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Neurology. Genetics

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https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#1
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28534045/compound-heterozygous-mutations-in-masp1-in-a-deaf-child-with-absent-cochlear-nerves
#2
Elina Kari, Isabelle Schrauwen, Lorida Llaci, Laurel M Fisher, John L Go, Marcus Naymik, James A Knowles, Matthew J Huentelman, Rick A Friedman
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28534044/hsp-and-deafness-neurocristopathy-caused-by-a-novel-mosaic-sox10-mutation
#3
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Ahmet Hoke, Wadih M Zein, Daniel Ezzo, Andrea M Atherton, Ann C Modrcin, Majed Dasouki, A Reghan Foley, Carsten G Bönnemann
OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28516161/biallelic-tor1a-variants-in-an-infant-with-severe-arthrogryposis
#4
Sara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H Scharer
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28508085/intragenic-dok7-deletion-detected-by-whole-genome-sequencing-in-congenital-myasthenic-syndromes
#5
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, Paulo José Lorenzoni, Andreas Roos, Pedro Viana, Hidehito Inagaki, Hiroki Kurahashi, Hanns Lochmüller
OBJECTIVE: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS). METHODS: Candidate gene screening and WGS analysis were performed in the case. Allele-specific PCR was subsequently performed to confirm the copy number variation (CNV) that was suspected from the WGS results. RESULTS: In addition to the previously reported frameshift mutation c...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28508084/clinicopathologic-and-molecular-spectrum-of-rnaseh1-related-mitochondrial-disease
#6
Enrico Bugiardini, Olivia V Poole, Andreea Manole, Alan M Pittman, Alejandro Horga, Iain Hargreaves, Cathy E Woodward, Mary G Sweeney, Janice L Holton, Jan-Willem Taanman, Gordon T Plant, Joanna Poulton, Massimo Zeviani, Daniele Ghezzi, John Taylor, Conrad Smith, Carl Fratter, Meena A Kanikannan, Arumugam Paramasivam, Kumarasamy Thangaraj, Antonella Spinazzola, Ian J Holt, Henry Houlden, Michael G Hanna, Robert D S Pitceathly
OBJECTIVE: Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitochondrial disease and establish clinically meaningful genotype-phenotype correlations. METHODS: RNASEH1 was analyzed in patients with (1) multiple deletions/depletion of muscle mtDNA and (2) mendelian progressive external ophthalmoplegia (PEO) with neuropathologic evidence of mitochondrial dysfunction, but no detectable multiple deletions/depletion of muscle mtDNA...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28451643/sca8-should-not-be-tested-in-isolation-for-ataxia
#7
Ricardo H Roda, Alice B Schindler, Craig Blackstone
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28396884/camptocormia-and-shuffling-gait-due-to-a-novel-mt-tv-mutation-diagnostic-pitfalls
#8
Jens Reimann, Diana Lehmann, Steven A Hardy, Gavin Falkous, Charlotte V Y Knowles, Rachel L Jones, Wolfram S Kunz, Robert W Taylor, Cornelia Kornblum
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28480329/african-american-exome-sequencing-identifies-potential-risk-variants-at-alzheimer-disease-loci
#9
Aurelie N'Songo, Minerva M Carrasquillo, Xue Wang, Jeremy D Burgess, Thuy Nguyen, Yan W Asmann, Daniel J Serie, Steven G Younkin, Mariet Allen, Otto Pedraza, Ranjan Duara, Maria T Greig Custo, Neill R Graff-Radford, Nilüfer Ertekin-Taner
OBJECTIVE: In African Americans, we sought to systematically identify coding Alzheimer disease (AD) risk variants at the previously reported AD genome-wide association study (GWAS) loci genes. METHODS: We identified coding variants within genes at the 20 published AD GWAS loci by whole-exome sequencing of 238 African American participants, validated these in 300 additional participants, and tested their association with AD risk in the combined cohort of 538 and with memory endophenotypes in 319 participants...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28382329/familial-childhood-onset-progressive-cerebellar-syndrome-associated-with-the-atp1a3-mutation
#10
Fatima Jaffer, Katherine Fawcett, David Sims, Andreas Heger, Henry Houlden, Michael G Hanna, Helen Kingston, Sanjay M Sisodiya
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28374019/cntnap1-mutations-cause-cns-hypomyelination-and-neuropathy-with-or-without-arthrogryposis
#11
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls
OBJECTIVE: To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS: In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28357412/establishing-prevalence-in-rare-neuromuscular-diseases-a-lesson-from-congenital-myopathies
#12
EDITORIAL
Ahmed K Bamaga, Conrad C Weihl
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28357411/gnao1-encephalopathy-broadening-the-phenotype-and-evaluating-treatment-and-outcome
#13
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J Carss, F Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C Dale, Shekeeb S Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A Kurian, Renzo Guerrini
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28357410/phenotypes-genotypes-and-prevalence-of-congenital-myopathies-older-than-5-years-in-denmark
#14
Nanna Witting, Ulla Werlauff, Morten Duno, John Vissing
OBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: Twenty-five patients were excluded because of atypical features or alternative etiologies...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28349126/genetics-of-stroke-in-a-uk-african-ancestry-case-control-study-south-london-ethnicity-and-stroke-study
#15
Matthew Traylor, Loes Rutten-Jacobs, Charles Curtis, Hamel Patel, Gerome Breen, Stephen Newhouse, Cathryn M Lewis, Hugh S Markus
OBJECTIVE: Despite epidemiologic data showing an increased stroke incidence in African ancestry populations, genetic studies in this group have so far been limited, and there has been little characterization of the genetic contribution to stroke liability in this population, particularly for stroke subtypes. METHODS: We evaluated the evidence that genetic factors contribute to stroke and stroke subtypes in a population of 917 African and African Caribbean stroke cases and 868 matched controls from London, United Kingdom...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#16
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28265589/novel-gbe1-mutation-in-a-japanese-family-with-adult-polyglucosan-body-disease
#17
Yasuo Harigaya, Takashi Matsukawa, Yukio Fujita, Kazuyuki Mizushima, Hiroyuki Ishiura, Jun Mitsui, Shinichi Morishita, Mikio Shoji, Yoshio Ikeda, Shoji Tsuji
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28243630/redefining-the-phenotype-of-alsp-and-aars2-mutation-related-leukodystrophy
#18
REVIEW
Rahul Lakshmanan, Matthew E Adams, David S Lynch, Justin A Kinsella, Rahul Phadke, Jonathan M Schott, Elaine Murphy, Jonathan D Rohrer, Jeremy Chataway, Henry Houlden, Nick C Fox, Indran Davagnanam
OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy (AARS2-L), and highlight key differentiating features. METHODS: ALSP and AARS2-L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28210710/microangiopathy-in-primary-familial-brain-calcification-evidence-from-skin-biopsies
#19
Gaël Nicolas, Florent Marguet, Annie Laquerrière, João Ricardo Mendes de Oliveira, Didier Hannequin
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28428978/20th-workshop-of-the-international-stroke-genetics-consortium-november-3-4-2016-milan-italy-2016-036-isgc-research-priorities
#20
Daniel Woo, Stephanie Debette, Christopher Anderson
OBJECTIVE: To develop a research priority list for the International Stroke Genetics Consortium (ISGC). BACKGROUND: Previously, stroke progress review groups and other activities provided an opportunity for members within the field to develop priorities for research. These filtered into larger categories which then published the top research priorities of their given field. However, these review groups are no longer forming and thus there has been no clear direction on what the research priorities and needs for stroke genetics research...
March 2017: Neurology. Genetics
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