Publications by Dr Amina Chaouch - ePrints

Browsing publications by Dr Amina Chaouch.

Newcastle Authors	Title	Year
Dr Amina Chaouch Emerita 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 variants	2015
Dr Amina Chaouch Professor Hanns Lochmuller Emerita Professor Katherine Bushby Professor Volker Straub	Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies	2014
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 atrophy	2014
Dr Amina Chaouch Professor Hanns Lochmuller	Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the alpha-epsilon subunit interface	2014
Dr Amina Chaouch Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller	Fibronectin is a serum biomarker for Duchenne muscular dystrophy	2014
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 Transmission	2014
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 Britain	2014
Dr Amina Chaouch Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller	Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome	2013
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 test	2013
Dr Paulo Lorenzoni Dr Amina Chaouch Professor Hanns Lochmuller	Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation	2013
Dr Amina Chaouch Dr Nuria Muelas Gomez Professor Hanns Lochmuller	A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome	2012
Dr Amina Chaouch Ana Nascimento Dr Nuria Muelas Gomez Professor Hanns Lochmuller	A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome	2012
Dr Nuria Muelas Gomez Professor Michael Hanna Dr Amina Chaouch Professor Volker Straub Emerita Professor Katherine Bushby et al.	Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations	2012
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 Patients	2012
Dr Amina Chaouch Dr Anna Sarkozy Professor Hanns Lochmuller Emerita Professor Katherine Bushby	FSHD extended deletion analysis using the D4Z4 1kb probe - a case study	2012
Dr Mojgan Reza Daniel Cox Dr Steven Laval Dr Amina Chaouch Dr Rita Barresi et al.	MRC NMD Centre Biobank: An overview	2012
Dr Amina Chaouch Professor Hanns Lochmuller	Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing	2012
Professor Volker Straub Dr Amina Chaouch Professor Hanns Lochmuller	BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project	2011
Dr Amina Chaouch Dr Juliane Mueller Professor Hanns Lochmuller	Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.	2011
Professor Vishna Devi V Nadarajah Dr Amina Chaouch Professor Hanns Lochmuller	Mass spectrometry based clinical proteomics for biomarker discovery in Duchenne muscular dystrophy	2011
Professor Vishna Devi V Nadarajah Dr Amina Chaouch Dr Penelope Garrood Professor Volker Straub Professor Hanns Lochmuller et al.	Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)	2011
Professor Vishna Devi V Nadarajah Dr Amina Chaouch Dr Penelope Garrood Professor Volker Straub Professor Hanns Lochmuller et al.	Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progression	2011