Letters: G. Kether; December 13, 1847 to Mr. George Whipple; Stockbridge, New York.
1847 - Gale Group | SAS Part 1
Matthias Jarke, Stefanie Kethers, Gerhard Lakemeyer, G�nter Gans,
Tópico(s): Information Systems Theories and Implementation
2003 - Springer Science+Business Media | Requirements Engineering
Leila Alem, Michele Joseph, Stefanie Kethers, Cathie Steele, Ross Wilkinson,
This study was two-fold in nature. Initially, it examined the information environment and the use of customary information tools to support medical handovers in a large metropolitan teaching hospital on four weekends (i.e. Friday night to Monday morning). Weekend medical handovers were found to involve sequences of handovers where patients were discussed at the discretion of the doctor handing over; no reliable discussion of all patients of concern occurred at any one handover, with few information ...
Tópico(s): Patient Safety and Medication Errors
2008 - SAGE Publishing | Health Information Management Journal
Stephan Jacobs, Michael Gebhardt, Stefanie Kethers, Wojtek Rzasa,
CoWeb is a system to support simultaneous work in the World Wide Web. CoWeb enables two or more users at remote locations to work with the same HTML document. For example, input fields can be filled collaboratively, and pointers and stretching rectangles can be used to highlight particular parts of images. An additional chatting channel can be used to talk about the document. CoWeb transforms the individual elements of the HTML language into Java applets, so that any existing HTML document can be ...
Tópico(s): Advanced Software Engineering Methodologies
1996 - Elsevier BV | Computer Networks and ISDN Systems
R.I. Yousef, B. Walfort, Tobias Rüffer, Christoph Wagner, Harry Schmidt, Renate Herzog, Dirk Steinborn,
... to be Kthf = 1.2 × 10−3 and Kether = 3.2 × 10−3 (298 K), respectively.
Tópico(s): Synthesis and characterization of novel inorganic/organometallic compounds
2004 - Elsevier BV | Journal of Organometallic Chemistry
Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna C. Saitta, Jennifer L. Murphy, Quasar Saleem Padiath, Yi Xie, Hákon Hákonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver,
We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.Patients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.Five patients who presented with hypomyelination without the classic basal ganglia abnormalities ...
Tópico(s): RNA and protein synthesis mechanisms
2014 - Lippincott Williams & Wilkins | Neurology
Fayçel Jemmezi, Fethi Bel Haj Kether, Ismail Amrı, Jamoussi Bassem, Jamel Eddine Khiari,
Potential biologically active derivatives of the 2-Amino-5-aryl or were prepared by the cyclocondensation reaction of vinamidinium salts with malonitrile.The structures of these compounds were established on the basis of elemental (C, H,N) and spectral ( 1 H-NMR, 13 C-NMR and spectral data) analysis.The compounds were screened for their antifungal and antibacterial activity.The compound 2-amino-5-formylpyridine-3-carbonitrile was found to be the most potent compound of series.
Tópico(s): Bioactive Compounds and Antitumor Agents
2014 - | IOSR Journal of Applied Chemistry
Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik A. Sistermans, Coriene E. Catsman‐Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard,
Objective: To study the clinical and radiologic spectrum and genotype–phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B . Methods: We performed a multinational cross-sectional observational study of the clinical, radiologic, and molecular characteristics of 105 mutation-proven cases. Results: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. ...
Tópico(s): RNA and protein synthesis mechanisms
2014 - Lippincott Williams & Wilkins | Neurology
Hussein Daoud, Martine Tétreault, William T. Gibson, Kether Guerrero, Ana S.A. Cohen, Janina Gburek‐Augustat, Matthis Synofzik, Bernard Brais, Cathy A. Stevens, Rocío Sánchez‐Carpintero, Cyril Goizet, Sakkubai Naidu, Adeline Vanderver, Geneviève Bernard,
Background Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterised by abnormal central nervous system white matter. Mutations in POLR3A and POLR3B genes were recently reported to cause four clinically overlapping hypomyelinating leukodystrophy phenotypes. Our aim was to investigate the presence and frequency of POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with typical clinical and/or radiologic features of Pol ...
