Browsing publications by Dr Amina Chaouch

Newcastle AuthorsTitleYearFull text
Dr Amina Chaouch
Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Professor Annemieke Aartsma-Rus
et al.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants2015
Dr Amina Chaouch
Professor Hanns Lochmuller
Professor Katherine Bushby
Professor Volker Straub
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies2014
Dr Amina Chaouch
Yasmin Issop
Daniel Cox
Dr Juliane Mueller
Dr Teresinha Evangelista
et al.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy2014
Dr Amina Chaouch
Professor Hanns Lochmuller
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the alpha-epsilon subunit interface2014
Dr Amina Chaouch
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Fibronectin is a serum biomarker for Duchenne muscular dystrophy2014
Dr Amina Chaouch
Daniel Cox
Dr Steven Laval
Dr Helen Griffin
Dr Teresinha Evangelista
et al.
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission2014
Dr Amina Chaouch
Dr Fiona Norwood
Professor Rita Horvath
Professor Patrick Chinnery
Dr Tuomo Polvikoski
et al.
Two recurrent mutations are associated with GNE myopathy in the North of Britain2014
Dr Amina Chaouch
Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome2013
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
Dr Paulo Lorenzoni
Dr Amina Chaouch
Professor Hanns Lochmuller
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation2013
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