Results 191 to 200 of about 2,328,556 (303)

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, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Adverse Childhood Experiences and Health at Age 50 Years in the National Child Development Study.

JAMA Netw Open
Timmins KA, MacDonald R, Beasley M, Macfarlane GJ.   +3 more
europepmc   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Brief Report: Is Gestational Exposure to HIV and Protease Inhibitors Associated With Timing of Pubertal Onset? [PDF]

J Acquir Immune Defic Syndr
Serghides L, Lee J, Jacobson DL, Geffner ME, DiMeglio LA, McFarland EJ, Powis KM, Williams PL, Jao J, Pediatric HIV/AIDS Cohort Study.   +9 more
europepmc   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Predictors of carotenoid status in New Zealand children using carotenoid reflection score: a cross-sectional study. [PDF]

Asia Pac J Clin Nutr
Rapson J, Rush E, McLean R, Fuavao K, Wall C, Eyles H.   +5 more
europepmc   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Genetic Risk and Transition Through Preclinical Stages of Type 1 Diabetes. [PDF]

J Clin Endocrinol Metab
Steck AK, Parikh HM, Triolo TM, Ferrat L, You L, Gottlieb PA, Oram RA, Onengut-Gumuscu S, Krischer JP, Rich SS, Redondo MJ.   +10 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Type 2 Diabetes Genetic Risk and Type 1 Diabetes Heterogeneity and Progression. [PDF]

Diabetes
Triolo TM, Sosenko JM, Cuthbertson D, Oram RA, Parikh HM, Steck AK, Sims EK, Jacobsen LM, Nathan B, Templeman EL, Onengut-Gumuscu S, Evans-Molina C, Rich SS, Atkinson MA, Redondo MJ, Type 1 Diabetes TrialNet Study Group*.   +15 more
europepmc   +1 more source