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108篇 您的检索式：期刊名="Neuromuscular Disorders"

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	题名	作者	年代	出处	被引量
1	Rhabdomyolysis: Review of the literature显示文摘	R. Zutt A.J. van der Kooi G.E. Linthorst R.J.A. Wanders M. de Visser	2014	Neuromuscular Disorders2014，，：	2
2	Screening the entire ryanodine receptor I gene in 28 Japanese central core disease patients and 12 multiminicore disease patients: almost all central core disease patients are due to ryanodine receptor 1 gene mutation 显示文摘	Wu S Ibarra MCA Murayama K	2005	Neuromuscular Disord2005，15，7：	1
3	Calpain 3,the ' gatekeeper' of proper sarcomere assembly,turnover and maintenance显示文摘	BECKMANN J S SPENCER M	2008	Neuromuscular Disorders2008，18，：	1
4	Late onset muscular dystrophy with cerebral white matter changes to partial merosin deficiency显示文摘	Tan E Topaloglu H Sewry C	1997	Neuromuscular Disorders1997，7，2：	1
5	Trankforming growth factor - beta enhances connective tissue growth factor expression in L6 rat skeletal myotubes 显示文摘	Maeda N Kanda F Oknda S	2005	Neuromuscular Disorders2005，15，11：	1
6	Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes显示文摘	Bouju S Pietu G Le Cunff M	1999	Neuromuscular Disorders1999，9，1：	1
7	The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre 显示文摘	Tuffery GS Saquet C Chambert S	2004	Neuromuscular Disorders2004，14，：	1
8	A systematic review of diagnostic studies in myasthenia gravis显示文摘	Michael Benatar	2006	Neuromuscular Disorders2006，，7：	1
9	DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene显示文摘	Dolinsky LC de Moura-Neto RS Falcao-Conceicao DN	2002	Neuromuscular Disorders2002，12，：	1
10	The genes encoding for D4Z4 binding proteins HMGB2,YY1,NCL,and MYOD1 are excluded as candidate genes for FSHD1B显示文摘	Bastress KL Stajich JM Speer MC	2005	Neuromuscular Disorders2005，15，4：	1
11	Right ventricular arrhythmic cardiomyopathy with an autosomal dominant R355P DES gene mutation 显示文摘	Ochsner F Lobrinus J Jeanrenaud X	2007	Neuromuscular Disorders2007，17，9：	1
12	Nov- el splice site mutation in the caveolin-3 gene lead- ing to autosomal recessive limb girdle muscular dys- trophy显示文摘	Mueller J S Piko H Schoser B G H	2006	Neuromuscular Disorders2006，16，7：	1
13	Nov- el homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular mus- cle paresis显示文摘	Ueyama H Horinouchi H Obayashi K	2007	Neuromuscular Disorders2007，17，7：	1
14	Variation of serum creatine kinase (CK) levels and prevalence of persistent hyperCKemia in a Norwegian normal population. The Troms? Study显示文摘		2011	Neuromuscular Disorders2011，，7：	1
15	Clinical impact of persistent hyperCKemia in a Norwegian general population: A case-control study显示文摘		2012	Neuromuscular Disorders2012，，：	1
16	Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis显示文摘	Fouad G Dalakas M Servidei S	1997	Neuromuscular Disorders1997，7，1：	1
17	Caveolinopathy:new mutations and additional symptoms显示文摘	Aboumousa A Hoogendijk J Charlton R	2008	Neuromuscular Disorders2008，18，7：	1
18	LAMA2 mRNA processing alterations generate a complete de?cieney of laminin-a2 protein and a severe congenital muscular dystrophy显示文摘	Siala O Louhichi N Triki C	2008	Neuromuscular Disorders2008，18，：	1
19	Tracheoinnominate fistula in aDuchenne muscular dystrophy patient:successful management withan endovascular stent显示文摘	Vianello A Ragazzi R Mirri L	2005	Neuromuscular Disord2005，15，8：	1
20	Molecular genetics of facioscapulohumeral muscular Dystrophy显示文摘	Fisher J Upadhyaya M	1997	Neuromuscular Disorders1997，7，1：	1

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