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	21.	Genetic mapping of a locus (mass1) causing audiogenic seizures in mice. [electronic resource] by Skradski, S L White, H S Ptácek, L J Producer: 19980806 In: Genomics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. [electronic resource] by Meola, G Sansone, V Radice, S Skradski, S Ptacek, L Producer: 19970114 In: Neuromuscular disorders : NMD vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. [electronic resource] by Zhang, J Sanguinetti, M C Kwiecinski, H Ptácek, L J Producer: 20000229 In: The Journal of biological chemistry vol. 275 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	THE PRESENCE OF LACTULOSE IN THE URINE OF INFANTS WITH LACTOSURIA. [electronic resource] by GERRITSEN, T LEMLI, L PTACEK, L J WAISMAN, H A Producer: 19961201 In: Pediatrics vol. 32 Availability: No items available. Save to lists Add to cart (remove)
	25.	Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. [electronic resource] by Zhang, J Bendahhou, S Sanguinetti, M C Ptácek, L J Producer: 20000329 In: Neurology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	A new locus for hemiplegic migraine maps to chromosome 1q31. [electronic resource] by Gardner, K Barmada, M M Ptacek, L J Hoffman, E P Producer: 19971208 In: Neurology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. [electronic resource] by Fouad, G T Servidei, S Durcan, S Bertini, E Ptácek, L J Producer: 19960801 In: American journal of human genetics vol. 59 Availability: No items available. Save to lists Add to cart (remove)
	28.	miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin. [electronic resource] by Shin, D Howng, S Y B Ptáček, L J Fu, Y-H Producer: 20121016 In: Neuroscience vol. 213 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Evidence of genetic heterogeneity among the nondystrophic myotonias. [electronic resource] by Ptacek, L J Ziter, F A Roberts, J W Leppert, M F Producer: 19920609 In: Neurology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Linkage of atypical myotonia congenita to a sodium channel locus. [electronic resource] by Ptacek, L J Tawil, R Griggs, R C Storvick, D Leppert, M Producer: 19920312 In: Neurology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. [electronic resource] by Einum, D D Townsend, J J Ptácek, L J Fu, Y H Producer: 20010920 In: Neurogenetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Immunological studies on an aberrant form of ataxia telangiectasia. [electronic resource] by Hansen, R L Marx, J J Ptacek, L J Roberts, R C Producer: 19770622 In: American journal of diseases of children (1960) vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Trochlear nerve palsy following minor head trauma. A sign of structural disorder. [electronic resource] by Jacobson, D M Warner, J J Choucair, A K Ptacek, L J Producer: 19890522 In: Journal of clinical neuro-ophthalmology vol. 8 Availability: No items available. Save to lists Add to cart (remove)
	34.	Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. [electronic resource] by Ptacek, L J Tyler, F Trimmer, J S Agnew, W S Leppert, M Producer: 19910906 In: American journal of human genetics vol. 49 Availability: No items available. Save to lists Add to cart (remove)
	35.	Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. [electronic resource] by Bendahhou, S Cummins, T R Kwiecinski, H Waxman, S G Ptácek, L J Producer: 19991020 In: The Journal of physiology vol. 518 ( Pt 2) Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. [electronic resource] by Bendahhou, S Cummins, T R Tawil, R Waxman, S G Ptácek, L J Producer: 19990628 In: The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	37.	Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. [electronic resource] by Bendahhou, S Cummins, T R Kula, R W Fu, Y-H Ptácek, L J Producer: 20020507 In: Neurology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. [electronic resource] by Bendahhou, S Cummins, T R Griggs, R C Fu, Y H Ptácek, L J Producer: 20011004 In: Annals of neurology vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	THE CORNELIA DE LANGE SYNDROME. [electronic resource] by PTACEK, L J OPITZ, J M SMITH, D W GERRITSEN, T WAISMAN, H A Producer: 19961201 In: The Journal of pediatrics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. [electronic resource] by Einum, D D Zhang, J Arneson, P J Menon, A G Ptacek, L J Producer: 20000413 In: Neurogenetics vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 89 results.