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https://www.readbyqxmd.com/read/29168048/homozygous-expression-of-mutant-elovl4-leads-to-seizures-and-death-in-a-novel-animal-model-of-very-long-chain-fatty-acid-deficiency
#1
Blake R Hopiavuori, Ferenc Deák, Joseph L Wilkerson, Richard S Brush, Nicole A Rocha-Hopiavuori, Austin R Hopiavuori, Kathryn G Ozan, Michael T Sullivan, Jonathan D Wren, Constantin Georgescu, Luke Szweda, Vibhudutta Awasthi, Rheal Towner, David M Sherry, Robert E Anderson, Martin-Paul Agbaga
Lipids are essential components of the nervous system. However, the functions of very long-chain fatty acids (VLC-FA; ≥ 28 carbons) in the brain are unknown. The enzyme ELOngation of Very Long-chain fatty acids-4 (ELOVL4) catalyzes the rate-limiting step in the biosynthesis of VLC-FA (Agbaga et al., Proc Natl Acad Sci USA 105(35): 12843-12848, 2008; Logan et al., J Lipid Res 55(4): 698-708, 2014), which we identified in the brain as saturated fatty acids (VLC-SFA). Homozygous mutations in ELOVL4 cause severe neuropathology in humans (Ozaki et al...
November 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29143597/genotypic-and-phenotypic-features-of-all-spanish-patients-with-mcardle-disease-a-2016-update
#2
Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A Martín, Alejandro Lucia
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. METHODS: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016)...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28940650/polygenic-hazard-scores-in-preclinical-alzheimer-disease
#3
Chin Hong Tan, Bradley T Hyman, Jacinth J X Tan, Christopher P Hess, William P Dillon, Gerard D Schellenberg, Lilah M Besser, Walter A Kukull, Karolina Kauppi, Linda K McEvoy, Ole A Andreassen, Anders M Dale, Chun Chieh Fan, Rahul S Desikan
Identifying asymptomatic older individuals at elevated risk for developing Alzheimer disease (AD) is of clinical importance. Among 1,081 asymptomatic older adults, a recently validated polygenic hazard score (PHS) significantly predicted time to AD dementia and steeper longitudinal cognitive decline, even after controlling for APOE ɛ4 carrier status. Older individuals in the highest PHS percentiles showed the highest AD incidence rates. PHS predicted longitudinal clinical decline among older individuals with moderate to high Consortium to Establish a Registry for Alzheimer's Disease (amyloid) and Braak (tau) scores at autopsy, even among APOE ɛ4 noncarriers...
September 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28870565/corrigendum-to-is-maraviroc-useful-in-multiple-sclerosis-patients-with-natalizumab-related-progressive-multifocal-leukoencephalopathy-j-neurol-sci-378-2017-233-237
#4
C Scarpazza, L Prosperini, C R Mancinelli, N De Rossi, A Lugaresi, M Capobianco, L Moiola, P Naldi, L Imberti, S Gerevini, R Capra
No abstract text is available yet for this article.
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28856750/thiamine-deficiency-in-childhood-with-attention-to-genetic-causes-survival-and-outcome-predictors
#5
Juan Darío Ortigoza-Escobar, Majid Alfadhel, Marta Molero-Luis, Niklas Darin, Ronen Spiegel, Irenaeus F de Coo, Mike Gerards, Robert W Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez-Pombo, Brahim Tabarki, Belén Pérez-Dueñas
Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology...
September 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28818513/corrigendum-to-cognitive-impairment-and-bdnf-serum-levels-polish-j-neurol-neurosurg-51-2017-24-32
#6
Joanna Siuda, Maja Patalong-Ogiewa, Weronika Żmuda, Magdalena Targosz-Gajniak, Ewa Niewiadomska, Iwona Matuszek, Halina Jędrzejowska-Szypułka, Monika Rudzińska-Bar
No abstract text is available yet for this article.
July 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28802980/corrigendum-to-sealing-frequency-of-b104-cells-declines-exponentially-with-decreasing-transection-distance-from-the-axon-hillock-exp-neurol-279-2016-149-158
#7
Christopher H McGill, Solomon Raju Bhupanapadu Sunkesula, Andrew D Poon, Michelle Mikesh, George D Bittner
No abstract text is available yet for this article.
November 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28797736/corrigendum-to-eeg-changes-in-rolandic-epilepsy-under-treatment-with-levetiracetam-and-sulthiame-eur-j-paediatr-neurol-21-suppl-1-june-2017-e97
#8
COMMENT
Moritz Tacke, Ingo Borggraefe, Lucia Gerstl, Florian Heinen, Katharina Vill, Michaela Bonfert, Thomas Bast
No abstract text is available yet for this article.
November 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28600075/corrigendum-to-optic-nerve-sheath-fenestration-for-idiopathic-intracranial-hypertension-a-seven-year-review-of-visual-outcomes-in-a-tertiary-centre-clin-neurol-neurosurg-137-october-2015-94-101
#9
E E Obi, B K Lakhani, J Burns, R Sampath
No abstract text is available yet for this article.
