keyword
https://read.qxmd.com/read/38501567/boosting-gas-phase-tio-2-photocatalysis-with-weak-electric-field-strengths-of-volt-centimeter
#1
JOURNAL ARTICLE
My Nghe Tran, Myriam Moreau, Ahmed Addad, Adrien Teurtrie, Thomas Roland, Vincent de Waele, Marc Dewitte, Louis Thomas, Gaëtan Levêque, Chunyang Dong, Pardis Simon, Karima Ben Tayeb, David Mele, Vitaly Ordomsky, Bruno Grandidier
Among semiconductor nanomaterials, titanium dioxide is at the forefront of heterogeneous photocatalysis, but its catalytic activity greatly suffers from the loss of photoexcited charge carriers through deleterious recombination processes. Here, we investigate the impact of an external electric field (EEF) applied to conventional P25 TiO2 nanopowder with or without Au nanoparticles (NPs) to circumvent this issue. The study of two redox reactions in the gas phase, water splitting and toluene degradation, reveals an enhancement of the photocatalytic activity with rather modest electric fields of a few volt/centimeters only...
March 19, 2024: ACS Applied Materials & Interfaces
https://read.qxmd.com/read/38118446/bi-allelic-genetic-variants-in-the-translational-gtpases-gtpbp1-and-gtpbp2-cause-a-distinct-identical-neurodevelopmental-syndrome
#2
JOURNAL ARTICLE
Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi, Jenny C Taylor, Gabriela Oprea, Volha Skrahina, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G El Said, Mohamed S Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y Issa, Hasnaa M Elbendary, Karima Rafat, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson, Aida Bertoli-Avella, Alistair T Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K Chung, Rachel Green, Fowzan S Alkuraya, James E C Jepson, Henry Houlden
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders...
December 19, 2023: American Journal of Human Genetics
https://read.qxmd.com/read/37283933/golgi-localization-of-sars-cov-2-spike-protein-and-interaction-with-furin-in-cerebral-covid-19-microangiopathy-a-clue-to-the-central-nervous-system-involvement
#3
JOURNAL ARTICLE
Susana Boluda, Karima Mokhtari, Bruno Mégarbane, Djillali Annane, Bertrand Mathon, Albert Cao, Clovis Adam, Alexandre Androuin, Franck Bielle, Guy Brochier, Frédéric Charlotte, Lydia Chougar, Khalid Hamid El Hachimi, Marc Eloit, Stéphane Haïk, Dominique Hervé, Amal Kasri, Valentin Leducq, Stéphane Lehéricy, Etienne Levavasseur, Christian Lobsiger, Geoffroy Lorin de La Grandmaison, Isabelle Malet, Isabelle Malissin, Stéphane Marot, Serge Marty, Philippe Pérot, Isabelle Plu, Annick Prigent, Lev Stimmer, Marie-Claude Potier, Anne-Geneviève Marcelin, Benoît Delatour, Charles Duyckaerts, Danielle Seilhean
In a neuropathological series of 20 COVID-19 cases, we analyzed six cases (three biopsies and three autopsies) with multiple foci predominantly affecting the white matter as shown by MRI. The cases presented with microhemorrhages evocative of small artery diseases. This COVID-19 associated cerebral microangiopathy (CCM) was characterized by perivascular changes: arterioles were surrounded by vacuolized tissue, clustered macrophages, large axonal swellings and a crown arrangement of aquaporin-4 immunoreactivity...
January 2023: Free neuropathology
https://read.qxmd.com/read/35411016/selection-of-a-novel-strain-of-christensenella-minuta-as-a-future-biotherapy-for-crohn-s-disease
#4
JOURNAL ARTICLE
Karima Relizani, Katy Le Corf, Camille Kropp, Rebeca Martin-Rosique, Déborah Kissi, Guillaume Déjean, Lisa Bruno, Ccori Martinez, Georges Rawadi, Frédéric Elustondo, Wilfrid Mazier, Sandrine P Claus
Microbiome-based therapies for inflammatory bowel diseases offer a novel and promising therapeutic approach. The human commensal bacteria of the species Christensenella minuta (C. minuta) have been reported consistently missing in patients affected by Crohn's disease (CD) and have been documented to induce anti-inflammatory effects in human epithelial cells, supporting their potential as a novel biotherapy. This work aimed at selecting the most promising strain of C. minuta for future development as a clinical candidate for CD therapy...
