Juan Angel Martinez Esteban

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About 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by death of motor neurons in the brain and spinal cord, exhibit autosomal dominant inheritance. A subgroup of these familial cases are caused by mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1). We report here three additional mutations occurring in(More)
Autosomal dominant inheritance is exhibited by about 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by the death of motor neurons in the brain and spinal cord. A subgroup of these familial cases are linked to mutations in the gene which codes for Cu/Zn superoxide dismutase (SOD1). We report three additional mutations(More)
Myotonia congenita is an inherited muscle disorder characterized by muscle stiffness and hypertrophy. Its clinical phenotype depends, in part, on whether it is inherited as a dominant or recessive trait, respectively designated Thomsen's disease or Becker's generalized myotonia (BGM). In either case, it is associated with abnormalities in the muscle(More)
One of the major drawbacks of high-ratio step-up transformers is the high value of their secondary-side capacitor. This value is reflected at the primary side, giving rise to a nondesirable one. There are some converters which include this capacitor in the topology and can cope with it, and even more, they need it. In particular, in high-voltage(More)
In three families with hypokalemic periodic paralysis (HOPP) we have confirmed the presence of a missense mutation (arginine 528 to histidine) within the gene CACNL1A3 encoding the alpha 1 subunit of the L-type, voltage-sensitive calcium channel. Additionally, we have identified two novel polymorphisms within this gene located in close proximity to the(More)
Acknowledgements I would like to thank all the persons who helped me during the last past 6 months of work. To all the people who gave me their support and patience. Particularly I want to thank Sebastian Wandelt, who helped me through all the development of this thesis. Prof. Dr. Ralf Moeller for all the passionate lectures that put the seed of Description(More)
A new electronic tonometer is presented in this paper. This is an electromechanical device that has been designed to establish, by means of a fully automatic process, an approximate value of the intraocular pressure (IOP) without the need to be handled by an ophthalmologist. It can be applied on the closed eyelid with no danger for the patient in an easy(More)
This is an unofficial translation of the Central Bank of Chile' s four-monthly Informe de Política Monetaria. In case of any discrepancy or difference in interpretation, the Spanish original prevails. Both versions are available at www.bcentral.cl This publication is protected under Chilean Law Nº 17336 on intellectual property. Hence, its contents may not(More)
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