Tópico(s): melanin and skin pigmentation
2013 - BMJ | Journal of Medical Genetics
Isabelle Thiffault, Nicole I. Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée‐Adam, Christian Poitras, Bernard Brais, Grace Yoon, László Sztriha, Richard Webster, Dagmar Timmann, Bart P.C. van de Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. van der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates, Benoit Coulombe, Geneviève Bernard,
Abstract A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B . Here we report eight of these cases carrying recessive mutations in POLR1C , a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics and ChIP sequencing, we demonstrate that leukodystrophy- ...
Tópico(s): RNA modifications and cancer
2015 - Nature Portfolio | Nature Communications
Mariana Gutiérrez, Isabelle Thiffault, Kether Guerrero, Gabriel Ángel Martos‐Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M.L. van Spaendonk, Nicole I. Wolf, Geneviève Bernard,
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21–22 in one case and of exons 26–27 in another case. These are the first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and ...
Tópico(s): Nuclear Receptors and Signaling
2015 - BioMed Central | Orphanet Journal of Rare Diseases
Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias B. Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee Tien Poll‐The, Chirag Patel, Helen Cox, Tahir Atık, Hüseyin Önay, Ferda Özkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard,
To report atypical MRI patterns associated with POLR3A and POLR3B mutations.This was a multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype, i.e., diffuse hypomyelination associated with relative T2 hypointensity of the ventrolateral thalamus, globus pallidus, optic radiation, corticospinal tract at the level of the internal capsule, and dentate nucleus, cerebellar atrophy, and thinning ...
Tópico(s): Trace Elements in Health
2016 - Lippincott Williams & Wilkins | Neurology
Michinori Ōki, Hiroshi Ikeda, Shinji Toyota,
... alcohols were carried out to find the selectivities, kether/kalcohol, at various concentrations of water in an ...
Tópico(s): Analytical Chemistry and Chromatography
1998 - Oxford University Press | Bulletin of the Chemical Society of Japan
Ghalia Al Yazidi, Luan T. Tran, Kether Guerrero, Adeline Vanderver, Raphael Schiffmann, Nicole I. Wolf, Sylvain Chouinard, Geneviève Bernard,
To identify the prevalence of dystonia in a RNA Polymerase III (POLR3)-related leukodystrophy patient cohort and to further characterize their dystonic features.
Tópico(s): Conducting polymers and applications
2018 - Wiley | Movement Disorders Clinical Practice
Marisa I. Mendes, Mariana Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desirée E.C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aída Lemes, Hanna Mierzewska, Bernhard Weschke, Wolfgang Koehler, Benoit Coulombe, Nicole I. Wolf, Geneviève Bernard,
Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unrelated affected individuals with hypomyelination and bi-allelic pathogenic variants in EPRS, the gene encoding cytoplasmic glutamyl-prolyl-aminoacyl-tRNA synthetase. EPRS is a bifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of ...
Tópico(s): RNA modifications and cancer
2018 - Elsevier BV | The American Journal of Human Genetics
Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson,
Abstract Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases. VARS encodes the only known valine cytoplasmic-localized aminoacyl-tRNA synthetase. Here, we report seven patients from five unrelated families with five different biallelic missense variants in VARS . Subjects present with a range of global ...
Tópico(s): RNA Research and Splicing
2019 - Nature Portfolio | Nature Communications
Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva Fung, Stefano D’Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard,
Objective To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants. Methods A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and previously reported patients with POLR3-HLD and biallelic pathogenic variants in POLR1C . Brain MRI studies were reviewed. Results Fourteen female and 9 male patients ...
Tópico(s): RNA Research and Splicing
2019 - Wolters Kluwer | Neurology Genetics
Produção Nacional
Revisado por pares
Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P.C. van de Warrenburg, María Vázquez López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S. van der Knaap, Adeline Vanderver, Gabriel Ángel Martos‐Moreno, Constantin Polychronakos, Nicole I. Wolf, Geneviève Bernard,
Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design An international cross- ...
Tópico(s): Folate and B Vitamins Research
2020 - Oxford University Press | The Journal of Clinical Endocrinology & Metabolism
Stefanie Perrier, Laurence Gauquelin, Catherine Fallet‐Bianco, Megan K. Dishop, Mackenzie A. Michell‐Robinson, Luan T. Tran, Kether Guerrero, Lama Darbelli, Myriam Srour, Kevin Petrecca, Deborah L. Renaud, Michael Saito, Seth A. Cohen, Steffen Leiz, Bader Alhaddad, Tobias B. Haack, Ingrid Tejera-Martin, Fernando Montón, N. Rodríguez-Espinosa, Daniela Pohl, Savithri Nageswaran, Annette Grefe, Emma Glamuzina, Geneviève Bernard,
Objective To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. Methods We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were ...