April 11, 2022: Scientific Reports
https://read.qxmd.com/read/33956885/red-list-assessment-of-amphibian-species-of-ecuador-a-multidimensional-approach-for-their-conservation
#5
JOURNAL ARTICLE
H Mauricio Ortega-Andrade, Marina Rodes Blanco, Diego F Cisneros-Heredia, Nereida Guerra Arévalo, Karima Gabriela López de Vargas-Machuca, Juan C Sánchez-Nivicela, Diego Armijos-Ojeda, José Francisco Cáceres Andrade, Carolina Reyes-Puig, Amanda Belén Quezada Riera, Paul Székely, Octavio R Rojas Soto, Diana Székely, Juan M Guayasamin, Fausto Rodrigo Siavichay Pesántez, Luis Amador, Raquel Betancourt, Salomón M Ramírez-Jaramillo, Bruno Timbe-Borja, Miguel Gómez Laporta, Juan Fernando Webster Bernal, Luis Alfredo Oyagata Cachimuel, Daniel Chávez Jácome, Valentina Posse, Carlos Valle-Piñuela, Daniel Padilla Jiménez, Juan Pablo Reyes-Puig, Andrea Terán-Valdez, Luis A Coloma, Ma Beatriz Pérez Lara, Sofía Carvajal-Endara, Miguel Urgilés, Mario H Yánez Muñoz
Ecuador is one of the most biodiverse countries in the world, but faces severe pressures and threats to its natural ecosystems. Numerous species have declined and require to be objectively evaluated and quantified, as a step towards the development of conservation strategies. Herein, we present an updated National Red List Assessment for amphibian species of Ecuador, with one of the most detailed and complete coverages for any Ecuadorian taxonomic group to date. Based on standardized methodologies that integrate taxonomic work, spatial analyses, and ecological niche modeling, we assessed the extinction risk and identified the main threats for all Ecuadorian native amphibians (635 species), using the IUCN Red List Categories and Criteria...
2021: PloS One
https://read.qxmd.com/read/33756547/sars-cov-2-seroprevalence-in-a-french-kidney-transplant-center-located-within-a-high-risk-zone
#6
JOURNAL ARTICLE
Sophie Caillard, Ilies Benotmane, Céline Meidinger, Vanessa Jegou, Sandra Ludwiller, Anne Rihon, Audrey Desmarquets, Lucille Steinmetz, Murielle Morvan, Karima Kedjam, Amandine Bigot, Danielle Roy, Dominique Schmitt, David Marx, Xavier Bassand, Peggy Perrin, Gabriela Gautier Vargas, Noelle Cognard, Jérome Olagne, Laura Braun, Francoise Heibel, Jonas Martzloff, Bruno Moulin, Samira Fafi Kremer
BACKGROUND: Data on SARS-CoV-2 seroprevalence in kidney transplant recipients (KTR) remain rare. We sought to shed further light on this issue by conducting a single-center study in a kidney transplant center located in one of the France's highest risk zone (Grand Est) for Covid-19 during the initial disease outbreak. METHOD: To this aim, we used a survey approach coupled with systematic investigation of SARS-CoV-2 serology in a cohort of 1390 KTR. RESULTS: SARS-CoV-2 serologies were available for 780 survey respondents, among whom 48 had anti-SARS-CoV-2 antibodies (total seroprevalence: 6...
March 22, 2021: Transplantation
https://read.qxmd.com/read/33713625/in-vitro-immunoregulatory-activity-and-anti-inflammatory-effect-of-echinococcus-granulosus-laminated-layer
#7
JOURNAL ARTICLE
Sara Benazzouz, Manel Amri, Junhua Wang, Samia Bouaziz, Fahima Ameur, Sara Djebbara, Karima Achour, Bruno Gottstein, Chafia Touil-Boukoffa
The Laminated layer of Echinococcus granulosus (LL) is the outer layer of the hydatic cyst. It plays a pivotal role in protecting the metacestode from host immunity. In our current study, we investigated the immunomodulatory effect of the LL on mouse spleen cells in presence of Lipopolysaccharide (LPS). Mouse spleen cells were cultured with or without LL in presence of LPS. After 24 h, the nitrites level representative of Nitric oxide (NO) production was measured in the culture supernatant by Griess-modified method...
