Results 81 to 90 of about 32,319 (241)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

A Representative Survey of M.S. Patients on Attitudes toward the Benefits and Risks of Drug Therapy [PDF]

Background: Although M.S. patients face significant trade-offs between risks and benefits of drug therapy, little is known of their attitudes toward these risks and benefits.
Calfee, John E.
core  

PARP-1 deregulation in multiple sclerosis

Multiple Sclerosis Journal - Experimental, Translational and Clinical, 2019
Background Poly (ADP-ribose) polymerase 1 (PARP-1) plays pivotal roles in immune and inflammatory responses. Accumulating evidence suggests PARP-1 as a promising target for immunomodulation in multiple sclerosis and natalizumab-associated progressive ...
Maria Meira, Claudia Sievers, Francine Hoffmann, Heidi Bodmer, Tobias Derfuss, Jens Kuhle, Aiden Haghikia, Ludwig Kappos, Raija LP Lindberg   +8 more
doaj   +1 more source

The silent consequence of overdose: The case for brain injury‐informed opioid treatment

Addiction, EarlyView.
Nathaniel Day, Kym Kaufmann, Mauricio Garcia‐Barrera, Jitender Sareen, Daniel Vigo   +4 more
wiley   +1 more source

Pathogenic Variants in HEPACAM Alter Protein Localization and Interactome in Astrocytes of the Developing Mouse Cortex

Glia, Volume 74, Issue 11, November 2026.
Pathogenic variants alter hepaCAM protein distribution. Astrocyte‐specific hepaCAM TurboID reveals KCNQ2 as a new interaction partner. Pathogenic variants alter hepaCAM association with key transmembrane proteins. ABSTRACT Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early‐onset macrocephaly,
Robert W. Lewis, Breana C. Dogan, Amy L. Stanek, Elliot B. Evans, Madelyn G. Coble, Hayli E. Spence‐Osorio, Karen L. G. Farizatto, Angie L. Mordant, C. Allie Mills, Laura E. Herring, Katherine T. Baldwin   +10 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mapping

Frontiers in Neurology
Chemotherapy and radiotherapy are widely used in the treatment of central nervous system tumors and acute lymphocytic leukemia even in the pediatric population.
Gaetano Celardo, Gaetano Celardo, Elena Scaffei, Bianca Buchignani, Bianca Buchignani, Graziella Donatelli, Graziella Donatelli, Mauro Costagli, Mauro Costagli, Paola Cristofani, Raffaello Canapicchi, Rosa Pasquariello, Michela Tosetti, Roberta Battini, Roberta Battini, Laura Biagi   +15 more
doaj   +1 more source

Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations

Annals of Indian Academy of Neurology, 2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ...
Hongyan Huang, Xinglong Yang, Ling Liu, Yanming Xu   +3 more
doaj   +1 more source

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, Volume 36, Issue 6, November 2026.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

Treatable Leukoencephalopathy in a Patient with Hypophosphatemia

, 2017
We report the first patient with pathologically proven leukoencephalopathy associated with hypophosphatemia. A 61-year-old woman had repetitive episodes of decreased consciousness with pontine and pallidal lesions and extensive leukoencephalopathy on MRI,
Makito Hirano, Masaki Yamana, Masahiro Okazaki, Takao Satou, Susumu Kusunoki, Tomoki Iwatsu, Hidekazu Suzuki, Masahiro Okazaki   +7 more
core   +1 more source