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	1.	A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. [electronic resource] by Pénisson-Besnier, Isabelle Monnier, Nicole Toutain, Annick Dubas, Frédéric Laing, Nigel Producer: 20070710 In: Neuromuscular disorders : NMD vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. [electronic resource] by Pénisson-Besnier, Isabelle Biancalana, Valérie Reynier, Pascal Cossée, Mireille Dubas, Frédéric Producer: 20070416 In: Neuromuscular disorders : NMD vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A myopathy-related actin mutation increases contractile function. [electronic resource] by Lindqvist, Johan Pénisson-Besnier, Isabelle Iwamoto, Hiroyuki Li, Meishan Yagi, Naoto Ochala, Julien Producer: 20120801 In: Acta neuropathologica vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. [electronic resource] by Pénisson-Besnier, Isabelle Lebouvier, Thibaud Moizard, Marie-Pierre Ferré, Marc Barth, Magalie Marc, Guillaume Raynaud, Martine Bonneau, Dominique Producer: 20080313 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis. [electronic resource] by Pénisson-Besnier, Isabelle Saint-André, Jean-Paul Hicks, Debbie Sarkozy, Anna Croué, Anne Hudson, Judith Lochmüller, Hanns Dubas, Frédéric Producer: 20130128 In: Journal of neurology vol. 259 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Myotilinopathy in a family with late onset myopathy. [electronic resource] by Pénisson-Besnier, Isabelle Talvinen, Kati Dumez, Catherine Vihola, Anna Dubas, Frédéric Fardeau, Michel Hackman, Peter Carpen, Olli Udd, Bjarne Producer: 20061010 In: Neuromuscular disorders : NMD vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. [electronic resource] by Ochala, Julien Gokhin, David S Pénisson-Besnier, Isabelle Quijano-Roy, Susana Monnier, Nicole Lunardi, Joël Romero, Norma B Fowler, Velia M Producer: 20130621 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation. [electronic resource] by Gentil, Christel Leturcq, France Ben Yaou, Rabah Kaplan, Jean-Claude Laforet, Pascal Pénisson-Besnier, Isabelle Espil-Taris, Caroline Voit, Thomas Garcia, Luis Piétri-Rouxel, France Producer: 20130625 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. [electronic resource] by Ochala, Julien Lehtokari, Vilma-Lotta Iwamoto, Hiroyuki Li, Meishan Feng, Han-Zhong Jin, Jian-Ping Yagi, Naoto Wallgren-Pettersson, Carina Pénisson-Besnier, Isabelle Larsson, Lars Producer: 20110818 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. [electronic resource] by Gaudon, Karen Pénisson-Besnier, Isabelle Chabrol, Brigitte Bouhour, Françoise Demay, Laurence Ben Ammar, Asma Bauché, Stéphanie Vial, Christophe Nicolas, Guillaume Eymard, Bruno Hantaï, Daniel Richard, Pascale Producer: 20110302 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). [electronic resource] by Hackman, Peter Marchand, Sylvie Sarparanta, Jaakko Vihola, Anna Pénisson-Besnier, Isabelle Eymard, Bruno Pardal-Fernández, Jose Manuel Hammouda, El-Hadi Richard, Isabelle Illa, Isabel Udd, Bjarne Producer: 20090319 In: Neuromuscular disorders : NMD vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. [electronic resource] by Vezain, Myriam Saugier-Veber, Pascale Melki, Judith Toutain, Annick Bieth, Eric Husson, Marie Pedespan, Jean-Michel Viollet, Louis Pénisson-Besnier, Isabelle Fehrenbach, Séverine Bou, Jacqueline Frébourg, Thierry Tosi, Mario Producer: 20071121 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Compound heterozygous mutations of the TNXB gene cause primary myopathy. [electronic resource] by Pénisson-Besnier, Isabelle Allamand, Valérie Beurrier, Philippe Martin, Ludovic Schalkwijk, Joost van Vlijmen-Willems, Ivonne Gartioux, Corine Malfait, Fransiska Syx, Delfien Macchi, Laurent Marcorelles, Pascale Arbeille, Brigitte Croué, Anne De Paepe, Anne Dubas, Frédéric Producer: 20140305 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. [electronic resource] by Laforêt, Pascal Acquaviva-Bourdain, Cécile Rigal, Odile Brivet, Michèle Penisson-Besnier, Isabelle Chabrol, Brigitte Chaigne, Denys Boespflug-Tanguy, Odile Laroche, Cécile Bedat-Millet, Anne-Laure Behin, Anthony Delevaux, Isabelle