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Neurology. Genetics

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https://www.readbyqxmd.com/read/29264399/clinical-heterogeneity-and-phenotype-genotype-findings-in-5-families-with-gyg1-deficiency
#1
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist, Nathalie Streichenberger, Maud Beuvin, Martin Krahn, Philippe Petiot, Frédéric Parisot, Fabrice Michel, Edoardo Malfatti, Norma Romero, Robert Yves Carlier, Bruno Eymard, Philippe Labrune, Morten Duno, Thomas Krag, Mathieu Cerino, Marc Bartoli, Gisèle Bonne, John Vissing, Pascal Laforet, François M Petit
Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9 patients from 5 families in whom muscle biopsies showed vacuoles with an abnormal accumulation of glycogen in muscle fibers, partially α-amylase resistant suggesting polyglucosan bodies. The patients had either progressive early-onset limb-girdle weakness or late-onset distal or scapuloperoneal muscle affection as shown by muscle imaging...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264398/nav-channel-variants-in-patients-with-painful-and-nonpainful-peripheral-neuropathy
#2
Samir Wadhawan, Saumya Pant, Ryan Golhar, Stefan Kirov, John Thompson, Leslie Jacobsen, Irfan Qureshi, Senda Ajroud-Driss, Roy Freeman, David M Simpson, A Gordon Smith, Ahmet Hoke, Linda J Bristow
Objective: To examine the incidence of nonsynonymous missense variants in SCN9A (NaV1.7), SCN10A (NaV1.8), and SCN11A (NaV1.9) in patients with painful and nonpainful peripheral neuropathy. Methods: Next-generation sequencing was performed on 457 patient DNA samples provided by the Peripheral Neuropathy Research Registry (PNRR). The patient diagnosis was as follows: 278 idiopathic peripheral neuropathy (67% painful and 33% nonpainful) and 179 diabetic distal polyneuropathy (77% painful and 23% nonpainful)...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264397/clinical-features-and-outcome-of-6-new-patients-carrying-de-novo-kcnb1-gene-mutations
#3
Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini
Objective: To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations. Methods: Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel. Results: The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent seizures became seizure free; the mean age at seizure offset was 4...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264396/novel-ndufs4-gene-mutation-in-an-atypical-late-onset-mitochondrial-form-of-multifocal-dystonia
#4
Celine Bris, Tiphaine Rouaud, Valerie Desquiret-Dumas, Naig Gueguen, David Goudenege, Magalie Barth, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Anne-Sophie Lebre, Vincent Procaccio
No abstract text is available yet for this article.
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264395/factors-influencing-the-age-at-onset-in-familial-frontotemporal-lobar-dementia-important-weight-of-genetics
#5
Mathieu Barbier, Agnès Camuzat, Marion Houot, Fabienne Clot, Paola Caroppo, Clémence Fournier, Daisy Rinaldi, Florence Pasquier, Didier Hannequin, Jérémie Pariente, Kathy Larcher, Alexis Brice, Emmanuelle Génin, Audrey Sabbagh, Isabelle Le Ber
Objective: To quantify the effect of genetic factors and generations influencing the age at onset (AAO) in families with frontotemporal lobar dementia (FTD) due to C9ORF72 hexanucleotide repeat expansions and GRN mutations. Methods: We studied 504 affected individuals from 133 families with C9ORF72 repeat expansions and 90 FTD families with mutations in GRN, 2 major genes responsible for FTD and/or amyotrophic lateral sclerosis. Intrafamilial correlations of AAO were analyzed, and variance component methods were used for heritability estimates...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264394/opening-one-s-eyes-to-mosaicism-in-progressive-external-ophthalmoplegia
#6
Ewen W Sommerville, Rachel L Jones, Steven A Hardy, Emma L Blakely, Angela Pyle, Andrew M Schaefer, Patrick F Chinnery, Douglass M Turnbull, Gráinne S Gorman, Robert W Taylor
No abstract text is available yet for this article.
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264393/novel-grn-mutation-presenting-as-an-aphasic-dementia-and-evolving-into-corticobasal-syndrome
#7
Hugo Botha, NiCole A Finch, Ralitza H Gavrilova, Mary M Machulda, Julie A Fields, Val J Lowe, Ronald C Petersen, Clifford R Jack, Christina M Dheel, Debra J Gearhart, David S Knopman, Rosa Rademakers, Bradley F Boeve
No abstract text is available yet for this article.
