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	1.	186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. [electronic resource] by Chaouch, Amina Beeson, David Hantaï, Daniel Lochmüller, Hanns Producer: 20120917 In: Neuromuscular disorders : NMD vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. [electronic resource] by Barišić, Nina Chaouch, Amina Müller, Juliane S Lochmüller, Hanns Producer: 20120326 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface. [electronic resource] by Webster, Richard Liu, Wei-Wei Chaouch, Amina Lochmüller, Hanns Beeson, David Producer: 20141029 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Presymptomatic late-onset Pompe disease identified by the dried blood spot test. [electronic resource] by Wagner, Matias Chaouch, Amina Müller, Juliane S Polvikoski, Tuomo Willis, Tracey A Sarkozy, Anna Eagle, Michelle Bushby, Kate Straub, Volker Lochmüller, Hanns Producer: 20130904 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. [electronic resource] by Lorenzoni, Paulo J Scola, Rosana H Kay, Cláudia S K Filla, Luciane Miranda, Anna P P Pinheiro, João M R Chaouch, Amina Lochmüller, Hanns Werneck, Lineu C Producer: 20140207 In: Journal of the neurological sciences vol. 331 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. [electronic resource] by Abicht, Angela Dusl, Marina Gallenmüller, Constanze Guergueltcheva, Velina Schara, Ulrike Della Marina, Adele Wibbeler, Eva Almaras, Sybille Mihaylova, Violeta von der Hagen, Maja Huebner, Angela Chaouch, Amina Müller, Juliane S Lochmüller, Hanns Producer: 20130705 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. [electronic resource] by Chaouch, Amina Müller, Juliane S Guergueltcheva, Velina Dusl, Marina Schara, Ulrike Rakocević-Stojanović, Vidosava Lindberg, Christopher Scola, Rosana H Werneck, Lineu C Colomer, Jaume Nascimento, Andres Vilchez, Juan J Muelas, Nuria Argov, Zohar Abicht, Angela Lochmüller, Hanns Producer: 20120703 In: Journal of neurology vol. 259 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Fibronectin is a serum biomarker for Duchenne muscular dystrophy. [electronic resource] by Cynthia Martin, F Hiller, Monika Spitali, Pietro Oonk, Stijn Dalebout, Hans Palmblad, Magnus Chaouch, Amina Guglieri, Michela Straub, Volker Lochmüller, Hanns Niks, Erik H Verschuuren, Jan J G M Aartsma-Rus, Annemieke Deelder, André M van der Burgt, Yuri E M 't Hoen, Peter A C Producer: 20150402 In: Proteomics. Clinical applications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Two recurrent mutations are associated with GNE myopathy in the North of Britain. [electronic resource] by Chaouch, Amina Brennan, Kathryn M Hudson, Judith Longman, Cheryl McConville, John Morrison, Patrick J Farrugia, Maria E Petty, Richard Stewart, Willie Norwood, Fiona Horvath, Rita Chinnery, Patrick F Costigan, Donald Winer, John Polvikoski, Tuomo Healy, Estelle Sarkozy, Anna Evangelista, Teresinha Pogoryelova, Oksana Eagle, Michelle Bushby, Kate Straub, Volker Lochmüller, Hanns Producer: 20150206 In: Journal of neurology, neurosurgery, and psychiatry vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. [electronic resource] by Ayoglu, Burcu Chaouch, Amina Lochmüller, Hanns Politano, Luisa Bertini, Enrico Spitali, Pietro Hiller, Monika Niks, Eric H Gualandi, Francesca Pontén, Fredrik Bushby, Kate Aartsma-Rus, Annemieke Schwartz, Elena Le Priol, Yannick Straub, Volker Uhlén, Mathias Cirak, Sebahattin 't Hoen, Peter A C Muntoni, Francesco Ferlini, Alessandra Schwenk, Jochen M Nilsson, Peter Al-Khalili Szigyarto, Cristina Producer: 20150209 In: EMBO molecular medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. [electronic resource] by Spitali, Pietro Zaharieva, Irina Bohringer, Stefan Hiller, Monika Chaouch, Amina Roos, Andreas Scotton, Chiara Claustres, Mireille Bello, Luca McDonald, Craig M Hoffman, Eric P Koeks, Zaida Eka Suchiman, H Cirak, Sebahattin Scoto, Mariacristina Reza, Mojgan 't Hoen, Peter A C Niks, Erik H Tuffery-Giraud, Sylvie Lochmüller, Hanns Ferlini, Alessandra Muntoni, Francesco Aartsma-Rus, Annemieke Producer: 20210527 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. [electronic resource] by van den Bergen, Janneke C Hiller, Monika Böhringer, Stefan Vijfhuizen, Linda Ginjaar, Hendrika B Chaouch, Amina Bushby, Kate Straub, Volker Scoto, Mariacristina Cirak, Sebahattin Humbertclaude, Véronique Claustres, Mireille Scotton, Chiara Passarelli, Chiara Lochmüller, Hanns Muntoni, Francesco Tuffery-Giraud, Sylvie Ferlini, Alessandra Aartsma-Rus, Annemieke M Verschuuren, Jan J G M 't Hoen, Peter Ac Spitali, Pietro Producer: 20151214 In: Journal of neurology, neurosurgery, and psychiatry vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. [electronic resource] by Chaouch, Amina Porcelli, Vito Cox, Daniel Edvardson, Shimon Scarcia, Pasquale De Grassi, Anna Pierri, Ciro L Cossins, Judith Laval, Steven H Griffin, Helen Müller, Juliane S Evangelista, Teresinha Töpf, Ana Abicht, Angela Huebner, Angela von der Hagen, Maja Bushby, Kate Straub, Volker Horvath, Rita Elpeleg, Orly Palace, Jacqueline Senderek, Jan Beeson, David Palmieri, Luigi Lochmüller, Hanns Publication details: Journal of neuromuscular diseases In: Journal of neuromuscular diseases vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. [electronic resource] by Nicole, Sophie Chaouch, Amina Torbergsen, Torberg Bauché, Stéphanie de Bruyckere, Elodie Fontenille, Marie-Joséphine Horn, Morten A van Ghelue, Marijke Løseth, Sissel Issop, Yasmin Cox, Daniel Müller, Juliane S Evangelista, Teresinha Stålberg, Erik Ioos, Christine Barois, Annie Brochier, Guy Sternberg, Damien Fournier, Emmanuel Hantaï, Daniel Abicht, Angela Dusl, Marina Laval, Steven H Griffin, Helen Eymard, Bruno Lochmüller, Hanns Producer: 20141106 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. [electronic resource] by Guergueltcheva, Velina Müller, Juliane S Dusl, Marina Senderek, Jan Oldfors, Anders Lindbergh, Christopher Maxwell, Susan Colomer, Jaume Mallebrera, Cecilia Jimenez Nascimento, Andres Vilchez, Juan J Muelas, Nuria Kirschner, Janbernd Nafissi, Shahriar Kariminejad, Ariana Nilipour, Yalda Bozorgmehr, Bita Najmabadi, Hossein Rodolico, Carmelo Sieb, Jörn P Schlotter, Beate Schoser, Benedikt Herrmann, Ralf Voit, Thomas Steinlein, Ortrud K Najafi, Abdolhamid Urtizberea, Andoni Soler, Doriette M Muntoni, Francesco Hanna, Michael G Chaouch, Amina Straub, Volker Bushby, Kate Palace, Jacqueline Beeson, David Abicht, Angela Lochmüller, Hanns Producer: 20161213 In: Journal of neurology vol. 259 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)