Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel+10 more
wiley +1 more source
DENDRITIC CELL DIFFERENTIATION BLOCKED BY PRIMARY EFFUSION LYMPHOMA-RELEASED FACTORS IS PARTIALLY RESTORED BY INHIBITION OF P38 MAPK [PDF]
To better understand the molecular mechanisms underlying the dendritic cell (DC) defects in cancer, we analyzed which signaling pathway is implicated in the abnormal monocyte differentiation into DC determined by the presence of Primary effusion lymphoma
CIRONE, Mara+6 more
core +2 more sources
Tooth rooth abnormalities in twins
The occurrence of fused roots, pyramidal tooth form and taurodontism in the first and second permanent molars was studied on orthopantomograms in 96 twin pairs. The aim of the study was to analyze the prevalence of the mentioned abnormalities as related to the twin pair zygosity.
Šlaj, Mladen+4 more
openaire +1 more source
Early synapsids neurosensory diversity revealed by CT and synchrotron scanning
Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit+6 more
wiley +1 more source
Caracterización de pacientes con hipodoncia atendidos en el policlínico “Guillermo Tejas”
Fundamento: oligodoncia, anodoncia, hipodoncia, son términos que se utilizan indistintamente para referirse a la ausencia de uno o más dientes, es importante considerar que puede traer consigo afectaciones clínicas, ya sean funcionales, psicológicas y ...
Delarays Ossani Pérez Alfonso+3 more
doaj
Evaluation of Canine Transpositions and Related Dental Anomalies in a Turkish Pediatric Population
Objective: To investigate the prevalence and characteristics of canine transpositions and to evaluate associated dental anomalies in a pediatric population.
Esra Oz, Zuhal Kırzıoglu
doaj
Trigeminal neuralgia - diagnosis and treatment [PDF]
Introduction Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain.
Bendtsen, Lars+3 more
core +1 more source
Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis [PDF]
Sungeun Hwang+9 more
openalex +1 more source
Variability of jaw muscles in Tunisian street dogs and adaptation to skull shape
Abstract The impact of artificial selection on the masticatory apparatus of dogs has been poorly studied, and comparative data with dogs subjected to more natural constraints are lacking. This study explores the jaw musculature of Tunisian street dogs, which are largely free from the influence of breed‐specific selection.
Colline Brassard+3 more
wiley +1 more source
Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature [PDF]
Ivana Frongia+9 more
openalex +1 more source