Publications by authors named "Andres Nascimento"

58Publications

Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.

J Mol Diagn 2020 Oct 24. Epub 2020 Oct 24.

Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain; Genetic Medicine-IPER, Hospital Sant Joan de Déu, Barcelona, Spain; Clinic Institute of Medicine and Dermatology, Hospital Clínic, Barcelona, Spain; Division of Pediatrics, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2020.10.006DOI Listing
October 2020

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.

Front Neurol 2020 21;11:304. Epub 2020 Apr 21.

Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.3389/fneur.2020.00304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186470PMC
April 2020

[Diagnosis and treatment of congenital myopaties].

Medicina (B Aires) 2019 ;79 Suppl 3:82-86

Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Sant Joan de Déu, Barcelona, España. E-mail:

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October 2019

[Advances in the treatment of Duchenne muscular dystrophy].

Medicina (B Aires) 2019 ;79 Suppl 3:77-81

Unidad de Patología Neuromuscular, Servicio de Neurología Pediátrica, Hospital Sant Joan de Déu, Universidad de Barcelona, España.

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October 2019

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.

Neurol Neuroimmunol Neuroinflamm 2019 09 24;6(5). Epub 2019 Jul 24.

From the Neuromuscular Unit (L.C.-G., D.N.B., C.O., J.C., A.N.), Neurology Service, Research Institute, Sant Joan de Deu Children's Hospital, University of Barcelona; Neuromuscular Diseases Unit (C.L., L.Q.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona; Centro Investigación Biomédica en Red para Enfermedades Raras (CIBERER) (C.L., J.D., L.Q., T.A.), Madrid; Neuroimmunology Program (A.S., J.D., T.A.), Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS)-Hospital Clínic, University of Barcelona; Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain; Department of Neurology (J.D.), University of Pennsylvania, Philadelphia; and Pediatric Neuroimmunology Unit (T.A.), Sant Joan de Deu Children's Hospital, University of Barcelona, Spain.

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http://dx.doi.org/10.1212/NXI.0000000000000602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705623PMC
September 2019

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient.

J Clin Neuromuscul Dis 2018 12;20(2):100-101

Neuromuscular Pathology Unit, Service of Neurology, Hospital "Sant Joan de Déu," Esplugues de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1097/CND.0000000000000217DOI Listing
December 2018

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

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

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

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.

BMC Pediatr 2014 Oct 4;14:252. Epub 2014 Oct 4.

Neuromuscular Unit, Neurology Department, Fundación Sant Joan de Déu, Hospital Materno-Infantil Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain.

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http://bmcpediatr.biomedcentral.com/articles/10.1186/1471-24
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http://dx.doi.org/10.1186/1471-2431-14-252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287395PMC
October 2014

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.

Anal Bioanal Chem 2014 Jul 2;406(18):4337-43. Epub 2014 May 2.

Clinical Biochemistry Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007/s00216-014-7832
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http://link.springer.com/10.1007/s00216-014-7832-6
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http://dx.doi.org/10.1007/s00216-014-7832-6DOI Listing
July 2014

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

[Fractures in spinal muscular atrophy].

Rev Neurol 2013 Sep;57(5):207-11

Unidad de Enfermedades Neuromusculares, Servicio de Rehabilitación y Medicina Física, Hospital Universitari Sant Joan de Déu, 08950 Esplugues de Llobregat, Barcelona, España.

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September 2013

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

JIMD Rep 2013 6;7:123-8. Epub 2012 Jul 6.

Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia - CSIC and CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.

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http://dx.doi.org/10.1007/8904_2012_166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575052PMC
February 2013

[Hypotonia in the neonatal period: 12 years' experience].

Rev Neurol 2013 Jan;56(2):72-8

Servicio de Neurología Pediátrica, Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana.

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January 2013

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Mol Genet Metab 2012 Nov 31;107(3):409-15. Epub 2012 Aug 31.

Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Instituto de Investigación Biomédica Pi Sunyer, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2012.08.018DOI Listing
November 2012

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

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Pediatr Res 2010 Aug;68(2):151-4

Laboratory of Mitochondrial Disorders, Institut de Recerca Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1203/PDR.0b013e3181e33bbeDOI Listing
August 2010

Mitochondrial diseases mimicking neurotransmitter defects.

Mitochondrion 2008 Jun 21;8(3):273-8. Epub 2008 May 21.

Neurology Department, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2008.05.001DOI Listing
June 2008

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

Ann Neurol 2006 Feb;59(2):394-8

Servicios de Neuropediatría, Bioquímica y Endocrinología, Hospital Sant Joan de Déu, Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/ana.20746DOI Listing
February 2006