Macaya A - Search Results

1

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: macaya a. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free 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

Disorders of movement in Leigh syndrome.

Macaya A, Munell F, Burke RE, De Vivo DC. Macaya A, et al. Neuropediatrics. 1993 Apr;24(2):60-7. doi: 10.1055/s-2008-1071515. Neuropediatrics. 1993. PMID: 8392142

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

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.

Cuenca-León E, Corominas R, Montfort M, Artigas J, Roig M, Bayés M, Cormand B, Macaya A. Cuenca-León E, et al. Among authors: macaya a. Neurogenetics. 2009 Jul;10(3):191-8. doi: 10.1007/s10048-008-0169-6. Epub 2009 Jan 20. Neurogenetics. 2009. PMID: 19153782

10

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

Urbizu A, Cuenca-León E, Raspall-Chaure M, Gratacòs M, Conill J, Redecillas S, Roig-Quilis M, Macaya A. Urbizu A, et al. Among authors: macaya a. J Neurol Sci. 2010 Aug 15;295(1-2):110-3. doi: 10.1016/j.jns.2010.05.017. Epub 2010 Jun 8. J Neurol Sci. 2010. PMID: 20621801

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