Results 181 to 190 of about 1,309,317 (348)

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein   +13 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

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

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

A Scoping Review on Artificial Intelligence–Supported Interventions for Nonpharmacologic Management of Chronic Rheumatic Diseases

open access: yesArthritis Care &Research, EarlyView.
This review summarizes artificial intelligence (AI)‐supported nonpharmacological interventions for adults with chronic rheumatic diseases, detailing their components, purpose, and current evidence base. We searched Embase, PubMed, Cochrane, and Scopus databases for studies describing AI‐supported interventions for adults with chronic rheumatic diseases.
Nirali Shah   +5 more
wiley   +1 more source

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

open access: yesArthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli   +8 more
wiley   +1 more source

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