Cristina Jou

Cristina Jou

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Cristina Jou

Cristina Jou

Publications by authors named "Cristina Jou"

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45Publications

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Broadening the spectrum of neonatal hemochromatosis.

J Matern Fetal Neonatal Med 2020 Mar 10;33(6):1024-1026. Epub 2018 Sep 10.

Gastroenterology, Hepatology and Nutrition Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1080/14767058.2018.1506442DOI Listing
March 2020

Sporadic inclusion body myositis: Diagnostic value of p62 immunostaining.

Med Clin (Barc) 2019 12 26;153(11):437-440. Epub 2019 Jun 26.

Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universidad de Barcelona and Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.medcli.2019.04.022DOI Listing
December 2019

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.

Seizure 2019 Oct 25;71:161-165. Epub 2019 Jul 25.

Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine (Medicine Area), Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782, Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.07.019DOI Listing
October 2019

Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.

Front Pharmacol 2018 9;9:1508. Epub 2019 Jan 9.

Instituto Ramón y Cajal de Investigación Sanitaria, Department of Biochemistry and Molecular Biology and Instituto Universitario de Investigación Neuroquímica, Complutense University, Madrid, Spain.

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http://dx.doi.org/10.3389/fphar.2018.01508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334222PMC
January 2019

Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues.

Acta Neurochir (Wien) 2018 12 9;160(12):2489-2500. Epub 2018 Nov 9.

Pediatric Neurosurgery Department, Sant Joan de Déu Barcelona Children's Hospital, Universitat de Barcelona, Passeig de Sant Joan de Déu 2, 08950, Esplugues de Llobregat, Barcelona, Spain.

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http://link.springer.com/10.1007/s00701-018-3720-8
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http://dx.doi.org/10.1007/s00701-018-3720-8DOI Listing
December 2018

Histopathology in HCM.

Glob Cardiol Sci Pract 2018 Aug 12;2018(3):20. Epub 2018 Aug 12.

Servicio de Anatomía Patológica, Unitat patología Neuromuscular, Hospital Sant Joan de Deu, Barcelona, Spain.

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http://dx.doi.org/10.21542/gcsp.2018.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209442PMC
August 2018

Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.

Pediatr Allergy Immunol 2018 06 17;29(4):425-432. Epub 2018 Apr 17.

Allergy and Clinical Immunology Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.

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http://dx.doi.org/10.1111/pai.12890DOI Listing
June 2018

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

Neuromuscul Disord 2017 Feb 11;27(2):188-192. Epub 2016 Nov 11.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain; Centro de Investigación Biomédica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.nmd.2016.11.002DOI Listing
February 2017

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy.

Neuromuscul Disord 2017 Jan 11;27(1):15-23. Epub 2016 Nov 11.

Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.11.003DOI Listing
January 2017

Neuromuscular Manifestations in Mitochondrial Diseases in Children.

Semin Pediatr Neurol 2016 11 9;23(4):290-305. Epub 2016 Nov 9.

Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain; Department of Neurology, Neurometabolic Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.spen.2016.11.004DOI Listing
November 2016

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.

Metab Brain Dis 2016 06 21;31(3):705-9. Epub 2015 Dec 21.

Laboratory of Synaptic Metabolism, Fundació Sant Joan de Déu (FSJD), Barcelona, Spain.

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http://dx.doi.org/10.1007/s11011-015-9780-zDOI Listing
June 2016

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Mitochondrion 2016 May 11;28:73-8. Epub 2016 Apr 11.

Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.04.001DOI Listing
May 2016

Pediatric intranasal lobular capillary hemangioma: Report of two new cases and review of the literature.

Respir Med Case Rep 2016 31;18:31-4. Epub 2016 Mar 31.

Pediatric Rhinology Unit, Otorhinolaryngology Department, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.rmcr.2016.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840420PMC
May 2016

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

Mitochondrion 2015 May 10;22:17-22. Epub 2015 Mar 10.

Departamentos de Neurología, Bioquímica Clínica y de Patología, Hospital Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.03.001DOI Listing
May 2015

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

BMC Pediatr 2014 Nov 8;14:284. Epub 2014 Nov 8.

Clinical Biochemistry, Pediatric Neurology, Histopathology, Gastroenterology-Nutrition and Neuromuscular Unit Departments. Hospital Sant Joan de Déu and Centre For research in rare diseases (CIBERER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12887-014-0284-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228097PMC
November 2014

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

JIMD Rep 2013 21;8:57-62. Epub 2012 Jul 21.

Paediatric Intensive Care Unit, Hospital Sant Jan de Déu and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Esplugues, Spain.

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http://dx.doi.org/10.1007/8904_2012_161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565672PMC
February 2013

Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

J Neuropathol Exp Neurol 2012 Oct;71(10):894-906

Neuromuscular Unit, Neurology Department, Fundación Sant Joan de Déu, Hospital Materno-Infantil Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1097/NEN.0b013e31826c6f7bDOI Listing
October 2012

Ciliocythophthoria and ameboflagellates.

Acta Cytol 2003 Jul-Aug;47(4):705-8

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December 2003