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Neurology. Genetics

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https://www.readbyqxmd.com/read/28396884/camptocormia-and-shuffling-gait-due-to-a-novel-mt-tv-mutation-diagnostic-pitfalls
#1
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/28382329/familial-childhood-onset-progressive-cerebellar-syndrome-associated-with-the-atp1a3-mutation
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28428977/19th-workshop-of-the-international-stroke-genetics-consortium-april-28-29-2016-boston-massachusetts-usa-2016-001-mri-defined-cerebrovascular-genomics-the-charge-consortium
#13
S Debette, Y Saba, D Vojinovic, X Jian, H Adams, G Chauhan, M Sargurupremraj, S Kaffashian, J Ding, J C Bis, P Nyquist, K Mather, C Van Duijn, L J Launer, M A Ikram, H Schmidt, W T Longstreth, M Fornage, S Seshadri
The CHARGE consortium is an investigator-initiated collaboration to facilitate meta-analyses of genome-wide association studies (GWAS) and genomic analyses based on next generation sequencing (NGS), among multiple large and well-phenotyped population-based cohort studies around the world (http://www.chargeconsortium.com). Within the neuro-CHARGE working group, we are presenting an update of ongoing genomic studies on MRI-markers of cerebrovascular disease. Large population-based studies have shown that the burden of cerebrovascular disease extends far beyond that of clinical stroke...
March 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28251178/2016-in-review-and-message-from-the-editors-to-our-reviewers
#14
EDITORIAL
Stefan M Pulst, Nicholas Elwood Johnson, Alexandra Durr, Massimo Pandolfo, Raymond P Roos, Jeffery M Vance
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28180185/precision-therapy-for-a-new-disorder-of-ampa-receptor-recycling-due-to-mutations-in-atad1
#15
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, Matthew A Deardorff, Alisha B Wilkens, Laura K Conlin, Avni B Santani, Addie Nesbitt, Jane Juulsola, Erica Ma, Ted M Dawson, Valina L Dawson, Eric D Marsh
OBJECTIVE: ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS: Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder characterized by hypertonia, seizures, and death in a consanguineous family...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28180184/a-gain-of-function-mutation-in-the-grik2-gene-causes-neurodevelopmental-deficits
#16
Yomayra F Guzmán, Keri Ramsey, Jacob R Stolz, David W Craig, Mathew J Huentelman, Vinodh Narayanan, Geoffrey T Swanson
OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28144627/phenytoin-responsive-epileptic-encephalopathy-with-a-tandem-duplication-involving-fgf12
#17
Rui-Ming Shi, Tomoko Kobayashi, Atsuo Kikuchi, Ryo Sato, Mitsugu Uematsu, Kumiko An, Shigeo Kure
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28105467/mapt-association-with-rem-sleep-behavior-disorder
#18
Rubén Fernández-Santiago, Alex Iranzo, Carles Gaig, Mónica Serradell, Manel Fernández, Pau Pastor, Eduardo Tolosa, Joan Santamaría, Mario Ezquerra
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28097225/centrally-involved-x-linked-charcot-marie-tooth-disease-presenting-as-a-stroke-mimic
#19
Patrick D Nicholson, Stefan M Pulst
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28097224/everolimus-does-not-prevent-lafora-body-formation-in-murine-lafora-disease
#20
Navin Mishra, Peixiang Wang, Danielle Goldsmith, Xiaochu Zhao, Yunlin Xue, Uwe Christians, Berge A Minassian
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
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