Results 191 to 200 of about 3,611,588 (270)
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Quality of life of low-vision patients and the impact of low-vision services
, 1999 Ingrid U. Scott +4 more
openalex +1 more source
Factors in the quality of patient evaluations in general hospital psychiatric emergency services [PDF]
, 1995 Steven P. Segal +4 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Drug Prescribing in Rural Health Facilities in China: Implications for Service Quality and Cost [PDF]
, 1998 Shaokang Zhan +3 more
openalex +1 more source
Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar +7 more
wiley +1 more source
Home‐Based Tele‐tDCS in Amyotrophic Lateral Sclerosis: Feasibility, Safety, and Preliminary Efficacy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with limited treatment options. Transcranial direct current stimulation (tDCS) shows promise as a neuromodulatory intervention in various neurological disorders, but its application in ALS, particularly in a remote, home‐based format, remains underexplored.
Sangeetha Madhavan +6 more
wiley +1 more source