Zobrazeno 1 - 10
of 92
pro vyhledávání: '"infantile encephalopathy"'
Akademický článek
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Autor:
Katsuaki Toyoshima, Kenji Kurosawa, Kaoru Katsumata, Hiroaki Murakami, Yumi Enomoto, Naoto Nishimura, Tatsuro Kumaki
Publikováno v:
Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)
Human Genome Variation
Human Genome Variation
Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b36082b5f10a9634d43c7d81d6991c
http://link.springer.com/article/10.1038/s41439-020-00116-8
http://link.springer.com/article/10.1038/s41439-020-00116-8
Publikováno v:
Experimental Biology and Medicine
Shortly after its discovery in 2000, WWOX was hailed as a tumor suppressor gene. In subsequent years of research, this function was confirmed indisputably. Majority of tumors show high rate of loss of heterozygosity and decreased expression of WWOX.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc05e2856d76a9dfa85cce0d05f5369d
https://doi.org/10.1177/1535370220924618
https://doi.org/10.1177/1535370220924618
Autor:
Mayank Nilay, Deepti Saxena, Suzena Masih, Shubha R. Phadke, Arya Shambhavi, Amita Moirangthem
Publikováno v:
Clinical dysmorphology. 31(2)
Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935db431112d9d120b7e23cd7a855b34
https://pubmed.ncbi.nlm.nih.gov/34845156
https://pubmed.ncbi.nlm.nih.gov/34845156
Publikováno v:
Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1eae0bad932dd1870b59f74a0d34a5ee
https://doi.org/10.1136/archdischild-2021-rcpch.84
https://doi.org/10.1136/archdischild-2021-rcpch.84
Autor:
Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay
Publikováno v:
N Engl J Med
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/
https://europepmc.org/articles/PMC9844116/
Publikováno v:
Frontiers in Psychology, Vol 12 (2021)
Frontiers in Psychology
Frontiers in Psychology
Burst-suppression electroencephalography (EEG) patterns of electrical activity, characterized by intermittent high-power broad-spectrum oscillations alternating with isoelectricity, have long been observed in the human brain during general anesthesia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::527d3a8bc336a34bab3dab5f9a7be9ad
https://www.frontiersin.org/articles/10.3389/fpsyg.2021.673529/full
https://www.frontiersin.org/articles/10.3389/fpsyg.2021.673529/full
Akademický článek
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Autor:
Tonya, Moss, Melanie, May, Heather, Flanagan-Steet, Raymond, Caylor, Yong-Hui, Jiang, Marie, McDonald, Michael, Friez, Allyn, McConkie-Rosell, Richard, Steet
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0fe0c715eb0d52771060670f78e6a18
https://pubmed.ncbi.nlm.nih.gov/34117073
https://pubmed.ncbi.nlm.nih.gov/34117073
Autor:
Shimul Chowdhury, David Dimmock, Nanda Ramchandar, Charlotte A. Hobbs, Yan Ding, Stephen F. Kingsmore, Kiely N. James, Shareef Nahas, Anna-Kaisa Niemi, Annette Feigenbaum, Wendy Benson
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Neonatal encephalopathy with seizures is a presentation in which rapid whole-genome sequencing (rWGS) has shown clinical utility and improved outcomes. We report a neonate who presented on the third day of life with seizures refractory to antiepilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4820ad3c2cb35c309764e1f61373d15c
http://europepmc.org/articles/PMC6996516
http://europepmc.org/articles/PMC6996516