Results 61 to 70 of about 3,646,381 (383)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Adult Brainstem Gliomas With H3K27M Mutation: Radiology, Pathology, and Prognosis

Journal of Neuropathology and Experimental Neurology, 2018
Adult brainstem gliomas are difficult to classify based on radiologic and histologic features. A K27M mutation in histone 3 has been described to identify high-grade midline gliomas associated with a particularly unfavorable prognosis.
Elena V Daoud, V. Rajaram, Chunyu Cai, Robert Oberle, Gregory R. Martin, J. Raisanen, C. White, C. Foong, B. Mickey, E. Pan, K. Hatanpaa   +10 more
semanticscholar   +1 more source

High-Efficiency CRISPR/Cas9 Mutagenesis of the white Gene in the Milkweed Bug Oncopeltus fasciatus

Genetics, 2020
In this manuscript, we report that clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 is highly efficient in the hemipteran Oncopeltus fasciatus.
Katie Reding, L. Pick
semanticscholar   +1 more source

Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1962-1973, December 2022., 2022
Abstract Objectives Early‐ and late‐onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain‐specific cognitive function in a well characterized cohort of patients with a biomarker‐based diagnosis.
Adrià Tort‐Merino, Neus Falgàs, Isabel E. Allen, Mircea Balasa, Jaume Olives, José Contador, Magdalena Castellví, Jordi Juncà‐Parella, Núria Guillén, Sergi Borrego‐Écija, Bea Bosch, Guadalupe Fernández‐Villullas, Oscar Ramos‐Campoy, Anna Antonell, Lorena Rami, Raquel Sánchez‐Valle, Albert Lladó   +16 more
wiley   +1 more source

An Uncommon Presentation of Darier-White Disease with Hystrix-like Palmoplantar Keratoderma [PDF]

, 2021
Darier-White disease is a relatively common autosomal dominant genodermatosis caused by mutation in the ATP2A2 gene. It is characterized by multiple warty papules coalescing into plaques in the seborrheic areas and by specific histological skin changes ...
Ellenbogen, Eran, Gat, Andrea, Goldberg, Ilan, Jammal, Anwar, Martinez, Helena, Pessach, Yakov, Sprecher, Eli   +6 more
core   +3 more sources

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China

BMC Musculoskeletal Disorders, 2021
Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene.
Lin Chen, Nan Wang, Wenbin Hu, Xuen Yu, Renming Yang, Yongzhu Han, Yan Yan, Na Nian, Congbo Sha   +8 more
doaj   +1 more source

Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome. [PDF]

, 2014
22q11.2 Microdeletion Syndrome (22q11DS) is a highly penetrant genetic mutation associated with a significantly increased risk for psychosis. Aberrant neurodevelopment may lead to inappropriate neural circuit formation and cerebral dysconnectivity in ...
Bearden, Carrie E, Chow, Carolyn, Jalbrzikowski, Maria, Karlsgodt, Katherine H, Senturk, Damla, Thompson, Paul M, Villalon-Reina, Julio E   +6 more
core   +3 more sources

Reversal of endothelial dysfunction reduces white matter vulnerability in cerebral small vessel disease in rats

Science Translational Medicine, 2018
Endothelial cell–stabilizing drugs reverse white matter pathology in a rat model of cerebral small vessel disease. Defeating dysfunction Cerebral small vessel disease (SVD) affects arterioles in the brain, increasing risk of stroke and causing symptoms ...
Rikesh M. Rajani, Sophie Quick, S. Ruigrok, D. Graham, S. Harris, Benjamin F. J. Verhaaren, M. Fornage, S. Seshadri, S. Atanur, A. Dominiczak, Colin Smith, J. Wardlaw, Anna C. Williams   +12 more
semanticscholar   +1 more source

Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation

Brain and Behavior, 2021
The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhibited a range
Pinar Demirayak, Kader Karli Oguz, Fatma Seyhun Ustun, Buse Merve Urgen, Yasemin Topac, Irtiza Gilani, Tulay Kansu, Serap Saygi, Tayfun Ozcelik, Huseyin Boyaci, Katja Doerschner   +10 more
doaj   +1 more source

Widespread white matter and conduction defects in PSEN1-related spastic paraparesis [PDF]

, 2016
The mechanisms underlying PSEN1 mutation-associated spastic paraparesis (SP) are not clear. We compared diffusion and volumetric magnetic resonance measures between 3 persons with SP associated with the A431E mutation and 7 symptomatic persons with PSEN1
Apostolova, Liana G., Benzinger, Tammie, Bordelon, Yvette M., Braskie, Meredith N., Casado, Maria, Coppola, Giovanni, Coutin-Churchman, Pedro, Joseph-Mathurin, Nelly, McCallum, Holly, Nuwer, Marc, Ringman, John M., Soosman, Steffan K., Wharton, David   +12 more
core   +1 more source