Results 131 to 140 of about 5,559,088 (293)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Accelerated ageing [PDF]

Nature Reviews Neuroscience, 2005
openaire   +1 more source

Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad, Pouya Metanat, Michael Thomas, Luke W. Bonham, Tyson Lam, Mehmet Kurt, Hong Nguyen, Tara Ellingson, Mauro Zucchelli, Stefano Casagranda, Quin Lu, Andreas M. Rauschecker, Leo Sugrue, Luis E. Savastano, Christopher P. Hess, Kamalini Ranasinghe, S. Andrew Josephson, Bruce L. Miller, Jennifer S. Yokoyama, Gil D. Rabinovici, Peter A. Ljubenkov, Lawren VandeVrede, Kambiz Nael   +22 more
wiley   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Exploring DNA methylation age and the influence of physical performance, and hypertension on frailty in elderly women

Scientific Reports
Epigenetic age provides a reliable biomarker for biological aging, reflecting the cumulative impact on health over time. Frailty is common among elderly individuals and is further compounded by hypertension, which increases the risk associated with aging.
Pitaksin Chitta, Timothy M. Barrow, Busadee Pratumvinit, Atchara Dawangpa, Witchayaporn Kaewboonruang, Saliltip Khamrangsee, Viktor I. Korolchuk, Chanachai Sae-Lee   +7 more
doaj   +1 more source

Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella, Veria Vacchiano, Vittorio Velucci, Stefano Zoccolella, Rocco Liguori, Giovanni Defazio   +5 more
wiley   +1 more source

Association Between Neurofilament Light Chain and Real‐World Ambulatory Function in Progressive MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in multiple sclerosis (MS), yet associations with functional outcomes remain unclear. Longitudinal associations between serum NfL (sNfL) and daily step count (STEPS) from wearable devices were assessed in a large international progressive MS cohort.
Gabby B. Joseph, Megan McCune, Riley Bove, Ahmed Abdelhak, Bruce A. C. Cree, Valerie J. Block   +5 more
wiley   +1 more source

Accelerating Accelerometer Research in Aging [PDF]

The Journals of Gerontology: Series A, 2018
Eric J Shiroma, Jennifer A Schrack, Tamara B Harris   +2 more
openaire   +2 more sources