June 2021: Acta Tropica
https://read.qxmd.com/read/32069933/immunoglobulin-abnormalities-in-gaucher-disease-an-analysis-of-278-patients-included-in-the-french-gaucher-disease-registry
#8
JOURNAL ARTICLE
Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, Bérengère Cador, Monia Bengherbia, Karima Yousfi, Dalil Hamroun, Leonardo Astudillo, Thierry Billette de Villemeur, Anaïs Brassier, Fabrice Camou, Florence Dalbies, Dries Dobbelaere, Francis Gaches, Vanessa Leguy-Seguin, Agathe Masseau, Yves-Marie Pers, Samia Pichard, Christine Serratrice, Marc G Berger, Bruno Fantin, Nadia Belmatoug, On Behalf Of The French Evaluation Of Gaucher Disease Treatment Committee
Gaucher disease (GD) is a rare lysosomal autosomal-recessive disorder due to deficiency of glucocerebrosidase; polyclonal gammopathy (PG) and/or monoclonal gammopathy (MG) can occur in this disease. We aimed to describe these immunoglobulin abnormalities in a large cohort of GD patients and to study the risk factors, clinical significance, and evolution. Data for patients enrolled in the French GD Registry were studied retrospectively. The risk factors of PG and/or MG developing and their association with clinical bone events and severe thrombocytopenia, two markers of GD severity, were assessed with multivariable Cox models and the effect of GD treatment on gammaglobulin levels with linear/logarithmic mixed models...
February 13, 2020: International Journal of Molecular Sciences
https://read.qxmd.com/read/31526369/vibration-of-effects-from-diverse-inclusion-exclusion-criteria-and-analytical-choices-9216-different-ways-to-perform-an-indirect-comparison-meta-analysis
#9
JOURNAL ARTICLE
Clément Palpacuer, Karima Hammas, Renan Duprez, Bruno Laviolle, John P A Ioannidis, Florian Naudet
BACKGROUND: Different methodological choices such as inclusion/exclusion criteria and analytical models can yield different results and inferences when meta-analyses are performed. We explored the range of such differences, using several methodological choices for indirect comparison meta-analyses to compare nalmefene and naltrexone in the reduction of alcohol consumption as a case study. METHODS: All double-blind randomized controlled trials (RCTs) comparing nalmefene to naltrexone or one of these compounds to a placebo in the treatment of alcohol dependence or alcohol use disorders were considered...
September 16, 2019: BMC Medicine
https://read.qxmd.com/read/31469207/primary-ciliary-dyskinesia-gene-contribution-in-tunisia-identification-of-a-major-mediterranean-allele
#10
JOURNAL ARTICLE
Rahma Mani, Sabrina Belkacem, Zohra Soua, Sandra Chantot, Guy Montantin, Sylvie Tissier, Bruno Copin, Jihene Bouguila, Nicolas Rive Le Gouard, Lamia Boughamoura, Salma Ben Ameur, Mongia Hachicha, Raoudha Boussoffara, Khadija Boussetta, Samia Hammouda, Abir Bedoui, Habib Besbes, Seif Meddeb, Karima Chraeit, Monia Khlifa, Estelle Escudier, Serge Amselem, Imed Mabrouk, Marie Legendre
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed...
January 2020: Human Mutation
https://read.qxmd.com/read/30092648/neuronal-injuries-evidenced-by-transient-cortical-magnetic-resonance-enhancement-in-hemiplegic-migraine-a-case-report
#11
JOURNAL ARTICLE
Arnaud Pellerin, Clémence Marois, Nicolas Mezouar, Karima Mokhtari, Delphine Leclercq, Bruno Law-Ye
BACKGROUND: Magnetic resonance imaging abnormalities in hemiplegic migraine have been described previously but were limited to a cortical thickening and biphasic alternation of hypoperfusion and hyperperfusion. Our report reveals possible blood-brain barrier disruption during migraine. CASE: We present the first demonstrated case of regressive diffuse hemispheric cortical enhancement in sporadic hemiplegic migraine, with histological correlation revealing neuronal lesions similar to ischemic lesions...
