Results 151 to 160 of about 191,476 (314)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

Updates on the conversion of nanosuspensions to solid oral dosage forms. [PDF]

open access: yesJ Food Drug Anal
Tsiaxerli A   +5 more
europepmc   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah   +4 more
wiley   +1 more source

Bioavailability Enhancement and Formulation Technologies of Oral Mucosal Dosage Forms: A Review. [PDF]

open access: yesPharmaceutics
Bácskay I   +10 more
europepmc   +1 more source

Inhalation Dosage Forms: A Focus on Dry Powder Inhalers and Their Advancements. [PDF]

open access: yesPharmaceuticals (Basel), 2023
Magramane S   +6 more
europepmc   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang   +5 more
wiley   +1 more source

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