Results 131 to 140 of about 12,648 (296)

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

New Approaches to Scientific Realism [PDF]

open access: gold, 2020
Gonzalez, Wenceslao J.   +1 more
openalex   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler   +20 more
wiley   +1 more source

Identifying High‐Impact Solutions to Address Racial and Ethnic Health Disparities in Lupus: A Consensus‐Based Approach

open access: yesArthritis Care &Research, EarlyView.
Objective We conducted formative research aimed at identifying solutions that address inequitable health outcomes in lupus due to adverse social determinants of health (SDoH). Methods We conducted a search for keywords, which provided insights into potential solutions and initiatives underway. An advisory panel of lupus experts iteratively reviewed the
Joy Buie   +11 more
wiley   +1 more source

Perceptions About Asymptomatic Hyperuricemia and Views About Urate‐Lowering Therapy in People With Asymptomatic Hyperuricemia

open access: yesArthritis Care &Research, EarlyView.
Objective Asymptomatic hyperuricemia is a precursor of gout and is also associated with cardiovascular disease and chronic kidney disease. The aim of this study was to understand perceptions about asymptomatic hyperuricemia and views about urate‐lowering therapy in people with asymptomatic hyperuricemia. Methods Participants in a multinational study of
Nicola Dalbeth   +19 more
wiley   +1 more source

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