February 2019: Cephalalgia: An International Journal of Headache
https://read.qxmd.com/read/30061698/the-exerkine-apelin-reverses-age-associated-sarcopenia
#12
RANDOMIZED CONTROLLED TRIAL
Claire Vinel, Laura Lukjanenko, Aurelie Batut, Simon Deleruyelle, Jean-Philippe Pradère, Sophie Le Gonidec, Alizée Dortignac, Nancy Geoffre, Ophelie Pereira, Sonia Karaz, Umji Lee, Mylène Camus, Karima Chaoui, Etienne Mouisel, Anne Bigot, Vincent Mouly, Mathieu Vigneau, Allan F Pagano, Angèle Chopard, Fabien Pillard, Sophie Guyonnet, Matteo Cesari, Odile Burlet-Schiltz, Marco Pahor, Jerome N Feige, Bruno Vellas, Philippe Valet, Cedric Dray
Sarcopenia, the degenerative loss of skeletal muscle mass, quality and strength, lacks early diagnostic tools and new therapeutic strategies to prevent the frailty-to-disability transition often responsible for the medical institutionalization of elderly individuals. Herein we report that production of the endogenous peptide apelin, induced by muscle contraction, is reduced in an age-dependent manner in humans and rodents and is positively associated with the beneficial effects of exercise in older persons...
September 2018: Nature Medicine
https://read.qxmd.com/read/29432597/identification-of-novel-recurrent-etv6-igh-fusions-in-primary-central-nervous-system-lymphoma
#13
JOURNAL ARTICLE
Aurélie Bruno, Karim Labreche, Maïlys Daniau, Blandine Boisselier, Guillaume Gauchotte, Louis Royer-Perron, Amithys Rahimian, Frédéric Lemoine, Pierre de la Grange, Justine Guégan, Franck Bielle, Marc Polivka, Clovis Adam, David Meyronet, Dominique Figarella-Branger, Chiara Villa, Fabrice Chrétien, Sandrine Eimer, Frédéric Davi, Audrey Rousseau, Caroline Houillier, Carole Soussain, Karima Mokhtari, Khê Hoang-Xuan, Agusti Alentorn
Background: Primary central nervous system lymphoma (PCNSL) represents a particular entity within non-Hodgkin lymphomas and is associated with poor outcome. The present study addresses the potential clinical relevance of chimeric transcripts in PCNSL discovered by using RNA sequencing (RNA-seq). Methods: Seventy-two immunocompetent and newly diagnosed PCNSL cases were included in the present study. Among them, 6 were analyzed by RNA-seq to detect new potential fusion transcripts...
July 5, 2018: Neuro-oncology
https://read.qxmd.com/read/28676789/importance-of-the-sequence-directed-dna-shape-for-specific-binding-site-recognition-by-the-estrogen-related-receptor
#14
JOURNAL ARTICLE
Kareem Mohideen-Abdul, Karima Tazibt, Maxime Bourguet, Isabelle Hazemann, Isabelle Lebars, Maria Takacs, Sarah Cianférani, Bruno P Klaholz, Dino Moras, Isabelle M L Billas
Most nuclear receptors (NRs) bind DNA as dimers, either as hetero- or as homodimers on DNA sequences organized as two half-sites with specific orientation and spacing. The dimerization of NRs on their cognate response elements (REs) involves specific protein-DNA and protein-protein interactions. The estrogen-related receptor (ERR) belongs to the steroid hormone nuclear receptor (SHR) family and shares strong similarity in its DNA-binding domain (DBD) with that of the estrogen receptor (ER). In vitro, ERR binds with high affinity inverted repeat REs with a 3-bps spacing (IR3), but in vivo, it preferentially binds to single half-site REs extended at the 5'-end by 3 bp [estrogen-related response element (ERREs)], thus explaining why ERR was often inferred as a purely monomeric receptor...
2017: Frontiers in Endocrinology
https://read.qxmd.com/read/28641151/%C3%AE-tip-aquaporin-distribution-and-size-tonoplast-variation-in-storage-cells-of-vicia-faba-cotyledons-at-seed-maturation-and-germination-stages
#15
JOURNAL ARTICLE
Emile Béré, Karima Lahbib, Bruno Merceron, Pierrette Fleurat-Lessard, Néziha Ghanem Boughanmi
Vacuoles have been shown to undergo deep modifications in relation to plant developmental stages and in the maintaining the cellular homeostasis. In this context, we studied the variations of the vacuolar membrane size and α-TIP aquaporin distribution at early and advanced seed stages of maturation, germination and embryo growth in Vicia faba cotyledon storage cells.