August 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28590426/down-s-syndrome-and-triple-negative-breast-cancer-a-rare-occurrence-of-distinctive-clinical-relationship
#10
Nandini Dey, Amy Krie, Jessica Klein, Kirstin Williams, Amanda McMillan, Rachel Elsey, Yuliang Sun, Casey Williams, Pradip De, Brian Leyland-Jones
Down's syndrome (DS), the most common genetic cause of significant intellectual disability in children and adults is caused by the trisomy of either all or a part of human chromosome 21 (HSA21). Patients with DS mostly suffer from characteristic tumor types. Although individual patients of DS are at a higher risk for acute leukemia and testicular cancers, other types of solid tumors including breast cancers are mostly uncommon and have significantly lower-than-expected age-adjusted incidence rates. Except for an increased risk of retinoblastomas, and lymphomas, the risk of developing solid tumors has been found to be lower in both children and adults, and breast cancer was found to be almost absent (Hasle H...
June 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28511786/corrigendum-to-the-neuroprotective-compound-p7c3-a20-promotes-neurogenesis-and-improves-cognitive-function-after-stroke-exp-neurol-290-2017-63-73
#11
Zachary B Loris, Andrew A Pieper, W Dalton Dietrich
No abstract text is available yet for this article.
May 13, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28511629/letter-to-the-editor-re-zeidman-la-stone-j-kondziella-d-new-revelations-about-hans-berger-father-of-the-electroencephalogram-eeg-and-his-ties-to-the-third-reich-j-child-neurol-2014-29-1002-1010
#12
https://www.readbyqxmd.com/read/28417449/citicoline-pharmacological-and-clinical-review-2016-update
#13
REVIEW
J J Secades
This review is based on the previous one published in 2010 -Secades JJ. Citicoline: pharmacological and clinical review, 2010 update. Rev Neurol 2011; 52 (Suppl 2): S1-62-, incorporating 183 new references, having all the information available to facilitate the access to the information in one document. This review is focused on the main indications of the drug, as acute stroke and its sequelae, including the cognitive impairment, and traumatic brain injury and its sequelae. There are retrieved the most important experimental and clinical data in both indications...
December 23, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/28323680/transient-global-amnesia-commentary-on-trip-gabriel-s-first-person-account
#14
Howard S Kirshner
This paper comments on a companion article, a first-person account of an episode of transient global amnesia written by New York Times reporter Trip Gabriel (Gabriel T. 2017. Cogn Behav Neurol. 30:1-4). Mr Gabriel describes having no memories of a cold, rainy day that he had spent on a sailboat competing in two races. The episode may have been triggered by his exposure to water. Afterward, the skipper recalled that Mr Gabriel had functioned fine on the boat, although after returning to shore he needed help finding his car...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28323679/the-day-that-went-missing-a-first-person-account-of-transient-global-amnesia
#15
Trip Gabriel
In this vivid first-person case history, political reporter Trip Gabriel describes experiencing a classic episode of transient global amnesia. He was near the average target age of 61. Although no cause has been established for the syndrome, as with many other patients his episode appears to have been triggered by contact with water: He was racing a sailboat. While remaining alert and handling complex sailing maneuvers, he suddenly developed amnesia that left him with no recollection of finishing two races, returning to shore, drinking a beer with his friends, needing help finding his car, and not knowing where he was or where he lived...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28320149/corrigendum-to-clinical-and-genetic-studies-in-patients-with-lafora-disease-from-pakistan-j-neurol-sci-373-2017-263-267
#16
Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N Ahmad, Abdul Nasir, Christian A Hübner, Muhammad Jawad Hassan
No abstract text is available yet for this article.
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320111/corrigendum-to-the-utility-of-diffusion-mri-with-quantitative-adc-measurements-for-differentiating-high-grade-from-low-grade-cerebral-gliomas-evidence-from-a-meta-analysis-j-neurol-sci-373-2017-9-15
#17
Li Zhang, Zhiqian Min, Min Tang, Sipan Chen, Xiaoyan Lei, Xiaoling Zhang
No abstract text is available yet for this article.
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28292530/corrigendum-to-reggie-1-and-reggie-2-flotillins-participate-in-rab11a-dependent-cargo-trafficking-spine-synapse-formation-and-ltp-related-ampa-receptor-glua1-surface-exposure-in-mouse-hippocampal-neurons-exp-neurol-289-pages-31-45
#18
Vsevolod Bodrikov, Aline Pauschert, Gaga Kochlamazashvili, Claudia A O Stuermer
No abstract text is available yet for this article.
March 12, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28291520/corrigendum-to-entorhinal-cortex-lesions-result-in-adenosine-sensitive-high-frequency-oscillations-in-the-hippocampus-exp-neurol-271-2015-319-328
#19
Franco Ortiz, Rafael Gutiérrez
No abstract text is available yet for this article.
March 11, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28255676/human-orbital-and-anterior-medial-prefrontal-cortex-intrinsic-connectivity-parcellation-and-functional-organization
#20
Zoe Samara, Elisabeth A T Evers, Alexandros Goulas, Harry B M Uylings, Grazyna Rajkowska, Johannes G Ramaekers, Peter Stiers
The orbital and medial prefrontal cortex (OMPFC) has been implicated in decision-making, reward and emotion processing, and psychopathology, such as depression and obsessive-compulsive disorder. Human and monkey anatomical studies indicate the presence of various cortical subdivisions and suggest that these are organized in two extended networks, a medial and an orbital one. Attempts have been made to replicate these neuroanatomical findings in vivo using MRI techniques for imaging connectivity. These revealed several consistencies, but also many inconsistencies between reported results...
March 2, 2017: Brain Structure & Function
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