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17篇 您的检索式：作者名="Malicdan"

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		题名	作者	年代	出处	被引量
	1	Lysosomal myopathies:an excessive build-up in autophagosomes is too much to handle显示文摘	Malicdan MC Noguchi S Nonaka I	2008	Neuromuscul Disord2008，18，7：	1
	2	Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles显示文摘	Malicdan MCV Nonaka I	2008	Neurol India2008，56，3：	1
	3	A congenital neutrophil defect syndrome associated with mutations in VPS45 显示文摘	VILBOUX T LEV A MALICDAN M C	2013	N Engl J Med2013，369，1：	1
	4	Central core disease is due to RYR1 mutations in more than 90% of patients显示文摘	Ibarra MC Malicdan MC	2006	Brain2006，129，6：	1
	5	Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle显示文摘	May Christine Malicdan Satoru Noguchi Ikuya Nonaka Paul Saftig Ichizo Nishino	2008	Neuromuscular Disorders2008，，7：	1
	6	A congenital neutrophil defect syndrome associated with mutations in VPS45 显示文摘	VILBOUX T LEV A MALICDAN M C	2013	N Engl J Med2013，369，1：	1
	7	Central core disease is due to RYR1 mutations in more than 90% of patients 显示文摘	Wu S Ibarra MC Malicdan MC	2006	Brain2006，129，6：	1
	8	Central core disease is due to RYR1 mutations in more than 90% of patients显示文摘	Wu S IISarta MC Malicdan MC	2006	Brain2006，129，：	1
	9	Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles显示文摘	Malicdan MC Nonaka I	2008	Neurol India2008，56，：	1
	10	Molecular pathomechanism of distal myopathy with rimmed vacuoles显示文摘	NISHINO I MALICDAN M C MURAYAMA K	2005	Acta Myol2005，24，2：	1
	11	Central core disease is due to RYR1 mutations in more than 90% of patients显示文摘	Wu S Ibarra MC Malicdan MC	2006	Brain2006，129，6：	1
	12	A Cme knockout mouse expressing human GNE DI76V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy显示文摘	Malicdan MC Noguchi S Nonaka I	2007	Hum Mol Genet2007，16，22：	1
	13	Peracetylated Nacetylmannos-amine , a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid deficient myopathy显示文摘	Malicdan MC Noguchi S Tokutomi T	2012	J Bioi Chern2012，287，4：	1
	14	Prophylactic treatment with sialic acid metabolites pree, ludes the development of the myo- pathie phenotype in the DMRV-hlBM mouse model显示文摘	Malicdan MC Noguchi S Hayashi YK	2009	Nat Med2009，15，6：	1
	15	Autophagy in a moose mod- el of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy 显示文摘	Malicdan M C Noguchi S Nishino I	2007	Autophagy2007，3，4：	1
	16	Central core disease is due to RYR1 mutations in more than 90% of patients显示文摘	Wu S Ibarra MC Malicdan MC	2006	Brain2006，129，6：	1
	17	Central core disease is due to RYR1 mutations in more than 90% of patients 显示文摘	Malicdan MC Murayama K Ichihara Y	2006	Brain2006，129，6：	1

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