Results 121 to 130 of about 5,031 (182)

The impact of underwater waves on ship manoeuvrability: a case study in a fjord. [PDF]

Sci Rep
Grégorio S, Bourgault D, Galbraith PS, Chavanne C, Hupé L, Richard A, Landry É.   +6 more
europepmc   +1 more source

Unbiased characterization of COVID-19 endotypes leads to prognostication of high-risk individuals using routine blood tests. [PDF]

Commun Med (Lond)
Ma W, Soulé A, Allard C, Durand M, Tremblay K, Rousseau S, Emad A.   +6 more
europepmc   +1 more source

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay. [PDF]

BMC Med Genomics
Liu H, Li R, Chen C, Shang L, Bai Y, Chen D, Kong X, Li Q.   +7 more
europepmc   +1 more source

Large-scale Proteomics Profiling of Peripheral Blood of DM1 patients identifies biomarkers for disease severity and functional capacity

van As D, Claeys T, Salz R, van Haver D, Dufour S, van Beelen A, Gloerich J, Gabriels R, Volders PJ, Dobelmann V, Gangfuss A, Ruck T, Gourdon G, Duchesne E, Gagnon C, Roos A, van Gool A, Impens F, Martens L, Lochmuller H, Schoser B, Bassez G, van Engelen BG, 't Hoen PA.   +23 more
europepmc   +1 more source

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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.
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

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