Zobrazeno 1 - 10
of 91
pro vyhledávání: '"A Puche-Mira"'
Autor:
Alberto Puche-Mira, Encarna Guillén-Navarro, Carme Fuster, Isabel López-Expósito, Mònica Santos, Juan Antonio Bafalliu
Publikováno v:
ResearcherID
Intrachromosomal triplications are rare and can be mistaken for duplications. The majority of triplications reported are de novo, mostly involving chromosome 15q, and have a middle inverted repeat. We report on the clinical, cytogenetic, and molecula
Autor:
Elena, Martínez-Cayuelas, Eduardo, Martínez-Salcedo, Helena, Alarcón-Martínez, Alberto, Puche-Mira, Rosario, Domingo-Jiménez, Pedro, de Mingo-Casado, Cristina, Serrano-García
Publikováno v:
Revista de neurologia. 60(7)
Hirayama disease is a rare children's muscular atrophy that affects young Asian males, with muscular atrophy usually in one of the upper limbs that progresses slowly and later stabilises. It is diagnosed by means of electromyographic/electroneurograp
Autor:
Samuel F. Berkovic, Michael J. Berg, Raffaella Cusmai, Renzo Guerrini, Christopher A. Walsh, Ruben Kuzniecky, William B. Dobyns, S. Ricci, Susan E. Hong, Gregory L. Holmes, M. Elizabeth Ross, Pamela J. Reitnauer, Robert Leroy, Kristina M. Allen, Jeremy W. Fox, Renato Borgatti, James W. Wheless, Sharon R. Minnerath, Ingrid E. Scheffer, Cynthia M. Rooney, Eva Andermann, Alberto Puche Mira, Thomas O. Crawford, Edward C. Cooper, Joseph G. Gleeson, Robert F. Luo
Publikováno v:
Annals of Neurology. 45:146-153
Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterot
Autor:
M. Ugarte Pérez, A. Palacios Cuesta, J. Sánchez del Pozo, M. T. García Silva, A. Nogales Espert, A. Puche Mira
Publikováno v:
Anales de Pediatría, Vol 69, Iss 2, Pp 187-189 (2008)
Autor:
William B. Dobyns, Khalid Sossey-Alaoui, Annio Posar, David K. Manchester, Renzo Guerrini, Eva Andermann, Andrew J. Hartung, A. Puche-Mira, Anand Srivastava
Publikováno v:
Human Molecular Genetics. 7:1327-1332
Subcortical band heterotopia (SBH) and classical lissencephaly (LIS) result from deficient neuronal migration which causes mental retardation and epilepsy. A single LIS/SBH locus on Xq22.3-q24 was mapped by linkage analysis and physical mapping of th
Autor:
Alberto Puche Mira, Helena Alarcón Martínez, Eduardo Martinez Salcedo, Rosario Domingo Jiménez, Salvador Ibáñez Micó, Carlos Casas Fernández
Publikováno v:
JIMD Reports ISBN: 9783642257513
Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91a88142c27a616aca8628605a5652a
https://doi.org/10.1007/8904_2011_74
https://doi.org/10.1007/8904_2011_74
Autor:
Rosario Domingo-Jiménez, Martínez-Salcedo E, Martínez-Cayuelas E, Serrano-García C, A Puche-Mira, Alarcón-Martínez H, de Mingo-Casado P
Publikováno v:
Revista de Neurología. 60:309
Introduccion. La enfermedad de Hirayama es una rara atrofia muscular juvenil que afecta a varones jovenes de origen asiatico, con atrofia muscular habitualmente de una de las extremidades superiores de progresion lenta con estabilizacion posterior. S
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Autor:
A, Puche-Mira, R, Domingo-Jiménez
Publikováno v:
Revista de neurologia. 43
Advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have aroused renewed interest in these diseases in recent years. The vast degree of complexity involved in this pathology requires a great amount of effort in its diagnosis
Autor:
H, Alarcón-Martínez, C, Casas-Fernández, N, Escudero-Rodríguez, E, Cao-Avellaneda, R, Domingo-Jiménez, A, Puche-Mira, T, Rodríguez-Costa
Publikováno v:
Revista de neurologia. 42(2)
Topiramate (TPM) is a new antiepileptic drug whose multiple mechanisms of action justify both its broad therapeutic spectrum and its increasingly widespread use in childhood epilepsy. TPM acts as a carbonic anhydrase inhibitor and, although this does