Sophie Nicole

Author PubWeight™ 13.72^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.	Nat Genet	2012	2.34
2	Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.	Hum Mol Genet	2002	2.13
3	Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.	Am J Hum Genet	2004	1.45
4	The molecular bases of spinal muscular atrophy.	Curr Opin Genet Dev	2002	1.38
5	The multiple faces of the ATP1A3-related dystonic movement disorder.	Mov Disord	2013	0.91
6	Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.	Hum Mol Genet	2008	0.89
7	Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.	Hum Mutat	2006	0.88
8	Congenital myasthenic syndromes: an update.	Curr Opin Neurol	2013	0.84
9	A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.	Am J Pathol	2012	0.82
10	Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.	JIMD Rep	2014	0.81
11	Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.	Neuromuscul Disord	2013	0.80
12	Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.	Muscle Nerve	2009	0.79
13	Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction.	Muscle Nerve	2012	0.75
14	[Congenital myasthenic syndromes; French experience].	Bull Acad Natl Med	2014	0.75