Maria CarissaPinedaMD

PubMed

• The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
  Vidal, S.,Brandi, N.,Pacheco, P.,Maynou, J.,Fernandez, G.,Xiol, C.,Pascual-Alonso, A.,Pineda, M.,Armstrong, J.> ;Eur. J. Paediatr. Neurol.. 2019 May 21
• 7 citations
  High-Resolution Pulse Oximetry (HRPO): A Cost-Effective Tool in Screening for Obstructive Sleep Apnea (OSA) in Acute Stroke and Predicting Outcome.
  Sridhara Sastry Yaddanapudi, Maria Carissa Pineda, David W. Boorman, Richard E. Bryne, Krista Lim Hing, Sunil Sharma> ;Journal of Stroke and Cerebrovascular Diseases. 2018 Aug 7
• 3 citations
  Pennsylvania comprehensive stroke center collaborative: Statement on the recently updated IV rt-PA prescriber information for acute ischemic stroke
  Badih Daou, Maureen DePrince, Robin D'Ambrosio, Stavropoula Tjoumakaris, Robert H. Rosenwasser, Daniel J. Ackerman, Rodney Bell, Diana Tzeng, Michelle Ghobrial, Andres...> ;Clinical Neurology and Neurosurgery. 2015 Dec 1
• Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
  Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A> ;Mol. Genet. Metab.. 2015-01-01
• 3 citations
  Cerebral venous sinus thrombosis secondary to typhoid fever: a case report and brief summary of the literature.
  Maria Carissa Pineda, Carla Lopinto-Khoury> ;The Neurologist. 2012 Jul 1
• Hypokinetic-rigid syndrome in children and inborn errors of metabolism.
  García-Cazorla A, Ortez C, Pérez-Dueñas B, Serrano M, Pineda M, Campistol J, Fernández-Álvarez E> ;Eur. J. Paediatr. Neurol.. 2011-07-01
• Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.
  Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJG, Roldán S, Fumero LM, de la Barca OB, Si...> ;Mol. Genet. Metab.. 2010-04-01
• Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
  Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina ...> ;J. Med. Genet.. 2010-01-01
• Inborn errors of metabolism and motor disturbances in children.
  García-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, Fernández-Alvarez E, Colomer J, DiMauro S, Hoffmann GF> ;J. Inherit. Metab. Dis.. 2009-10-01
• Vanishing white matter disease associated with progressive macrocephaly.
  Pineda M, R-Palmero A, Baquero M, O'Callaghan M, Aracil A, van der Knaap M, Scheper GC> ;Neuropediatrics. 2008-02-01
• Secondary abnormalities of neurotransmitters in infants with neurological disorders.
  García-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazábal A, Pineda M, Fernández-Alvarez E, Campistol JMD, Artuch RMD> ;Dev Med Child Neurol. 2007-10-01
• [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].
  Campistol J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch R, Ribes A> ;Rev Neurol. 2007-01-01
• Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.
  Iturriaga C, Pineda M, Fernández-Valero EM, Vanier MT, Coll MJ> ;J. Neurol. Sci.. 2006-11-01
• Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.
  Ormazabal A, Artuch R, Vilaseca MA, Aracil A, Pineda M> ;Neuropediatrics. 2005-12-01
• Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.
  Solano A, Gámez J, Carod FJ, Pineda M, Playán A, López-Gallardo E, Andreu AL, Montoya J> ;J. Med. Genet.. 2003-07-01
• CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
  Vilaseca MA, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V> ;J. Inherit. Metab. Dis.. 2003-01-01
• Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
  Armstrong J, Pineda M, Aibar E, Geán E, Monrós E> ;Ann. Neurol.. 2001-11-01
• Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
  de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS> ;Neuropediatrics. 2000-12-01
• 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.
  Pineda M, Vilaseca MA, Artuch R, Santos S, García González MM, Aracil A, Van Schaftingen E, Jaeken J> ;Dev Med Child Neurol. 2000-09-01
• Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status.
  Cardo E, Monrós E, Colomé C, Artuch R, Campistol J, Pineda M, Vilaseca MA> ;J. Child Neurol.. 2000-05-01
• Anti-epileptic drug treatment in children: hyperhomocysteinaemia, B-vitamins and the 677C-->T mutation of the methylenetetrahydrofolate reductase gene.
  Vilaseca MA, Monrós E, Artuch R, Colomé C, Farré C, Valls C, Cardo E, Pineda M> ;Eur. J. Paediatr. Neurol.. 2000-01-01
• Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.
  Pineda M, Girós M, Roels F, Espeel M, Ruiz M, Moser A, Moser HW, Wanders RJ, Pavia C, Conill J, Aracil A, Amat L, Pampols T> ;J. Child Neurol.. 1999-07-01
• [Ubiquinone: metabolism and functions. Ubiquinone deficiency and its implication in mitochondrial encephalopathies. Treatment with ubiquinone].
  Artuch R, Colomé C, Vilaseca MA, Pineda M, Campistol J> ;Rev Neurol. 1999-01-01
• Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.
  De Castro M, Cruz-Martínez A, Vílchez JJ, Sevilla T, Pineda M, Berciano J, Palau F> ;J. Peripher. Nerv. Syst.. 1999-01-01
• Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.
  Pineda M, Ribes A, Busquets C, Vilaseca MA, Aracil A, Christensen E> ;Dev Med Child Neurol. 1998-12-01
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