Macaya A - Search Results

1

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: macaya a. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.

2

Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: a benign form of infantile bilateral striatal necrosis.

Roig M, Macaya A, Munell F, Capdevila A. Roig M, et al. Among authors: macaya a. J Pediatr. 1990 Oct;117(4):578-81. doi: 10.1016/s0022-3476(05)80692-4. J Pediatr. 1990. PMID: 2213381 No abstract available.

3

Apoptosis in substantia nigra following developmental striatal excitotoxic injury.

Macaya A, Munell F, Gubits RM, Burke RE. Macaya A, et al. Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8117-21. doi: 10.1073/pnas.91.17.8117. Proc Natl Acad Sci U S A. 1994. PMID: 7914702 Free PMC article.

4

[Molecular factors of cerebral hypoxia-ischemia].

Macaya A, Munell F, Reventós J, Ferrer I. Macaya A, et al. Rev Neurol. 1996 Jul;24(131):855-64. Rev Neurol. 1996. PMID: 8681202 Review. Spanish.

5

Identification of necrotic cell death by the TUNEL assay in the hypoxic-ischemic neonatal rat brain.

de Torres C, Munell F, Ferrer I, Reventós J, Macaya A. de Torres C, et al. Among authors: macaya a. Neurosci Lett. 1997 Jul 11;230(1):1-4. doi: 10.1016/s0304-3940(97)00445-x. Neurosci Lett. 1997. PMID: 9259449

6

Cell death and associated c-jun induction in perinatal hypoxia-ischemia. Effect of the neuroprotective drug dexamethasone.

Macaya A, Munell F, Ferrer I, de Torres C, Reventós J. Macaya A, et al. Brain Res Mol Brain Res. 1998 May;56(1-2):29-37. doi: 10.1016/s0169-328x(98)00024-2. Brain Res Mol Brain Res. 1998. PMID: 9602039

7

[The pattern of DNA fragmentation in pediatric neuromuscular disorders].

de Torres C, Munell F, Roig M, Macaya A. de Torres C, et al. Among authors: macaya a. Rev Neurol. 2000 May 16-31;30(10):901-6. Rev Neurol. 2000. PMID: 10919182 Spanish.

8

Naturally occurring cell death during postnatal development of rat skeletal muscle.

de Torres C, Munell F, Roig M, Reventós J, Macaya A. de Torres C, et al. Among authors: macaya a. Muscle Nerve. 2002 Dec;26(6):777-83. doi: 10.1002/mus.10268. Muscle Nerve. 2002. PMID: 12451601

9

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.

Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM. Bahamonde MI, et al. Among authors: macaya a. PLoS One. 2015 Dec 30;10(12):e0146035. doi: 10.1371/journal.pone.0146035. eCollection 2015. PLoS One. 2015. PMID: 26716990 Free PMC article.

10

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

Valenzuela I, Boronat S, Martínez-Sáez E, Clemente M, Sánchez-Montañez Á, Munell F, Carrascosa A, Macaya A. Valenzuela I, et al. Among authors: macaya a. Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12. Eur J Med Genet. 2017. PMID: 28711742 Review.

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