Results 261 to 270 of about 66,395 (336)

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy. [PDF]

J Inherit Metab Dis
Fels-Palesandro H, Hörster F, Haas D, Gleich F, Garbade SF, Kölker S, Harting I.   +6 more
europepmc   +1 more source

Morphological Changes and MRI Characteristics of the Achilles Tendon in Amateur Marathon Runners With Different Running Experience

Journal of Foot and Ankle Research, Volume 19, Issue 1, March 2026.
ABSTRACT Background With the escalating popularity of marathon running, Achilles tendon injuries, particularly gradual‐onset Achilles tendon injury, have become common, often causing substantial training disruptions. However, the influence of running experience on the Achilles tendon structure in amateur runners remains largely unclear.
Wanzhen Yao, Yong Chen, Siyu Dai, Jing Zhou, Xinmiao Mao, Yanjing Zhang, Jianping Ding, Jie Liu, Jie Huang   +8 more
wiley   +1 more source

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

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers. [PDF]

Sci Rep
Likhitweerawong N, Montanaro FAM, Santos ER, Wang JY, Dejputtawat W, Narasimhan U, Klusek J, Maltman N, Schneider A, Tassone F, Hagerman RJ.   +10 more
europepmc   +1 more source

Basal ganglia T1 hyperintensity

, 2008
Frank Gaillard, Francis Deng, Rohit Sharma   +2 more
openaire   +1 more source

Serum albumin and white matter hyperintensities [PDF]

Natalie M. Zahr, Adolf Pfefferbaum
openalex   +1 more source

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +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

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