SFX by Ex Libris Inc.

Title:	MUSK, a new target for mutations causing congenital myasthenic syndrome
Source:	Human Molecular Genetics [0964-6906] Chevessier, Frédéric yr:2004

Basic

Sorry, no full text available...

Please use the document delivery service (see below)

Holding information

Holdings in library search engine ALBERT

Document delivery

Request document via Library/Bibliothek

Users interested in this article also expressed an interest in the following:
description	1.	Cossins, J. "Congenital myasthenic syndromes due to mutations in ALG2 and ALG14." Brain 136.Pt 3 (2013): 944-956.
description	2.	Mihaylova, V. "Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes." Neurology 73.22 (2009): 1926-1928.
description	3.	Houlden, H. "Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes." Brain 136.Pt 3 (2013): 692-695.
description	4.	Engel, Andrew G. "Current status of the congenital myasthenic syndromes." Neuromuscular disorders 22.2 (2011): 99-111.
description	5.	Beeson, D. "Synaptic dysfunction in congenital myasthenic syndromes." Annals of the New York Academy of Sciences 1275.1 (2012): 63-69.
description	6.	Finlayson, S. "Congenital myasthenic syndromes: an update." Practical neurology 13.2 (2013): 80-91.
description	7.	Engel, Andrew G. "New horizons for congenital myasthenic syndromes." Annals of the New York Academy of Sciences 12751.1 (2012): 54-62.
description	8.	Shen, X. "Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability." Neurology 83.24 (2014): 2247-55.
description	9.	Scott, K. "Congenital disorders of glycosylation: new defects and still counting." Journal of inherited metabolic disease 37.4 (2014): 609-17.
description	10.	Maselli, Ricardo A. "Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction." Human Molecular Genetics 19.12 (2010): 2370-2379.
description	11.	Engel, Andrew G G. "Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction." Annals of the New York Academy of Sciences 1132.1 (2003): 138-60.
description	12.	Engel, Andrew G G. "Congenital myasthenic syndromes: A diverse array of molecular targets." Journal of neurocytology 32.5-8 (2003): 1017-37.
description	13.	Abicht, A. "Congenital Myasthenic Syndromes : Achievements and Limitations of Phenotype-Guided Gene-After-Gene Sequencing in Diagnostic Practice: A Study of 680 Patients." Human mutation 33.10 (2012): 1474-1484.
description	14.	Engel, Andrew G. "Congenital Myasthenic Syndromes in 2012." Current neurology and neuroscience reports 12.1 (2011): 92-101.
description	15.	Engel, Andrew G. "Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment." Lancet neurology 14.4 (2015): 420-434.
description	16.	Gallenmuller, C. "Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK." Neuromuscular disorders 24.1 (2014): 31-35.
description	17.	Freeze, H. "Solving glycosylation disorders: fundamental approaches reveal complicated pathways." American journal of human genetics 94.2 (2014): 161-75.
description	18.	Freeze, Hudson H. "Understanding human glycosylation disorders: Biochemistry leads the charge." Journal of biological chemistry 288.10 (2013): 6936-6945.
description	19.	Walogorsky, M. "Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery." Proceedings of the National Academy of Sciences of the United States of America 109.43 (2012): 17711-17716.
description	20.	Lorenzoni, Paulo J. "Congenital Myasthenic Syndrome: A Brief Review." Pediatric neurology 46.3 (2012): 141-148.