake

1989
Aussi disponsible en francais: Séisme au ...
Allen, D. E., Maurenbrecher, A. H. P.
openaire   +1 more source

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

Neuromuscular Disorders, 1998
A form of autosomal recessive spastic ataxia unique to the Charlevoix-Saguenay area was clinically identified 20 years ago in patients from that region. This region of Québec, Canada, was once considered a genetic isolate. First noted at gait initiation, signs of ataxia slowly progress along with spasticity of the four limbs, slurred speech, and ...
J P, Bouchard, A, Richter, J, Mathieu, D, Brunet, T J, Hudson, K, Morgan, S B, Melançon   +6 more
openaire   +2 more sources

PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Neurology, 2010
Spastic ataxia of Charlevoix-Saguenay (ARSACS, MIM 270550) is an early-onset neurodegenerative disease characterized by mild to moderate early-onset ataxia, spastic paraparesis, sensory motor neuropathy in the lower limbs, and almost invariably atrophy of the upper cerebellar vermis on brain MRI.1 Autosomal recessively inherited mutations in SACS have ...
Terracciano, A., Foulds, N.C., Ditchfield, A., Bunyan, D.J., Crolla, J.A., Huang, S., Santorelli, F.M., Hammans, S.R.   +7 more
openaire   +3 more sources

Variabilité génétique au Saguenay

1999
Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.
openaire   +1 more source