journal
MENU ▼
Read by QxMD icon Read
search

Neurology. Genetics

journal
https://www.readbyqxmd.com/read/29147684/c-207c-g-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia
#1
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/28975157/cervical-artery-dissection-and-iliac-artery-aneurysm-in-an-smad-4-mutation-carrier
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28955727/nonsyndromic-parkinson-disease-in-a-family-with-autosomal-dominant-optic-atrophy-due-to-opa1-mutations
#9
David S Lynch, Samantha H Y Loh, Jasmine Harley, Alastair J Noyce, L Miguel Martins, Nicholas W Wood, Henry Houlden, Helene Plun-Favreau
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28955726/de-novo-ctbp1-variant-is-associated-with-decreased-mitochondrial-respiratory-chain-activities
#10
Ewen W Sommerville, Charlotte L Alston, Angela Pyle, Langping He, Gavin Falkous, Karen Naismith, Patrick F Chinnery, Robert McFarland, Robert W Taylor
OBJECTIVE: To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder. METHODS: A case report including diagnostic workup, whole-exome sequencing of the affected patient, filtering, and prioritization of candidate variants assuming a suspected autosomal recessive mitochondrial disorder and segregation studies...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28913435/iba57-mutations-abrogate-iron-sulfur-cluster-assembly-leading-to-cavitating-leukoencephalopathy
#11
Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, Satoru Noguchi, Satomi Mitsuhashi, Yukari Endo, Yukiko K Hayashi, Yoshiaki Saito, Eiji Nakagawa, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Noriko Sato, Ikuya Nonaka, Yu-Ichi Goto, Ichizo Nishino
OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who showed no inconsistencies in either clinical or brain MRI findings as PCL. We used exome sequencing, immunoblotting, and enzyme activity assays to establish a molecular diagnosis and determine the roles of ISC-associated factors in PCL...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#12
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852708/a-novel-intronic-mutation-in-mtm1-detected-by-rna-analysis-in-a-case-of-x-linked-myotubular-myopathy
#13
Aqeela Al-Hashim, Hernan D Gonorazky, Kimberly Amburgey, Soma Das, James J Dowling
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852707/design-and-rationale-for-examining-neuroimaging-genetics-in-ischemic-stroke-the-mri-genie-study
#14
Anne-Katrin Giese, Markus D Schirmer, Kathleen L Donahue, Lisa Cloonan, Robert Irie, Stefan Winzeck, Mark J R J Bouts, Elissa C McIntosh, Steven J Mocking, Adrian V Dalca, Ramesh Sridharan, Huichun Xu, Petrea Frid, Eva Giralt-Steinhauer, Lukas Holmegaard, Jaume Roquer, Johan Wasselius, John W Cole, Patrick F McArdle, Joseph P Broderick, Jordi Jimenez-Conde, Christina Jern, Brett M Kissela, Dawn O Kleindorfer, Robin Lemmens, Arne Lindgren, James F Meschia, Tatjana Rundek, Ralph L Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Vincent Thijs, Daniel Woo, Bradford B Worrall, Steven J Kittner, Braxton D Mitchell, Jonathan Rosand, Polina Golland, Ona Wu, Natalia S Rost
OBJECTIVE: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. METHODS: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852706/ultra-rare-mutations-in-srcap-segregate-in-caribbean-hispanic-families-with-alzheimer-disease
#15
Badri N Vardarajan, Giuseppe Tosto, Roger Lefort, Lei Yu, David A Bennett, Philip L De Jager, Sandra Barral, Dolly Reyes-Dumeyer, Peter L Nagy, Joseph H Lee, Rong Cheng, Martin Medrano, Rafael Lantigua, Ekaterina Rogaeva, Peter St George-Hyslop, Richard Mayeux
OBJECTIVE: To identify rare coding variants segregating with late-onset Alzheimer disease (LOAD) in Caribbean Hispanic families. METHODS: Whole-exome sequencing (WES) was completed in 110 individuals from 31 Caribbean Hispanic families without APOE ε4 homozygous carriers. Rare coding mutations segregating in families were subsequently genotyped in additional families and in an independent cohort of Caribbean Hispanic patients and controls. SRCAP messenger RNA (mRNA) expression was assessed in whole blood from mutation carriers with LOAD, noncarriers with LOAD, and healthy elderly controls, and also from autopsied brains in 2 clinical neuropathologic cohort studies of aging and dementia...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28815208/novel-polg-variants-associated-with-late-onset-de-novo-status-epilepticus-and-progressive-ataxia
#16
Yi Shiau Ng, Helen Powell, Nigel Hoggard, Doug M Turnbull, Robert W Taylor, Marios Hadjivassiliou
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28815207/novel-ampd2-mutation-in-pontocerebellar-hypoplasia-dysmorphisms-and-teeth-abnormalities
#17
Andrea Accogli, Michele Iacomino, Francesca Pinto, Alessandro Orsini, Maria Stella Vari, Raed Selmi, Annalaura Torella, Vincenzo Nigro, Carlo Minetti, Mariasavina Severino, Pasquale Striano, Valeria Capra, Federico Zara
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28808687/whole-exome-sequencing-associates-novel-csmd1-gene-mutations-with-familial-parkinson-disease
#18
Javier Ruiz-Martínez, Luis J Azcona, Alberto Bergareche, Jose F Martí-Massó, Coro Paisán-Ruiz
OBJECTIVE: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases. METHODS: In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28840193/what-does-phenotype-have-to-do-with-it
#19
EDITORIAL
Stefan M Pulst
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28812062/clinical-and-experimental-studies-of-a-novel-p525r-fus-mutation-in-amyotrophic-lateral-sclerosis
#20
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St Clair, Edward J Kasarskis, Haining Zhu
OBJECTIVE: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models. METHODS: We conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions...
August 2017: Neurology. Genetics
journal
journal
53058
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"