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264392/cdkl5-variants-improving-our-understanding-of-a-rare-neurologic-disorder
#8
Ralph D Hector, Vera M Kalscheuer, Friederike Hennig, Helen Leonard, Jenny Downs, Angus Clarke, Tim A Benke, Judith Armstrong, Mercedes Pineda, Mark E S Bailey, Stuart R Cobb
Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264391/germline-and-somatic-mutations-in-stxbp1-with-diverse-neurodevelopmental-phenotypes
#9
Mohammed Uddin, Marc Woodbury-Smith, Ada Chan, Ledia Brunga, Sylvia Lamoureux, Giovanna Pellecchia, Ryan K C Yuen, Muhammad Faheem, Dimitri J Stavropoulos, James Drake, Cecil D Hahn, Cynthia Hawkins, Adam Shlien, Christian R Marshall, Lesley A Turner, Berge A Minassian, Stephen W Scherer, Cyrus Boelman
Objective: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD). Methods: Patients with STXBP1 mutations were identified in various ways: as part of a retrospective cohort study of epileptic encephalopathy; through clinical referrals of individuals (10,619) with developmental delay (DD) for chromosomal microarray; and from a collection of 5,205 individuals with autism spectrum disorder (ASD) examined by whole-genome sequencing...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29264390/characterization-of-a-kcnb1-variant-associated-with-autism-intellectual-disability-and-epilepsy
#10
Jeffrey D Calhoun, Carlos G Vanoye, Fernando Kok, Alfred L George, Jennifer A Kearney
Objective: To perform functional characterization of a potentially pathogenic KCNB1 variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG. Methods: Whole-exome sequencing identified the KCNB1 variant c.595A>T (p.Ile199Phe). Biochemical and electrophysiologic experiments were performed to determine whether this variant affected protein expression, trafficking, and channel functional properties...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29147684/c-207c-g-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia
#11
Ali S Shalash, Thomas W Rösler, Stefanie H Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29184914/genomic-links-between-blast-exposure-brain-injury-and-alzheimer-disease
#12
EDITORIAL
Yvette P Conley, Ramon Diaz-Arrastia
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29184913/the-alzheimer-s-disease-sequencing-project-study-design-and-sample-selection
#13
Gary W Beecham, J C Bis, E R Martin, S-H Choi, A L DeStefano, C M van Duijn, M Fornage, S B Gabriel, D C Koboldt, D E Larson, A C Naj, B M Psaty, W Salerno, W S Bush, T M Foroud, E Wijsman, L A Farrer, A Goate, J L Haines, Margaret A Pericak-Vance, E Boerwinkle, R Mayeux, S Seshadri, G Schellenberg
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28975157/cervical-artery-dissection-and-iliac-artery-aneurysm-in-an-smad-4-mutation-carrier
#14
Emmanuel Wiener, Peter Martin, Sarju Mehta, Hugh Stephen Markus
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28975156/moderate-blast-exposure-alters-gene-expression-and-levels-of-amyloid-precursor-protein
#15
Jessica Gill, Ann Cashion, Nicole Osier, Lindsay Arcurio, Vida Motamedi, Kristine C Dell, Walter Carr, Hyung-Suk Kim, Sijung Yun, Peter Walker, Stephen Ahlers, Matthew LoPresti, Angela Yarnell
OBJECTIVE: To explore gene expression after moderate blast exposure (vs baseline) and proteomic changes after moderate- (vs low-) blast exposure. METHODS: Military personnel (N = 69) donated blood for quantification of protein level, and peak pressure exposures were detected by helmet sensors before and during a blast training program (10 days total). On day 7, some participants (n = 29) sustained a moderate blast (mean peak pressure = 7.9 psi) and were matched to participants with no/low-blast exposure during the training (n = 40)...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28975155/genome-wide-scan-in-hispanics-highlights-candidate-loci-for-brain-white-matter-hyperintensities
#16
Ashley Beecham, Chuanhui Dong, Clinton B Wright, Nicole Dueker, Adam M Brickman, Liyong Wang, Charles DeCarli, Susan H Blanton, Tatjana Rundek, Richard Mayeux, Ralph L Sacco
OBJECTIVE: To investigate genetic variants influencing white matter hyperintensities (WMHs) in the understudied Hispanic population. METHODS: Using 6.8 million single nucleotide polymorphisms (SNPs), we conducted a genome-wide association study (GWAS) to identify SNPs associated with WMH volume (WMHV) in 922 Hispanics who underwent brain MRI as a cross-section of 2 community-based cohorts in the Northern Manhattan Study and the Washington Heights-Inwood Columbia Aging Project...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28971145/arhgef28-p-lys280metfs40ter-in-an-amyotrophic-lateral-sclerosis-family-with-a-c9orf72-expansion
#17
Sali M K Farhan, Tania F Gendron, Leonard Petrucelli, Robert A Hegele, Michael J Strong
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28971144/autosomal-recessive-inheritance-of-adcy5-related-generalized-dystonia-and-myoclonus
#18
Matthew J Barrett, Eli S Williams, Chelsea Chambers, Radhika Dhamija
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28955729/children-with-5-end-nf1-gene-mutations-are-more-likely-to-have-glioma
#19
Corina Anastasaki, Stephanie M Morris, Feng Gao, David H Gutmann
OBJECTIVE: To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1). METHODS: The relationship between the type and location of the germline NF1 mutation and the presence of a glioma was analyzed in 37 participants with NF1 from one institution (Washington University School of Medicine [WUSM]) with a clinical diagnosis of NF1. Odds ratios (ORs) were calculated using both unadjusted and weighted analyses of this data set in combination with 4 previously published data sets...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28955728/hyperventilation-athetosis-in-asxl3-deficiency-bainbridge-ropers-syndrome
#20
Rubina Dad, Susan Walker, Stephen W Scherer, Muhammad Jawad Hassan, Suk Yun Kang, Berge A Minassian
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
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