RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Institutional change, regional features and aggregate performance in eight EU’s transition countries [PDF]
The aim of this paper is to throw some light on the main differences/similarities and dynamics in institutional frameworks, regional/sectoral features and aggregate performances in the eight transition countries that became EU members in May 2004 (8 ...
Marcello Signorelli, Enrico Marelli
core
The patient as teacher: a four-phase blueprint for institutional change. [PDF]
Front Health ServWollmann L, Wolf A, Cooke L, Santana M.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Which conceptual foundations for environmental policies? An institutional and evolutionary framework of economic change [PDF]
This paper draws on institutional and evolutionary economics and contributes to an approach to environmental policy which diverges from mainstream prescriptions.
Marletto, Gerardo
core
PULSE: the transformative power of sustained engagement and collaboration to catalyze institutional change. [PDF]
Front SociolWithers MD +7 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Institutions, Institutional Change, Strategic Assets and Competitive Advantage of American and French Film Industries (1895-1998) [PDF]
This paper uses neo-institutional economics (I.E.) to examine why French film production firms have lost their competitive advantage to their American competitors from 1895 to 1998. I.E. posits that major institutional changes result in changes in firms'
GHERTMAN, Michel, HADIDA, Allegre L.
core
Evaluating equity interventions and the limits of institutional change: from admission to clinical leadership in UK medical education. [PDF]
Front Med (Lausanne)Kulimushi C, Cowen R.
europepmc +1 more source