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Browsing publications by Dr Amina Chaouch.

Newcastle AuthorsTitleYearFull text
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 variants2015
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 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
Emerita 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
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
Emerita 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
Dr Amina Chaouch
Dr Anna Sarkozy
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
FSHD extended deletion analysis using the D4Z4 1kb probe - a case study2012
Dr Mojgan Reza
Daniel Cox
Dr Steven Laval
Dr Amina Chaouch
Dr Rita Barresi
et al.
MRC NMD Centre Biobank: An overview2012
Dr Amina Chaouch
Professor Hanns Lochmuller
Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing2012
Professor Volker Straub
Dr Amina Chaouch
Professor Hanns Lochmuller
BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project2011
Dr Amina Chaouch
Dr Juliane Mueller
Professor Hanns Lochmuller
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.2011
Dr Amina Chaouch
Professor Hanns Lochmuller
Mass spectrometry based clinical proteomics for biomarker discovery in Duchenne muscular dystrophy2011
Dr Amina Chaouch
Dr Penelope Garrood
Professor Volker Straub
Professor Hanns Lochmuller
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)2011
Dr Amina Chaouch
Dr Penelope Garrood
Professor Volker Straub
Professor Hanns Lochmuller
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progression2011