A disulfidptosis-related gene signature predicts prognosis and immune-metabolic landscape in multiple myeloma. [PDF]
Wang L, Wang J, Wang Y, Niu T, Zhao A.
europepmc +1 more source
A novel pyroptosis-related gene signature exhibits distinct immune cells infiltration landscape in Wilms’ tumor [PDF]
Yujun Guo +10 more
openalex +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
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.
Dennis Yeow +6 more
wiley +1 more source
Development of an ADME gene signature for prognostic and therapeutic stratification in gastric cancer. [PDF]
Wang D +6 more
europepmc +1 more source
Identification of VEGFs-related gene signature for predicting microangiogenesis and hepatocellular carcinoma prognosis [PDF]
Shengpan Jiang +9 more
openalex +1 more source
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
Identification of a Treg-related gene signature for predicting prognosis and immunosuppression in skin cutaneous melanoma. [PDF]
Lian C, Jin R, Zhang X.
europepmc +1 more source
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
A mitochondrial lipid metabolism-related gene signature predicts prognosis and immune landscape in colorectal cancer. [PDF]
Wang H +4 more
europepmc +1 more source
Gene-expression signature may be useful for the prediction of lymph node metastasis in esophageal cancer [PDF]
Yoshifumi Baba, Hideo Baba
openalex +1 more source

