Results 121 to 130 of about 1,443,115 (261)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Proper Names and Proper Pronunciation in Shakespeare's Plays
Names, 1987 Leonard R.N. Ashley
doaj +1 more source
An Inferentialist Account of Proper Names
Studia SemiotyczneDOI: https://doi.org/10.26333/sts.xxxvii1.03 In this paper, I defend an inferentialist account of proper names. After a review of how the account works in the framework of Robert Brandom’s inferentialism, I focus on two objections. The first one, from
Rusong Huang
doaj
, 1900 F majorAndanteThere's a voice that I enshrine (Una voce poco fa ...
Rossini, Gioacchino, 1792-1868 +1 more
core
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Wǔxiá and Genre Names in Mandarin
NamesThe goal of this paper is to offer an analysis of the Mandarin genre name Wǔxiá, a name usually referring to a Chinese genre of narratives involving martially skilled protagonists and heroic deeds.
Francesco-Alessio Ursini +2 more
doaj +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Entry words for Indonesian names [PDF]
, 2003 Catalog is a representative of document and Entry Name is one of important part of catalog. For cataloguing purpose, Indonesian librarians used the Peraturan penentuan nama-nama Indonesia (Rules for Indonesian names) published by National Scientific ...
Sulistyo-Basuki, L
core +1 more source
Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias +3 more
wiley +1 more source