Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Exploring considerations for becoming a GP practice owner: a qualitative study. [PDF]
BJGP OpenStegeman HA +6 more
europepmc +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals 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
Antimicrobial Resistance in Somalia: A Silent Public Health Crisis Demanding Immediate Action. [PDF]
Infect Drug ResistJimale AM +4 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye +11 more
wiley +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals 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
Psychometric properties and factor structure of the short form of the cyberchondria severity scale (CSS-12) amongst Indian adults. [PDF]
Indian J PsychiatryDharshini R +3 more
europepmc +1 more source
CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang +6 more
wiley +1 more source
Qualitative Study of Men's Experiences of Becoming a Father for the First-Time in Pakistan: A Critical Realist Perspective. [PDF]
Am J Mens HealthZindani S +3 more
europepmc +1 more source
Impact of Asymptomatic Intracranial Hemorrhage on Outcome After Endovascular Stroke Treatment
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Endovascular treatment (EVT) achieves high rates of recanalization in acute large‐vessel occlusion (LVO) stroke, but functional recovery remains heterogeneous. While symptomatic intracranial hemorrhage (sICH) has been well studied, the prognostic impact of asymptomatic intracranial hemorrhage (aICH) after EVT is less certain ...
Shihai Yang +22 more
wiley +1 more source