Results 121 to 130 of about 356,607 (357)
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
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
Rechtsbescherming van Mensenrechten in Nederland: Mag het een Onsje Meer zijn? [PDF]
, 2011 Sinds de aanvaarding van de Universele Verklaring voor de Rechten van de Mens in 1948 heeft het internationale recht ten aanzien van mensenrechten een enorme vlucht genomen.
Arts, K. (Karin)
core +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
Het graanziekteonderzoek in Nederland: kaalslag in de polder (2) [PDF]
, 2002 Geschiedenis, verworvenheden en bedreiging van het nationale graanziekteonderzoek (roest in tarwe) in Nederland. Rubrieken in dit artikel: 1) Resistentieonderzoek; 2) Certificering en inputreductie; 3) Ziekteninventarisatie.
Kema, G.H.J.
core +1 more source
Meningovascular Inflammation in Cerebral Amyloid Angiopathy‐Related Cortical Superficial Siderosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The role of inflammation in cortical superficial siderosis (cSS), a marker of cerebral amyloid angiopathy (CAA) linked to high hemorrhage risk, is unclear. We examined 15 patients with cSS using 3 T post‐contrast vessel wall MRI (VWI) and CSF analysis.
Philipp Arndt +8 more
wiley +1 more source
What Happened to Wage and Non-Employment Structures During the ‘Dutch Employment Miracle’? [PDF]
The Netherlands have experienced an employment miracle since the 1980s. This note investigates what happened to the wage, unemployment, and non-employment structures between 1988 and 1998, when both unemployment and non-employment rates decreased ...
Patrick A. Puhani
core
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals 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
Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett +8 more
wiley +1 more source