Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Eric Bieth"'
Autor:
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal musc
Externí odkaz:
https://doaj.org/article/5cf31dd78b474640baaf16ef899f028a
Autor:
Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellula
Externí odkaz:
https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196
Autor:
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1815 (2022)
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features ca
Externí odkaz:
https://doaj.org/article/a6bf93b9a5034f0c9761191d3399a9b9
Autor:
Mathieu Marty, Carole Bonnaud, Natalie Jones, Michel Longy, Frédéric Vaysse, Eric Bieth, Isabelle Bailleul-Forestier
Publikováno v:
Case Reports in Dentistry, Vol 2020 (2020)
Background. Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene. Aim. To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes.
Externí odkaz:
https://doaj.org/article/1fa5c862665544f4880033d48fb8415f
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
Autor:
Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype‐phenotype correlations have yet been established. PRPS
Externí odkaz:
https://doaj.org/article/05a601576c47418285dc056a4e941d06
Autor:
Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairmen
Externí odkaz:
https://doaj.org/article/fdb0f976071c48fd91636d29f0c9cf51
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Abstract Background PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. Methods Dat
Externí odkaz:
https://doaj.org/article/6204eb1919ad48bebf22a701788ab321
Autor:
Aurore Curie, Amandine Brun, Anne Cheylus, Anne Reboul, Tatjana Nazir, Gérald Bussy, Karine Delange, Yves Paulignan, Sandra Mercier, Albert David, Stéphanie Marignier, Lydie Merle, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Isabelle Mortemousque, Annick Toutain, Eric Bieth, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Jian Kong, Daniel Ott, Behrouz Kassai, Nouchine Hadjikhani, Randy L Gollub, Vincent des Portes
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)
BACKGROUND:Intellectual Disability (ID) is characterized by deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, and learning. As new avenues are emerging for treatment of genetically determine
Externí odkaz:
https://doaj.org/article/eff7ff0e7b314ab4a5f62e676d4d5faf
Autor:
Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicole Monnier, Jean-Paul Bonnefont, Albert Iron, Eric Bieth, Viviane Dumur, Christine Clavel, Cécile Cazeneuve, Emmanuelle Girodon
Publikováno v:
Human Mutation; Oct2003, Vol. 22 Issue 4, p340, 1p