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16篇 您的检索式：作者名="Cossee M"

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		题名	作者	年代	出处	被引量
	1	Enrichment of cholesterol in microdissected Alzheimer's disease senile plaques as assessed by mass spectrometry显示文摘	Panchal M Loeper J Cossee JC	2009	J Lipid Res2009，51，3：	1
	2	ARX Polyalanine expan- sions are highly implicated in familial eases of mental retarda- tion with infantile epilepsy and/or hand dystonia 显示文摘	Cossee M Faivre L Philippe C	2011	Am J Med Genet A2011，155，1：	1
	3	Miyoshi-like distal myopathy with mutations in anoctamin 5 gene 显示文摘	Bouquet F Cossee M Behin A	2012	Rev Neurol-France2012，168，2：	1
	4	Kennedy' s disease initially manifesting as an endocrine disorder 显示文摘	Battaglia F Le Galudec V Cossee M	2003	J Clin Neuromuscul Dis2003，4，：	1
	5	Mouse models for Friedreich ataxla exhibit cardiomyopathy, sensory nerve defect and Fe - S enzyme deficiency followed by intramitochondrial iron deposits显示文摘	Puccio H Simon D Cossee M	2001	Nat C enet2001，27，2：	1
	6	Mouse models of Frledreich ataxia exhibit cardiomyopathy,sensory nerve defect and Fe-S enayme deficiency followed by intramitochondrial iron deposits 显示文摘	Puccio H Simon D Cossee M	2001	Nat Genet2001，27，：	1
	7	ARX polyalanine expan- sions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia显示文摘	Cossee M Faivre L Philippe C	2011	Am J Med Genet A2011，155，1：	1
	8	Mutations in EDAR account for one -quarter of non-EDl-related hypohiddrotic ectodermal dysplasia显示文摘	Chassaing N Bourthoumieu S Cossee M	2006	Hum Mutat2006，27，3：	1
	9	Clinical,molecular,and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1:a French and Belgian collaborative study显示文摘	Thauvin R C Cossee M Cormier D V	2006	J Mad Genet2006，43，：	1
	10	Mutations in EDAR account for one - quarter of non - EDI - related hypohidrotic ectodermal dysplasia 显示文摘	Chassaing N Bourthoumieu S Cossee M	2006	Hum Murat2006，27，3：	1
	11	Friedreich′s ataxia:point mutations and clinical presentation of compound heterozygotes显示文摘	Cossee M Durr A Schmitt M		0，，：	1
	12	Mouse models for Friedreich ataxia exhibit cardiomyopathy,sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits显示文摘	Puccio H Simon D Cossee M		0，，：	1
	13	Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation显示文摘	Cossee M Puccio H Gansmuller A		0，，：	1
	14	, Pitfalls in clinical diagnosis of female carriers of X -linked hypohidrotic ectodermal dysplasia 显示文摘	Vincent MC Cossee M Vabres P Stewart F Bonneau D Calvas P	2002	Arch Der- matol2002，138，9：	1
	15	Mouse models of friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits显示文摘	Puccio H Simon D Cossee M	2001	Nat Genet2001，27，2：	1
	16	Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia显示文摘	Chassaing N Bourthoumieu S Cossee M	2006	Hum Mutat2006，27，3：	1

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