Results 171 to 180 of about 12,634,313 (292)

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang   +13 more
wiley   +1 more source

AMČR - projekt C-202504197

open access: yes
Stav: 6Podnět: Stavba rodinného domu - skrývka ornice a kopaní základových pasuOznačení stavby: ID ZÁMĚRU: Z/2025/9881 ČÍSLO JEDNACÍ: MUPT/7166/2025/Pech SPIS.

core  

Exploratory In Silico Evaluation of Microencapsulation Matrices for Indomethacin. [PDF]

open access: yesMolecules
Vargas Rubio KI   +9 more
europepmc   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic   +7 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß   +22 more
wiley   +1 more source

Aging with intellectual disabilities: a study in Portugal about clinical conditions, functionality, and frailty. [PDF]

open access: yesFront Hum Neurosci
Letra M   +6 more
europepmc   +1 more source

Automatic Lesion Morphometrics Reliably Predict Sensorimotor Recovery After Spinal Cord Injury: A Longitudinal, Multicenter Neuroimaging Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate automatic magnetic resonance imaging (MRI)‐derived lesion morphometrics against manual measurements and their prognostic value for characterizing distinct acute to chronic neurological recovery trajectories after spinal cord injury (SCI). Methods We studied a retrospective, multicenter cohort of cervical and thoracolumbar
Dario Pfyffer   +28 more
wiley   +1 more source

Id. Id. de Ancud

open access: yesAnales de la Universidad de Chile, 2010
openaire   +1 more source

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