Results 291 to 300 of about 2,062,667 (361)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Exploring the impact of financial globalization, good governance and renewable energy consumption on environmental pollution: Evidence from BRICS-T countries. [PDF]

Heliyon
Lu R, Yang Y, Liu J, Ayub A.
europepmc   +1 more source

The burden of intracranial atherosclerosis on cerebral small vessel disease: A community cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah, Heng Du, Wenjie Yang, Huixing Zeng, Jason Tsz Lok Chan, Michael Lung Cheung Lo, Xiangyan Chen   +6 more
wiley   +1 more source

Exploring the impact of renewable energy, green taxes and trade openness on carbon neutrality: New insights from BRICS countries. [PDF]

Heliyon
Li Y, Liu J, Li Y.
europepmc   +1 more source

LEARNING FROM BELOW: THEORISING GLOBAL GOVERNANCE THROUGH ETHNOGRAPHIES AND CRITICAL REFLECTIONS FROM THE GLOBAL SOUTH

, 1969
Sujith Xavier
openalex   +2 more sources

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Globalization: Embracing global citizenship and the right to migrate. [PDF]

J Family Med Prim Care
Bhattacharya S.
europepmc   +1 more source

High‐Fat and Low‐Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dietary manipulations like ketogenic diets are established interventions for recalcitrant epilepsy. However, it remains unknown whether specific macronutrient exposure through dietary environments could possibly extend to primary preventive qualities, associated with changes in epilepsy disease burden (prevalence and incidence).
Duan Ni, Alistair Senior, David Raubenheimer, Stephen J. Simpson, Ralph Nanan   +4 more
wiley   +1 more source

"Doctor, I Want to Be Like This!": Exploring Global Beauty Body Standards Through a Multicenter Survey. [PDF]

Plast Reconstr Surg Glob Open
Tambasco D, Mir J, Hoyos A, Sieber D, Viaro M, Zamora J, Manfrim C, Zara E, Tomaselli F, Montes C, Isola M, De Martino M, Parodi PC, Albanese R, Mendanha M.   +14 more
europepmc   +1 more source

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source