Results 131 to 140 of about 970,806 (282)

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons   +31 more
wiley   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller   +6 more
wiley   +1 more source

Disability Evaluation in Japan

open access: yesJournal of Korean Medical Science, 2009
To examine the current state and social ramifications of disability evaluation in Japan, public data from Annual Reports on Health and Welfare 1998-1999 were investigated. All data were analyzed based on the classification of disabilities and the effects of age-appropriate welfare services, which have been developed through a half-century of ...
openaire   +2 more sources

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa   +10 more
wiley   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman   +9 more
wiley   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda   +12 more
wiley   +1 more source

ECONOMIC EVALUATION OF NEWBORN HEARING SCREENING PROCEDURES [PDF]

open access: yes
In the past few years, there has been a growing interest in the medical literature about the study of the different existing screening procedures to detect hearing impairment in infants and young children.
Carmen Herrero Blanco   +1 more
core  

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan   +3 more
wiley   +1 more source

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