Tópico(s): Cytomegalovirus and herpesvirus research
2020 - Wolters Kluwer | Neurology Genetics
Rosalina van Spaendonk, Miriam Nickel, Annette Bley, Kether Guerrero, Luan T. Tran, Marjo S. van der Knaap, Geneviève Bernard, Ferdy Kurniawan Cayami, Roberta La Piana, Nicole I. Wolf,
Objective This study aims to ascertain frequency of mutations in POLR3A or POLR3B , which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. Methods and Results In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI features. Developmental delay or intellectual disability, ataxia, and spasticity were frequent symptoms. POLR3A and POLR3B were ...
Tópico(s): Molecular Biology Techniques and Applications
2015 - Thieme Medical Publishers (Germany) | Neuropediatrics
Elżbieta Jurkiewicz, Dorota Dunin-Wąsowicz, Dorota Gieruszczak‐Białek, Katarzyna Malczyk, Kether Guerrero, Mariana Gutiérrez, Luan T. Tran, Geneviève Bernard,
The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findings and magnetic resonance imaging (MRI). Recently, mutations of the genes encoding Pol III (RNA polymerase III) subunit A (POLR3A) and subunit B (POL3B) have been identified as the genetic causes of hypomyelination. We describe two Polish female siblings aged 5 and 10 years with compound heterozygous mutations in POLR3B. They both presented with similar clinical symptoms and ...
Tópico(s): melanin and skin pigmentation
2015 - Springer Science+Business Media | Clinical Neuroradiology
Alireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, Christine Saint‐Martin, Kether Guerrero, Luan T. Tran, Eric A. Shoubridge, Marjo S. van der Knaap, Nancy Braverman, Geneviève Bernard,
Tópico(s): RNA regulation and disease
2014 - Springer Science+Business Media | Neurogenetics
Larry Stillman, Stefanie Kethers, Rebecca Lea French, Dean Lombard,
Purpose This paper aims to address the need for responsive methodologies to investigate how information and communication technologies (ICTs) are used in non‐business and non‐corporate environments. Design/methodology/approach The paper presents a case study on developing an IT strategic plan in a community organisation using the process modelling and analysis methodology called “Co‐MAP”. Findings Co‐MAP as a methodology is significant in being a participatory, responsive, and non‐obtrusive tool to ...
Tópico(s): Innovative Approaches in Technology and Social Development
2009 - Emerald Publishing Limited | VINE
Kether Guerrero, Zhiqiang Wang, Magdalena Bachvarova, Jean‐Pierre Grégoire, Marie‐Claude Renaud, Marie Plante, Dimcho Bachvarov,
Objective In an attempt to analyze more profoundly aberrant DNA hypomethylation in epithelial ovarian cancer (EOC), we applied a novel genome-based approach which includes expression profiling following pharmacologic stimulation of DNA methylation with the methyl donor S-adenosyl-l-methionine (SAM). Methods Four different EOC cell lines (OVCAR3, SKOV3, TOV21 and TOV112) were treated with SAM, and gene expression profiling was performed in SAM-treated and control EOC cells. Genes, downregulated upon ...
Tópico(s): RNA modifications and cancer
2012 - Elsevier BV | Gynecologic Oncology
Andrea Accogli, Kether Guerrero, Daniela D’Agostino, Luan T. Tran, Cécile Cieuta‐Walti, Isabelle Thiffault, Sébastien Chénier, Jeremy Schwartzentruber, Jacek Majewski, Geneviève Bernard,
AIMP1/p43, is a noncatalytic component of the mammalian multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their cognate tRNAs. AIMP1 is largely expressed in the central nervous system, where it is part of the regulatory machine of the neurofilament assembly, playing a crucial role in neuronal development and function. To date, nonsense mutations in AIMP1 have been associated with a primary neurodegenerative disorder consisting of cerebral atrophy, hypomyelination, microcephaly ...
