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Neurology. Genetics

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https://read.qxmd.com/read/30863791/genomic-variation-in-educational-attainment-modifies-alzheimer-disease-risk
#1
Neha S Raghavan, Badri Vardarajan, Richard Mayeux
Objective: To determine the putative protective relationship of educational attainment on Alzheimer disease (AD) risk using Mendelian randomization and to test the hypothesis that by using genetic regions surrounding individually associated single nucleotide polymorphisms (SNPs) as the instrumental variable, we can identify genes that contribute to the relationship. Methods: We performed Mendelian randomization using genome-wide association study summary statistics from studies of educational attainment and AD in two stages...
April 2019: Neurology. Genetics
https://read.qxmd.com/read/30842977/erratum-the-complex-structure-of-atxn2-genetic-variation
#2
(no author information available yet)
[This corrects the article on p. e299 in vol. 4, PMID: 30588499.].
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30842976/2018-year-in-review-and-message-from-the-editors-to-our-reviewers
#3
EDITORIAL
Stefan M Pulst, Raymond P Roos, Alexandra Durr, Jeffery M Vance, Margherita Milone, Massimo Pandolfo
No abstract text is available yet for this article.
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30842975/-gne-genotype-explains-20-of-phenotypic-variability-in-gne-myopathy
#4
Oksana Pogoryelova, Ian J Wilson, Hank Mansbach, Zohar Argov, Ichizo Nishino, Hanns Lochmüller
Objective: To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries. Methods: Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set. The relative contributions of the GNE mutations, homozygosity, and country to the age at onset were explored using linear modeling, and relative importance measures were calculated...
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30842974/copy-number-variation-of-lingo1-in-familial-dystonic-tremor
#5
Vafa Alakbarzade, Thomas Iype, Barry A Chioza, Royana Singh, Gaurav V Harlalka, Holly Hardy, Ajith Sreekantan-Nair, Christos Proukakis, Kathryn Peall, Lorraine N Clark, Richard Caswell, Hana Lango Allen, Matthew Wakeling, John K Chilton, Emma L Baple, Elan D Louis, Thomas T Warner, Andrew H Crosby
Objective: To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, dystonic tremor. Methods: Whole-genome single nucleotide polymorphism (SNP) microarray analysis was undertaken to look for copy number variants in the affected individuals. Results: Whole-genome SNP microarray studies identified a tandem duplicated genomic segment of chromosome 15q24 present in all affected family members...
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30842973/genomic-deletions-upstream-of-lamin-b1-lead-to-atypical-autosomal-dominant-leukodystrophy
#6
Bruce Nmezi, Elisa Giorgio, Raili Raininko, Anna Lehman, Malte Spielmann, Mary Kay Koenig, Rahmat Adejumo, Melissa Knight, Ralitza Gavrilova, Murad Alturkustani, Manas Sharma, Robert Hammond, William A Gahl, Camilo Toro, Alfredo Brusco, Quasar S Padiath
Objective: Clinical, radiologic, and molecular analysis of patients with genomic deletions upstream of the LMNB1 gene. Methods: Detailed neurologic, MRI examinations, custom array comparative genomic hybridization (aCGH) analysis, and expression analysis were performed in patients at different clinical centers. All procedures were approved by institutional review boards of the respective institutions. Results: Five patients from 3 independent families presented at ages ranging from 32 to 52 years with neurologic symptoms that included progressive hypophonia, upper and lower limb weakness and spasticity, and cerebellar dysfunction and MRIs characterized by widespread white matter alterations...
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30842972/genotype-structure-phenotype-relationships-diverge-in-paralogs-atp1a1-atp1a2-and-atp1a3
#7
REVIEW
Kathleen J Sweadner, Elena Arystarkhova, John T Penniston, Kathryn J Swoboda, Allison Brashear, Laurie J Ozelius
Objective: We tested the assumption that closely related genes should have similar pathogenic variants by analyzing >200 pathogenic variants in a gene family with high neurologic impact and high sequence identity, the Na,K-ATPases ATP1A1 , ATP1A2 , and ATP1A3 . Methods: Data sets of disease-associated variants were compared. Their equivalent positions in protein crystal structures were used for insights into pathogenicity and correlated with the phenotype and conservation of homology...
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30697592/-pus3-mutations-are-associated-with-intellectual-disability-leukoencephalopathy-and-nephropathy
#8
Anderson Rodrigues Brandão de Paiva, David S Lynch, Uirá Souto Melo, Leandro Tavares Lucato, Fernando Freua, Bruno Della Ripa de Assis, Isabella Barcelos, Clarice Listik, Diego de Castro Dos Santos, Lúcia Inês Macedo-Souza, Henry Houlden, Fernando Kok
No abstract text is available yet for this article.
