Results 51 to 60 of about 1,085 (157)

Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel

Clinical Genetics, 2018
Leukoencephalopathies encompass all clinical syndromes that predominantly affect brain white matter. Genetic diagnosis informs clinical management of these patients, but a large part of the genetic contribution to adult leukoencephalopathy remains unresolved.
M. Kunii, H. Doi, Y. Ishii, C. Ohba, K. Tanaka, M. Tada, R. Fukai, S. Hashiguchi, H. Kishida, N. Ueda, Y. Kudo, C. Kugimoto, T. Nakano, N. Udaka, S. Miyatake, N. Miyake, H. Saitsu, Y. Ito, K. Takahashi, H. Nakamura, A. Tomita‐Katsumoto, H. Takeuchi, S. Koyano, N. Matsumoto, F. Tanaka   +24 more
openaire   +3 more sources

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

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

Clinical and Genetic Characterization of Leukoencephalopathies in Adults

, 2022
Retroterra scientifico Negli adulti circa il 30-40% delle leucoencefalopatie (LKEN) (= malattie della sostanza bianca) non sono diagnosticati. I pazienti che restano non diagnosticati dopo indagini approfondite possono avare forme atipiche di malattie note, sia genetiche che acquisite, oppure nuove malattie che sono più probabilmente di origine ...
openaire   +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

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

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

Pediatric Blood &Cancer, Volume 73, Issue 10, October 2026.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium   +24 more
wiley   +1 more source

When colony‐stimulating factor 1 receptor (CSF1R) breaks the mold

Developmental Medicine &Child Neurology, EarlyView.
Claire Henchcliffe
wiley   +1 more source