Results 281 to 290 of about 197,800 (388)

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Maple syrup urine disease (MSUD) is a rare, autosomal recessive metabolic disorder resulting from a deficiency of the branched‐chain α‐ketoacid dehydrogenase complex. This leads to the accumulation of branched‐chain amino acids and their corresponding ketoacids, causing acute metabolic crises and progressive neurological damage if untreated ...
Reham Khalaf‐Nazzal, Huthaifa Haj‐Ahmad, Jana Zaid, Mohammed AbuShamleh, Imad Dweikat   +4 more
wiley   +1 more source

Impact of regional white matter hyperintensity patterns on cognitive trajectories in NACC. [PDF]

Alzheimers Dement
Rotblatt LJ, Edwards L, Erani F, Terao CM, Bangen KJ, Thomas KR.   +5 more
europepmc   +1 more source

Cerebral Venous Outflow Insufficiency: A Study on Symptoms and Venous Stenosis Classification

MedComm, Volume 7, Issue 3, March 2026.
Cerebral venous outflow insufficiency (CVOI) predominantly consists of 10 cerebral venous congestion symptoms. Based on the traditional classification according to imaging features, this study classified CVOI into intracranial (CV), extracranial (JV), and tandem (CJV) types, which better reflect the imaging features and pathological types of patients ...
Hui Li, Xiaojiao Guan, Lu Liu, Chunxiao Lu, Weiyue Zhang, Yifan Zhou, Huimin Jiang, Chenxia Zhou, Jian Dong, Xunming Ji, Chen Zhou   +10 more
wiley   +1 more source

Associations of high-sensitivity C-reactive protein with neuropsychological outcomes and cerebral white matter hyperintensities in older adults at risk of dementia

Rachael Yu, Shawn D.X. Kong, Catriona Ireland, Genevieve Z. Steiner-Lim, Kimberley Bassett, Hannes Almgren, Dongang Wang, Chenyu Wang, Johannes C. Michaelian, Sharon L. Naismith   +9 more
openalex   +1 more source

Supplementary Material for: White Matter Hyperintensities and Functional Outcomes at 2 Weeks and 1 Year after Stroke

, 2013
HR Kang, Robert Stewart, Mi‐Suk Park, Kyung‐Yeol Bae, Saeryun Kim, J.-M. Kim, Il‐Seon Shin, Kyung‐Hee Cho, J.S. Yoon   +8 more
openalex   +1 more source

Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 600-610, March 2026.
Abstract Background Several movement disorders (MD) have been reported to occur in neuromyelitis optica spectrum disorder (NMOSD). No extensive review has addressed the whole spectrum of MD in NMOSD. Objective This article aims to review MD in NMOSD, describing its prevalence and features.
Luciana A.F. Bringel, Pedro L.G.S.B. Lima, Pedro V.F. Rodrigues, Francisco L.H.B. Cavalcante, Amanda R. Pinheiro, Fabricia M.S. Saraiva, Cynthia P. Rodrigues, Paulo V.S. Gonçalves, Leonardo J.R.A. Melo, Antônio E. Camelo‐Filho, Avelino M. Dutra‐Junior, Samuel R.O. Veras, Fernanda M.M. Carvalho, Flávia P.S. Rolim, Gabriela J. Martins, José A.C. D'Almeida, Pedro Braga‐Neto, Milena S. Pitombeira, Paulo R. Nobrega   +18 more
wiley   +1 more source

Generalization of Optimal Control Saturation Pulse Design for Robust and High CEST Contrast

Magnetic Resonance in Medicine, Volume 95, Issue 3, Page 1360-1374, March 2026.
ABSTRACT Purpose Optimal control (OC) chemical exchange saturation transfer (CEST) pulse design for singular pulses that can be used flexibly and robustly with high saturation at different duty cycles, saturation durations, and magnetic field strengths. Theory and Methods An OC framework was developed to design a single‐pulse shape that can be flexibly
Clemens Stilianu, Markus Huemer, Moritz Zaiss, Rudolf Stollberger   +3 more
wiley   +1 more source

Neuropathological links between plasma p-Tau 181, white matter hyperintensity, and structural brain changes in aging. [PDF]

Quant Imaging Med Surg
Wei L, Zhang W, Lu J, Liu D, Li X, Liu G, Yang H, Wang H, Zhu Z, Li X, Zhang X, Bai B, Zhang B.   +12 more
europepmc   +1 more source