Browsing publications by Dr Amina Chaouch

Newcastle AuthorsTitleYearFull text
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
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 Amina Chaouch
Professor Hanns Lochmuller
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation2013
Dr Amina Chaouch
Dr Nuria Muelas Gomez
Professor Hanns Lochmuller
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome2012
Dr Amina Chaouch
Ana Nascimento
Dr Nuria Muelas Gomez
Professor Hanns Lochmuller
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome2012
Dr Nuria Muelas Gomez
Professor Michael Hanna
Dr Amina Chaouch
Professor Volker Straub
Professor Katherine Bushby
et al.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations2012
Dr Amina Chaouch
Dr Juliane Mueller
Professor Hanns Lochmuller
Congenital Myasthenic Syndromes: Achievements and Limitations of Phenotype-Guided Gene-After-Gene Sequencing in Diagnostic Practice: A Study of 680 Patients2012
12