Rebollo M - Search Results

1

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: rebollo m. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639

2

The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD. Martorell L, et al. Among authors: rebollo m. Clin Genet. 2022 May;101(5-6):575-576. doi: 10.1111/cge.14124. Epub 2022 Feb 22. Clin Genet. 2022. PMID: 35191016 No abstract available.

3

Early identification of brain injury in infants with hypoxic ischemic encephalopathy at high risk for severe impairments: accuracy of MRI performed in the first days of life.

Agut T, León M, Rebollo M, Muchart J, Arca G, Garcia-Alix A. Agut T, et al. Among authors: rebollo m. BMC Pediatr. 2014 Jul 8;14:177. doi: 10.1186/1471-2431-14-177. BMC Pediatr. 2014. PMID: 25005267 Free PMC article.

4

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Álvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, Pérez-Dueñas B. Serrano M, et al. Among authors: rebollo m. Mov Disord. 2012 Sep 1;27(10):1295-8. doi: 10.1002/mds.25008. Epub 2012 Jul 6. Mov Disord. 2012. PMID: 22777947

5

[Carbamazepine as treatment for the symptoms of myoclonias in subacute sclerosing panencephalitis].

Ulate-Campos A, Angel J, Petanàs-Argemí J, Natera-De Benito D, Ramos F, Sans-Capdevila Ó, Navarro S, Rebollo M, Muchart J, Fumadó V, González-Álvarez V. Ulate-Campos A, et al. Among authors: rebollo m. Rev Neurol. 2015 Feb 1;60(3):142-3. Rev Neurol. 2015. PMID: 25624090 Spanish. No abstract available.

6

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

Pérez-Dueñas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R. Pérez-Dueñas B, et al. Among authors: rebollo m. Pediatrics. 2013 May;131(5):e1670-5. doi: 10.1542/peds.2012-2988. Epub 2013 Apr 15. Pediatrics. 2013. PMID: 23589815

7

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: rebollo m. Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92. Orphanet J Rare Dis. 2014. PMID: 24957181 Free PMC article.

8

Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant.

Ortigoza-Escobar JD, Fernández de Sevilla M, Monfort L, Antón J, Iglesias E, Rebollo M, Del-Prado-Sánchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou C, Catalá A. Ortigoza-Escobar JD, et al. Among authors: rebollo m. J Neuroimmunol. 2022 Aug 15;369:577917. doi: 10.1016/j.jneuroim.2022.577917. Epub 2022 Jun 12. J Neuroimmunol. 2022. PMID: 35717738

9

[Developmental amnesia as a focal cognitive sequela of a neonatal pathology].

Sans A, Colomé R, López-Sala A, Boix C, Muchart J, Rebollo M, Guitet M, Callejón-Póo L, Campistol J. Sans A, et al. Among authors: rebollo m. Rev Neurol. 2011 Mar 1;52 Suppl 1:S29-38. Rev Neurol. 2011. PMID: 21365600 Spanish.

10

Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity.

François C, Ripollés P, Bosch L, Garcia-Alix A, Muchart J, Sierpowska J, Fons C, Solé J, Rebollo M, Gaitán H, Rodriguez-Fornells A. François C, et al. Among authors: rebollo m. Cortex. 2016 Apr;77:95-118. doi: 10.1016/j.cortex.2016.01.010. Epub 2016 Feb 4. Cortex. 2016. PMID: 26922507

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