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8 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs	Spadaro, Maria		2005	6	3	p. 169	article
2	Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses	Mole, Sara E.		2005	6	3	p. 107-126	article
3	Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures	Bennett, C. L.		2005	6	3	p. 143-149	article
4	Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis	Dobson-Stone, Carol		2005	6	3	p. 151-158	article
5	Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia	Svenson, Ingrid K.		2005	6	3	p. 135-141	article
6	The Gem interacting protein (GMIP) gene is associated with major depressive disorder	Tadokoro, Kazuyuki		2005	6	3	p. 127-133	article
7	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family	Chung, K. W.		2005	6	3	p. 159-163	article
8	X-linked creatine transporter deficiency	Schiaffino, Maria C.		2005	6	3	p. 165-168	article

8 results found

Koninklijke Bibliotheek - National Library of the Netherlands