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30697591/gene-variants-of-adhesion-molecules-predispose-to-ms-a-case-control-study
#9
Efthimios Dardiotis, Elena Panayiotou, Vasileios Siokas, Athina-Maria Aloizou, Kyproula Christodoulou, Andreas Hadjisavvas, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M Hadjigeorgiou, Theodoros Kyriakides
Objective: To examine the effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the development of MS. Methods: A total of 389 Greek MS cases and 336 controls were recruited by 3 MS centers in Cyprus and Greece. In total, 147 tagging single nucleotide polymorphisms across 9 genes encoding for P-selectin ( SELP ), integrins ( ITGA4 , ITGB1 , and ITGB7 ), adhesion molecules ( ICAM1 , VCAM1 , and MADCAM1) , fibronectin 1 ( FN1 ), and osteopontin ( SPP1 ) were genotyped...
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30697590/variable-reporting-of-c9orf72-and-a-high-rate-of-uncertain-results-in-als-genetic-testing
#10
Holly Klepek, Stephen A Goutman, Adam Quick, Stephen J Kolb, Jennifer Roggenbuck
No abstract text is available yet for this article.
February 2019: Neurology. Genetics
https://read.qxmd.com/read/30697589/duplication-and-deletion-upstream-of-lmnb1-in-autosomal-dominant-adult-onset-leukodystrophy
#11
Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi
Objective: To characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 ( LMNB1 ). Methods: Ninety-three patients with adult-onset leukoencephalopathy of unknown etiology were genetically analyzed for copy numbers of LMNB1 and its upstream genes. We examined LMNB1 expression by reverse transcription-qPCR using total RNA extracted from peripheral leukocytes...
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30643851/lysosomal-dysfunction-in-tmem106b-hypomyelinating-leukodystrophy
#12
Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I Wolf, Kym M Boycott, David A Dyment, Kristin D Kernohan
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30643850/a-tropomyosin-receptor-kinase-fused-gene-mutation-associates-with-vacuolar-myopathy
#13
Nicolas N Madigan, Jennifer A Tracy, William J Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30637332/screening-of-novel-restless-legs-syndrome-associated-genes-in-french-canadian-families
#14
Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A Dion, Guy A Rouleau
Objective: To examine whether any rare, protein-altering variants could be identified across 13 recently identified restless legs syndrome (RLS) loci in familial French-Canadian cases. Methods: Whole-exome sequences from 7 large French-Canadian families (4-8 affected per family for a total of 38 cases) were examined for variants in any genes located within 1 Mb on either side of each locus. Results: Among the 43 rare protein-altering variants identified, none segregated with RLS in the families...
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30588500/erratum-novel-genotype-phenotype-and-mri-correlations-in-a-large-cohort-of-patients-with-spg7-mutations
#15
(no author information available yet)
[This corrects the article on p. e279 in vol. 4, PMID: 30533525.].
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30588499/the-complex-structure-of-atxn2-genetic-variation
#16
EDITORIAL
Stefan M Pulst
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30588498/development-of-a-rapid-functional-assay-that-predicts-glut1-disease-severity
#17
Sasha M Zaman, Saul A Mullen, Slavé Petrovski, Snezana Maljevic, Elena V Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou
Objective: To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple functional assay can predict disease outcome from genetic sequence alone. Methods: GLUT1 deficiency, due to mutations in SLC2A1 , causes a wide range of epilepsies. One possible mechanism for this is variable impact of mutations on GLUT1 function. To test this, we measured glucose transport by GLUT1 variants identified in population controls and patients with mild to severe epilepsies...
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30584599/ataxia-telangiectasia-like-disorder-in-a-family-deficient-for-mre11a-caused-by-a-mre11-variant
#18
Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi
Objective: We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency. Methods: Clinical assessments, next-generation sequencing, transcript and immunohistochemistry analyses were performed. Results: The patients presented with poor balance, developmental delay during the first year of age, and suffered from intellectual disability from early childhood...
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30584598/brain-somatic-mutations-in-slc35a2-cause-intractable-epilepsy-with-aberrant-n-glycosylation
#19
Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee
Objective: To identify whether somatic mutations in SLC35A2 alter N-glycan structures in human brain tissues and cause nonlesional focal epilepsy (NLFE) or mild malformation of cortical development (mMCD). Methods: Deep whole exome and targeted sequencing analyses were conducted for matched brain and blood tissues from patients with intractable NLFE and patients with mMCD who are negative for mutations in mTOR pathway genes. Furthermore, tissue glyco-capture and nanoLC/mass spectrometry analysis were performed to examine N-glycosylation in affected brain tissue...
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30584597/atrial-fibrillation-genetic-risk-differentiates-cardioembolic-stroke-from-other-stroke-subtypes
#20
Sara L Pulit, Lu-Chen Weng, Patrick F McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D Mitchell, Jonathan Rosand, Paul I W de Bakker, Emelia J Benjamin, Patrick T Ellinor, Steven J Kittner, Steven A Lubitz, Christopher D Anderson
Objective: We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. Methods: We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors...
December 2018: Neurology. Genetics
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