Publications by authors named "Francina Munell"

36Publications

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 May 14;266(5):1107-1112. Epub 2019 Feb 14.

Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Marchioninistrasse 17, 81377, Munich, Germany.

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May 2019

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Neuropediatrics 2018 08 22;49(4):296-297. Epub 2018 Feb 22.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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August 2018

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

Eur J Med Genet 2017 Oct 12;60(10):517-520. Epub 2017 Jul 12.

Paediatric Neurology Research Group, Vall d'Hebron University Hospital, Passeig Vall d'Hebrón 119-129, 08035 Barcelona, Spain; Autonomous University of Barcelona, Barcelona, Spain.

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October 2017

First Cases of Severe Flaccid Paralysis Associated With Enterovirus D68 Infection in Spain, 2015-2016.

Pediatr Infect Dis J 2017 Dec;36(12):1214-1216

From the *Spanish National Poliovirus Laboratory, National Centre for Microbiology, Institute of Health "Carlos III", Madrid, Spain; †Department of Pediatrics and **Department of Microbiology, Miguel Servet Hospital, Zaragoza, Spain; ‡Department of Pediatrics, Vall d'Hebron University Hospital and Autonoma University, Barcelona, Spain; §Department of Pediatrics and §§Department of Preventive Medicine, University Hospital of Vigo (Alvaro Cunqueiro Hospital), Vigo, Pontevedra, Spain; ¶University Hospital Germans Trias i Pujol School of Medicine, Barcelona, Spain; ‖Department of Microbiology, University Hospital of Vigo (Meixoeiro Hospital), Vigo, Spain; ††Department of Microbiology, Vall d'Hebron University Hospital, Vall d'Hebron Research Institute, Barcelona, Spain; ‡‡Department of Microbiology, Santa Creu i Sant Pau Hospital, Barcelona, Spain; and ¶¶National Centre for Epidemiology, Institute of Health "Carlos III" and CIBERESP, Madrid, Spain.

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December 2017

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Eur J Med Genet 2017 Jun 24;60(6):303-307. Epub 2017 Mar 24.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, CIBERER, Barcelona, Spain. Electronic address:

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June 2017

Diabetes protects from prostate cancer by downregulating androgen receptor: new insights from LNCaP cells and PAC120 mouse model.

PLoS One 2013 10;8(9):e74179. Epub 2013 Sep 10.

Diabetes and Metabolism Research Unit, Vall Hebron Institut de Recerca (VHIR). Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM, ISCIII), Barcelona, Spain.

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June 2014

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.

J Child Neurol 2013 Nov 3;28(11):1531-1534. Epub 2012 Oct 3.

1Servei de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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November 2013

Muscle genome-wide expression profiling during disease evolution in mdx mice.

Physiol Genomics 2009 Apr 17;37(2):119-32. Epub 2009 Feb 17.

Laboratori de Neurologia Infantil, Institut de Recerca, Barcelona, Spain.

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April 2009

Laser microdissection-based expression analysis of key genes involved in muscle regeneration in mdx mice.

Neuromuscul Disord 2007 Oct 3;17(9-10):707-18. Epub 2007 Jul 3.

Laboratori de Neurología Infantil, Institut de Recerca Hospital Universitari Vall d'Hebron, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.

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October 2007

Evidence that fibulin family members contribute to the steroid-dependent extravascular sequestration of sex hormone-binding globulin.

J Biol Chem 2006 Jun 6;281(23):15853-61. Epub 2006 Apr 6.

Department of Obstetrics and Gynecology, University of British Columbia, and Child and Family Research Institute, Vancouver V5Z 4H4, Canada.

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June 2006

Human sperm sex hormone-binding globulin isoform: characterization and measurement by time-resolved fluorescence immunoassay.

J Clin Endocrinol Metab 2005 Nov 30;90(11):6275-82. Epub 2005 Aug 30.

Department of Obstetrics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, British Columbia, Canada V5Z 4H4.

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November 2005

Evolution of pathological changes in the gastrocnemius of the mdx mice correlate with utrophin and beta-dystroglycan expression.

Acta Neuropathol 2004 Nov 10;108(5):443-52. Epub 2004 Sep 10.

Grup de Recerca de Malalties Neuro-Metabòliques, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.

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November 2004

Estrogen receptor beta expression and apoptosis of spermatocytes of mice overexpressing a rat androgen-binding protein transgene.

Biol Reprod 2004 Nov 23;71(5):1461-8. Epub 2004 Jun 23.

Grup de Recerca en Endocrinologia Molecular, Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron, 119-129, 08035 Barcelona, Spain.

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November 2004

Longitudinal pathologic study of the gastrocnemius muscle group in mdx mice.

Acta Neuropathol 2004 Jan 7;107(1):27-34. Epub 2003 Oct 7.

Secció Neurologia Infantil, Hospital Universitari Vall d'Hebron, Passeig Vall d' Hebron 119-129, 08035, Barcelona, Spain. manroig@ cs.vhebron.es

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January 2004

Naturally occurring cell death during postnatal development of rat skeletal muscle.

Muscle Nerve 2002 Dec;26(6):777-83

Unitat de Recerca Biomèdica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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December 2002

Laser capture microdissection to assess development.

Methods Enzymol 2002 ;356:145-56

Department of Cell Biology, Georgetown University Medical School, Washington, D.C. 20007, USA.

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December 2002

Androgen-binding protein and reproduction: where do we stand?

J Androl 2002 Sep-Oct;23(5):598-609

Unitat de Recerca Biomèdica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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February 2003