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TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

par Del Bo, R;Ghezzi, S;Corti, S;Pandolfo, Massimo ;Ranieri, M;Santoro, D;Ghione, I;Prelle, A;Orsetti, V;Mancuso, M;Sorarù, G;Briani, C;Angelini, C;Siciliano, G;Bresolin, Nereo;Comi, Giacomo Pietro
Référence European journal of neurology, 16, 6, page (727-732)
Publication Publié, 2009-06

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Titre:	TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
Auteur:	Del Bo, R; Ghezzi, S; Corti, S; Pandolfo, Massimo; Ranieri, M; Santoro, D; Ghione, I; Prelle, A; Orsetti, V; Mancuso, M; Sorarù, G; Briani, C; Angelini, C; Siciliano, G; Bresolin, Nereo; Comi, Giacomo Pietro
Informations sur la publication:	European journal of neurology, 16, 6, page (727-732)
Statut de publication:	Publié, 2009-06
Sujet CREF:	Sciences bio-médicales et agricoles
Mots-clés:	Amyotrophic lateral sclerosis
	Missense mutation
	Motor neurone dysfunction
	TARDBP gene
	TDP-43
MeSH keywords:	Aged
	Amyotrophic Lateral Sclerosis -- genetics
	Amyotrophic Lateral Sclerosis -- metabolism
	Amyotrophic Lateral Sclerosis -- physiopathology
	Base Sequence -- genetics
	Belgium
	Chromosome Disorders -- genetics
	Cross-Sectional Studies
	DNA Mutational Analysis
	DNA-Binding Proteins -- genetics
	Female
	Genes, Dominant -- genetics
	Genetic Predisposition to Disease -- genetics
	Genetic Testing
	Genotype
	Heterozygote
	Heterozygote Detection
	Humans
	Inheritance Patterns -- genetics
	Italy
	Male
	Middle Aged
	Mutation -- genetics
	Mutation, Missense -- genetics
	Pedigree
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
	FLWIN
Langue:	Anglais
Identificateurs:	urn:issn:1351-5101
	info:doi/10.1111/j.1468-1331.2009.02574.x
	info:pii/ENE2574
	info:scp/65449130022
	info:pmid/19236453