Tópico(s): RNA Research and Splicing
2018 - SAGE Publishing | Journal of Child Neurology
Luan T. Tran, Kether Guerrero, Bernard Brais, Sébastien Lévesque, Guillaume Sébire, Émilie Riou, Geneviève Bernard, Roberta La Piana,
Aicardi–Goutières syndrome (AGS) is a rare genetic disorder with inflammatory immune-mediated pathogenesis. Disease onset is most commonly marked by recurrent fevers, irritability, and developmental regression in the 1st year of life. A stable phase characterized by severe spastic quadriparesis and cognitive deficit follows. Brain calcifications, leukoencephalopathy, and cerebral atrophy are the radiological hallmarks of AGS and often show progression over time. We present an atypical patient with ...
Tópico(s): Systemic Lupus Erythematosus Research
2014 - Thieme Medical Publishers (Germany) | Neuropediatrics
Matteo Lazzaretti, Dora Fabbro, Michela Sala, Kether Del Toso, Giulia De Vidovich, Elisa Marraffini, Niccolò Morandotti, Francesca Gambini, Francesco Barale, Matteo Balestrieri, Giuseppe Damante, Eduardo Caverzasi, Paolo Brambilla,
The objective of the present study was to test the association between Borderline Personality Disorder (BPD) and the cathecolamine-O-methyl-transferase (COMT) low-activity (Met158) single nucleotide polymorphism (SNP). In this case-control study, DNA was obtained from venous blood of 19 BPD patients and 36 healthy subjects. COMT-Val158Met single-nucleotide polymorphism was genotyped by predesigned SNP assay. The COMT Met158 allele was over-represented in patients with BPD in comparison to normal subjects ( ...
Tópico(s): Bipolar Disorder and Treatment
2013 - Taylor & Francis | Behavioral Medicine
The chemical composition of Cotula coronopifolia L. essential oils obtained from the aerial parts (flowers, leaves, stems) and roots by hydro distillation was analyzed by gas chromatography/ mass spectrum (GC/MS). Fifty seven components were identified. The most important compound detected in leaves was Agarospirol (10.43%). Hexacosane was identified in flowers with an abundance percentage of (31.7%) and 1-Eicosanol (17.1%) in stem. The major constituents identified in the root oils were Heptacosane ( ...
Tópico(s): Natural product bioactivities and synthesis
2012 - Academic Journals | African Journal of Microbiology Research
Emily Dermer, Aaron Spahr, Luan T. Tran, Amytice Mirchi, Félixe Pelletier, Kether Guerrero, Sana Ahmed, Bernard Brais, Nancy Braverman, Daniela Buhaş, Saleel Chandratre, Sébastien Chénier, Nicolas Chrestian, Marie DesMeules, M. E. Dilenge, Jonathan Laflamme, Albert Larbrisseau, Geneviève Legault, Ki Young Lim, Catalina Maftei, Philippe Major, E. Malvey-Dorn, P Marois, John J. Mitchell, Amélie Nadeau, B. Österman, Irvin L. Paradis, Daniela Pohl, James D. Reggin, Émilie Riou, G. Roedde, Elsa Rossignol, Guillaume Sébire, Michael Shevell, Myriam Srour, Sylvain Max, Mark A. Tarnopolsky, S Venkateswaran, Michael J. Sullivan, Geneviève Bernard,
Genetically determined leukoencephalopathies comprise a group of rare inherited white matter disorders. The majority are progressive diseases resulting in early death. We performed a cross-sectional pilot study including 55 parents from 36 families to assess the level of stress experienced by parents of patients with genetically determined leukoencephalopathies, aged 1 month to 12 years. Thirty-four mothers and 21 fathers completed the Parenting Stress Index–4th Edition. One demographic questionnaire ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2020 - SAGE Publishing | Journal of Child Neurology
Tom Denison, Stefanie Kethers, Nicholas McPhee,
Within Australia there is a growing interest in e-research and the use of cyberinfrastructure. There is also increasing recognition that the use of cyberinfrastructure is often inhibited, not by technical issues, but by socalled ‘soft’ issues, such as those related to work practices, intellectual property issues, the nature of research collaboration, and institutional imperatives. This paper reports on aspects of DART (Dataset Acquisition, Accessibility and Annotation e-Research Technologies), a current ...
Tópico(s): scientometrics and bibliometrics research
2007 - Routledge | Australian Academic & Research Libraries