Lombès, Anne Andresen, Brage S Eymard, Bruno Vianey-Saban, Christine Producer: 20090728 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. [electronic resource] by Stojkovic, Tanya Hammouda, El Hadi Richard, Pascale López de Munain, Adolfo Ruiz-Martinez, Javier Camaño, Pilar Gonzalez, Pilar Camaño Laforêt, Pascal Pénisson-Besnier, Isabelle Ferrer, Xavier Lacour, Arnaud Lacomblez, Lucette Claeys, Kristl G Maurage, Claude-Alain Fardeau, Michel Eymard, Bruno Producer: 20090728 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. [electronic resource] by Böhm, Johann Chevessier, Frédéric Koch, Catherine Peche, G Arielle Mora, Marina Morandi, Lucia Pasanisi, Barbara Moroni, Isabella Tasca, Giorgio Fattori, Fabiana Ricci, Enzo Pénisson-Besnier, Isabelle Nadaj-Pakleza, Aleksandra Fardeau, Michel Joshi, Pushpa Raj Deschauer, Marcus Romero, Norma Beatriz Eymard, Bruno Laporte, Jocelyn Producer: 20150709 In: Journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing. [electronic resource] by Nectoux, Juliette de Cid, Rafael Baulande, Sylvain Leturcq, France Urtizberea, Jon Andoni Penisson-Besnier, Isabelle Nadaj-Pakleza, Aleksandra Roudaut, Carinne Criqui, Audrey Orhant, Lucie Peyroulan, Delphine Ben Yaou, Raba Nelson, Isabelle Cobo, Anna Maria Arné-Bes, Marie-Christine Uro-Coste, Emmanuelle Nitschke, Patrick Claustres, Mireille Bonne, Gisèle Lévy, Nicolas Chelly, Jamel Richard, Isabelle Cossée, Mireille Producer: 20160401 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa. [electronic resource] by Desdouits, Marion Cassar, Olivier Maisonobe, Thierry Desrames, Alexandra Aouba, Achille Hermine, Olivier Mikol, Jacqueline Polivka, Marc Penisson-Besnier, Isabelle Marcorelles, Pascale Zagnoli, Fabien Papo, Thomas Lacour, Arnaud Amoura, Zahir Haroche, Julien Cherin, Patrick Teixeira, Antonio Benveniste, Olivier Herson, Serge Morin, Anne-Sophie Mortreux, Franck Wattel, Eric Huerre, Michel Cumont, Marie-Christine Martin-Latil, Sandra Butler-Browne, Gillian Gout, Olivier Taylor, Graham Gessain, Antoine Ozden, Simona Ceccaldi, Pierre-Emmanuel Producer: 20140204 In: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Early onset collagen VI myopathies: Genetic and clinical correlations. [electronic resource] by Briñas, Laura Richard, Pascale Quijano-Roy, Susana Gartioux, Corine Ledeuil, Céline Lacène, Emmanuelle Makri, Samira Ferreiro, Ana Maugenre, Svetlana Topaloglu, Haluk Haliloglu, Göknur Pénisson-Besnier, Isabelle Jeannet, Pierre-Yves Merlini, Luciano Navarro, Carmen Toutain, Annick Chaigne, Denys Desguerre, Isabelle de Die-Smulders, Christine Dunand, Murielle Echenne, Bernard Eymard, Bruno Kuntzer, Thierry Maincent, Kim Mayer, Michèle Plessis, Ghislaine Rivier, François Roelens, Filip Stojkovic, Tanya Taratuto, Ana Lía Lubieniecki, Fabiana Monges, Soledad Tranchant, Christine Viollet, Louis Romero, Norma B Estournet, Brigitte Guicheney, Pascale Allamand, Valérie Producer: 20101112 In: Annals of neurology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. [electronic resource] by Sarkozy, Anna Hicks, Debbie Hudson, Judith Laval, Steve H Barresi, Rita Hilton-Jones, David Deschauer, Marcus Harris, Elizabeth Rufibach, Laura Hwang, Esther Bashir, Rumaisa Walter, Maggie C Krause, Sabine van den Bergh, Peter Illa, Isabel Pénisson-Besnier, Isabelle De Waele, Liesbeth Turnbull, Doug Guglieri, Michela Schrank, Bertold Schoser, Benedikt Seeger, Jürgen Schreiber, Herbert Gläser, Dieter Eagle, Michelle Bailey, Geraldine Walters, Richard Longman, Cheryl Norwood, Fiona Winer, John Muntoni, Francesco Hanna, Michael Roberts, Mark Bindoff, Laurence A Brierley, Charlotte Cooper, Robert G Cottrell, David A Davies, Nick P Gibson, Andrew Gorman, Gráinne S Hammans, Simon Jackson, Andrew P Khan, Aijaz Lane, Russell McConville, John McEntagart, Meriel Al-Memar, Ali Nixon, John Panicker, Jay Parton, Matt Petty, Richard Price, Christopher J Rakowicz, Wojtek Ray, Partha Schapira, Anthony H Swingler, Robert Turner, Chris Wagner, Kathryn R Maddison, Paul Shaw, Pamela J Straub, Volker Bushby, Kate Lochmüller, Hanns Producer: 20140122 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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