Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mercè Artigas-López"'
Autor:
Virginia Garcia-Solaesa, Pablo Serrano-Lorenzo, Maria Antonia Ramos-Arroyo, Alberto Blázquez, Inmaculada Pagola-Lorz, Mercè Artigas-López, Joaquín Arenas, Miguel A. Martín, Ivonne Jericó-Pascual
Publikováno v:
Genes, Vol 10, Iss 10, p 785 (2019)
Phosphoglycerate kinase (PGK)1 deficiency is an X-linked inherited disease associated with different clinical presentations, sometimes as myopathic affectation without hemolytic anemia. We present a 40-year-old male with a mild psychomotor delay and
Externí odkaz:
https://doaj.org/article/892286d7436047c5a77fde46a8af07d0
Autor:
Nadine Pelzer, Claudia M Weller, Joost Haan, María A Ramos Arroyo, Boukje de Vries, Gisela M. Terwindt, Michel D. Ferrari, Mercè Artigas López, Stephany C. Koelewijn, Arn M. J. M. van den Maagdenberg, AH Stam, Oriol De Fabregues, Julio Pascual
Publikováno v:
Cephalalgia. 34:1062-1069
Background Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura, characterized by motor auras. The majority of FHM families have mutations in the CACNA1A and ATP1A2 genes; less than 5% of FHM families are explained by
Autor:
Mercè Artigas-López, María Moreno-Igoa, Amaya Bengoa-Alonso, Maria A. Ramos-Arroyo, Blanca Hernández-Charro, Claudio Cattalli
Publikováno v:
American journal of medical genetics. Part A. 170(6)
The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3 Mb region that extends from LCR22-A until LCR22-D, while the recurrent recombination between any of the LCR22-D to H causes the 22q11.2 distal deletion syndrome. Here, we