Results 181 to 190 of about 421,641 (311)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Computerized cognitive rehabilitation in patients with multiple sclerosis (MS): A systematic review and meta-analysis. [PDF]

open access: yesCaspian J Intern Med
Naser Moghadasi A   +4 more
europepmc   +1 more source

Predictors of Catching COVID-19 Infection during Pandemic Stage in Patients with Multiple Sclerosis (MS). [PDF]

open access: yesInt J Prev Med, 2022
Ghajarzadeh M   +5 more
europepmc   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti   +14 more
wiley   +1 more source

Modeling chronic periodontitis in rats: Persistent alveolar bone loss mediated by periodontal pathogens

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Irrigation of periodontal pockets with human periopathogens, in combination with a 14‐day ligature‐induced periodontitis protocol, significantly enhances alveolar bone loss and sustains bacterial colonization for up to 28 days following ligature removal, thereby more closely replicating the chronic nature of human periodontitis compared to the ligature
Maksym Skrypnyk   +4 more
wiley   +1 more source

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud   +3 more
wiley   +1 more source

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