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Relevant bibliographies by topics / L1 syndrome

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Academic literature on the topic 'L1 syndrome'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 February 2022

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Journal articles on the topic "L1 syndrome"

1

Schäfer, Michael K. E., Yun-Chung Nam, Anice Moumen, et al. "L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms." Neurobiology of Disease 40, no. 1 (2010): 222–37. http://dx.doi.org/10.1016/j.nbd.2010.05.029.

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Mataki, Kentaro, Masao Koda, Yosuke Shibao, et al. "Spina Bifida Occulta with Bilateral Spondylolysis at the Thoracolumbar Junction Presenting Cauda Equina Syndrome." Case Reports in Orthopedics 2020 (January 14, 2020): 1–4. http://dx.doi.org/10.1155/2020/2425637.

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Several reports have described the coexistence of spina bifida occulta (SBO) and spondylolysis, but the majority of defects occur at L5. No report has described the coexistence of SBO and spondylolysis at the thoracolumbar junction. We report a case of SBO with spondylolysis at L1, presenting cauda equine syndrome. A 37-year-old man presented with a gait disorder as a result of bilateral motor weakness of the lower extremities. A plain radiograph showed local kyphosis at L1-2 as a result of severe degenerative change and wedging of the vertebral body at L1. Magnetic resonance imaging (MRI) rev

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3

Pielage, Jan. "Induced knockouts provide insights into human L1 syndrome." Journal of Experimental Medicine 213, no. 4 (2016): 466. http://dx.doi.org/10.1084/jem.2134insight1.

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Aljuboori, Zaid, and Emily Sieg. "Resolution of cauda equina syndrome after surgical extraction of lumbar intrathecal bullet." Surgical Neurology International 11 (July 25, 2020): 214. http://dx.doi.org/10.25259/sni_400_2020.

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Background: Gunshot wound (GSW) injuries to the spinal column are correlated with potentially severe neurological damage. Here, we describe a GSW to the thoracolumbar junction (e.g., T12/L1 level) which resulted in a cauda equina syndrome that resolved once the bullet was removed. Case Description: A 29-year-old male presented with a T12-L1 GSW; the bullet traversed the right chest and liver, entered the spinal canal at T12, and then settled at L1. He experienced excruciating burning pain in the right lower extremity/perineum and had urinary retention. On neurological examination, he exhibited

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5

Aljuboori, Zaid. "Surgical removal of a spinal intrathecal projectile led to a significant improvement of cauda equina syndrome." Surgical Neurology International 11 (August 1, 2020): 227. http://dx.doi.org/10.25259/sni_434_2020.

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Background: Penetrating gunshot wounds of the spine are common and can cause severe neurological deficits. However, there are no guidelines as to their optimal treatment. Here, we present a penetrating injury to the lower thoracic spine at the T12 level that lodged within the canal at L1, resulting in a cauda equina syndrome. Notably, the patient’s deficit resolved following bullet removal. Case Description: A 29-year-old male sustained a gunshot injury. The bullet entered the right lower chest, went through the liver, entered the spinal canal at T12, fractured the right T12/L1 facet, and sett

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Han, Rui, Xiaoyun Gong, Yuejie Zhu, et al. "Relationship of PD-1 (PDCD1) and PD-L1 (CD274) Single Nucleotide Polymorphisms with Polycystic Ovary Syndrome." BioMed Research International 2021 (January 3, 2021): 1–9. http://dx.doi.org/10.1155/2021/9596358.

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This study is to investigate the relationship of programmed cell death 1 (PD-1; also known as PDCD1) and programmed death-1-ligand 1 (PD-L1; also known as CD274) single nucleotide polymorphisms (SNPs) with polycystic ovary syndrome (PCOS). This study enrolled 330 PCOS patients and 350 matched controls. ELISA was used to detect the PD-1 and PD-L1 levels in serum. SnaPshot genotyping was performed to analyze the PD-1 and PD-L1 genotyping. Linkage disequilibrium and haplotype of TagSNP loci of PD-1 and PD-L1 genes were also detected. The relationship of genotypes and alleles with PCOS was analyze

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Chidsey, Brandalyn A., Erin E. Baldwin, Reha Toydemir, Lauren Ahles, Heather Hanson, and David A. Stevenson. "L1CAMwhole gene deletion in a child with L1 syndrome." American Journal of Medical Genetics Part A 164, no. 6 (2014): 1555–58. http://dx.doi.org/10.1002/ajmg.a.36474.