September 2017: Journal of Plant Physiology
https://read.qxmd.com/read/28296682/causes-and-characteristics-of-death-in-intensive-care-units-a-prospective-multicenter-study
#16
MULTICENTER STUDY
Jean-Christophe Orban, Yannick Walrave, Nicolas Mongardon, Bernard Allaouchiche, Laurent Argaud, Frédéric Aubrun, Geneviève Barjon, Jean-Michel Constantin, Gilles Dhonneur, Jacques Durand-Gasselin, Hervé Dupont, Michèle Genestal, Chloé Goguey, Philippe Goutorbe, Bertrand Guidet, Hervé Hyvernat, Samir Jaber, Jean-Yves Lefrant, Yannick Mallédant, Jerôme Morel, Alexandre Ouattara, Nicolas Pichon, Anne-Marie Guérin Robardey, Michel Sirodot, Alexandre Theissen, Sandrine Wiramus, Laurent Zieleskiewicz, Marc Leone, Carole Ichai
BACKGROUND: Different modes of death are described in selected populations, but few data report the characteristics of death in a general intensive care unit population. This study analyzed the causes and characteristics of death of critically ill patients and compared anticipated death patients to unexpected death counterparts. METHODS: An observational multicenter cohort study was performed in 96 intensive care units. During 1 yr, each intensive care unit was randomized to participate during a 1-month period...
May 2017: Anesthesiology
https://read.qxmd.com/read/27730650/the-integrative-role-of-cryo-electron-microscopy-in-molecular-and-cellular-structural-biology
#17
REVIEW
Igor Orlov, Alexander G Myasnikov, Leonid Andronov, S Kundhavai Natchiar, Heena Khatter, Brice Beinsteiner, Jean-François Ménétret, Isabelle Hazemann, Kareem Mohideen, Karima Tazibt, Rachel Tabaroni, Hanna Kratzat, Nadia Djabeur, Tatiana Bruxelles, Finaritra Raivoniaina, Lorenza di Pompeo, Morgan Torchy, Isabelle Billas, Alexandre Urzhumtsev, Bruno P Klaholz
After gradually moving away from preparation methods prone to artefacts such as plastic embedding and negative staining for cell sections and single particles, the field of cryo electron microscopy (cryo-EM) is now heading off at unprecedented speed towards high-resolution analysis of biological objects of various sizes. This 'revolution in resolution' is happening largely thanks to new developments of new-generation cameras used for recording the images in the cryo electron microscope which have much increased sensitivity being based on complementary metal oxide semiconductor devices...
February 2017: Biology of the Cell
https://read.qxmd.com/read/27704067/mid-infrared-fibre-evanescent-wave-spectroscopy-of-serum-allows-fingerprinting-of-the-hepatic-metabolic-status-in-mice
#18
JOURNAL ARTICLE
Maëna Le Corvec, Coralie Allain, Salim Lardjane, Thibault Cavey, Bruno Turlin, Alain Fautrel, Karima Begriche, Valérie Monbet, Bernard Fromenty, Patricia Leroyer, Pascal Guggenbuhl, Martine Ropert, Olivier Sire, Olivier Loréal
Non-alcoholic fatty liver disease is associated with obesity, diabetes, and metabolic syndrome. The detection of systemic metabolic changes associated with alterations in the liver status during non-alcoholic fatty liver disease could improve patient follow-up. The aim of the present study was to evaluate the potential of mid-infrared fibre evanescent wave spectroscopy as a minimum-invasive method for evaluating the liver status during non-alcoholic fatty liver disease. Seventy-five mice were subjected to a control, high-fat or high-fat-high carbohydrate diets...
October 24, 2016: Analyst
https://read.qxmd.com/read/26849574/gender-as-a-modifying-factor-influencing-myotonic-dystrophy-type-1-phenotype-severity-and-mortality-a-nationwide-multiple-databases-cross-sectional-observational-study
#19
JOURNAL ARTICLE
Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity...
2016: PloS One
https://read.qxmd.com/read/26659129/a-recessive-nav1-4-mutation-underlies-congenital-myasthenic-syndrome-with-periodic-paralysis
#20
JOURNAL ARTICLE
Karima Habbout, Hugo Poulin, François Rivier, Serena Giuliano, Damien Sternberg, Bertrand Fontaine, Bruno Eymard, Raul Juntas Morales, Bernard Echenne, Louise King, Michael G Hanna, Roope Männikkö, Mohamed Chahine, Sophie Nicole, Said Bendahhou
OBJECTIVE: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient. METHODS: The proband was evaluated clinically and neurophysiologically over a period of 15 years. Genetic testing of candidate genes was performed. Functional characterization of the candidate mutation was done in mammalian cell background using whole cell patch clamp technique. RESULTS: The proband had fatigable muscle weakness characteristic of congenital myasthenic syndrome with acute and reversible attacks of most severe muscle weakness as observed in periodic paralysis...
January 12, 2016: Neurology
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