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8

Dang, Thao Thi Phuong, Linh My Dao, Anh Man Huynh, and Dan Thi Hanh Vo. "Transgenic Drosophila melanogaster model of metabolic disorders." Science and Technology Development Journal - Natural Sciences 4, no. 4 (2020): 811–17. http://dx.doi.org/10.32508/stdjns.v4i4.929.

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Metabolic syndrome is a collection of disorders related to metabolisms such as obesity, lipid disorders, hyper/hypoglycemia, ... Metabolic syndrome can lead to cardiovascular diseases, strokes, and diabetes - the leading death causes in the world. In many cases, metabolic disorders are original by the redundant/ reduction of insulin- the most important hormone in metabolism regulation. Both of them are involved in beta-cells dysfunction. Many mechanisms related to this phenomenon has been approved, notably mitochondrial dysfunction and the Ubiquitin proteasome system impairment. UCH-L1 is a pr

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9

Mohapatra, Ranjan K., V. P. Saikishore, Mohammad Azam, and Susanta K. Biswal. "Synthesis and physicochemical studies of a series of mixed-ligand transition metal complexes and their molecular docking investigations against Coronavirus main protease." Open Chemistry 18, no. 1 (2020): 1495–506. http://dx.doi.org/10.1515/chem-2020-0190.

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AbstractA novel series of mixed-ligand complexes of the type, [M(L1)(L2)Cl]·2H2O [L1 = 2-(α-methyl salicylidene hydrazine) benzimidazole (primary ligand), L2 = 2,2′-bipyridine (bipy; secondary ligand), M = Co(ii), Ni(ii), Cu(ii) and Zn(ii)], were based on the physicoanalytical studies. The spectroscopic findings revealed tridentate nature of the Schiff base ligand (L1) and its coordination to the metal ions via azomethine nitrogen, ring nitrogen and the deprotonated phenolic oxygen atoms. Furthermore, the synthesized compounds were evaluated for antimicrobial activity against Bacillus subtilis

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Azhar, Muhammad Al, Chainurridha ., and Mururul Aisyi. "Profile of PD-L1 mRNA Expression in Childhood Acute Leukemia." Asian Pacific Journal of Cancer Biology 6, no. 1 (2021): 37–41. http://dx.doi.org/10.31557/apjcb.2021.6.1.37-41.

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Background: Programmed Death Ligand 1 (PD-L1) expression was used to determine type of patients who respond to immunotherapy using immune checkpoint inhibitor in several solid malignancies. However, the role of PD-L1 in hematological malignancies is less explored. Therefore, we aim to investigate PD-L1 mRNA expression in childhood leukemia patients. Association between PD-L1 expression and clinicopathological features was also analyzed. Method: Blood samples of 17 childhood leukemia patients and 12 healthy individuals as control were used in this study. The samples were collected in Dharmais C

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Dissertations / Theses on the topic "L1 syndrome"

1

Jouet, Monique Marie Helene. "The molecular genetics of X-linked hydrocephalus." Thesis, Open University, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295639.

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Eriksson, Malin. "PCR Optimisation and Sequencing of L1CAM for the Verification of a Mutation in a Family with L1 Syndrome." Thesis, Linköpings universitet, Institutionen för klinisk och experimentell medicin, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-16954.

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L1 syndrome is an X-linked recessive disorder, characterised by congenital hydrocephalus, adducted thumbs, spastic paraplegia, agenesis of the corpus callosum and mental retardation. The disease is caused by mutations in the L1CAM gene, encoding a protein predominantly expressed in the nervous system. This protein has been implicated in a variety of processes including neuronal migration, neurite outgrowth and fasciculation, myelination, and long-term memory formation. L1 syndrome was suspected at genetic counselling of a family with a boy suffering from congenital hydrocephalus and mental ret

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Book chapters on the topic "L1 syndrome"

1

"PERFORATING BRANCH SYNDROME OF T12 AND L1." In Diagnosis and Treatment of Pain of Vertebral Origin. CRC Press, 2005. http://dx.doi.org/10.1201/b14257-51.

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2

Vos, Yvonne, Jean-Pierre Fryns, and Connie Schrander-Stumpel. "L1CAM and X-Linked Hydrocephalus (L1 Syndrome)." In Epstein's Inborn Errors of Development. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0199.

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