Francina Munell

Francina Munell

Francina Munell

Francina Munell

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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Hum Mutat 2019 Jul 21;40(7):865-878. Epub 2019 May 21.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23772DOI Listing
July 2019

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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http://dx.doi.org/10.1007/s00415-019-09239-7DOI Listing
May 2019

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Muscle Nerve 2019 04 10;59(4):436-444. Epub 2019 Jan 10.

Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital.

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http://dx.doi.org/10.1002/mus.26403DOI Listing
April 2019

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Muscle Nerve 2018 12 18;58(6):812-817. Epub 2018 Nov 18.

APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France.

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http://doi.wiley.com/10.1002/mus.26312
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http://dx.doi.org/10.1002/mus.26312DOI Listing
December 2018

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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http://dx.doi.org/10.1055/s-0038-1626709DOI Listing
August 2018

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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http://dx.doi.org/10.1097/INF.0000000000001668DOI Listing
December 2017

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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http://dx.doi.org/10.1016/j.ejmg.2017.07.007DOI Listing
October 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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http://dx.doi.org/10.1016/j.ejmg.2017.03.010DOI Listing
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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074179PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769234PMC
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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http://dx.doi.org/10.1177/0883073812460580DOI Listing
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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http://dx.doi.org/10.1152/physiolgenomics.90370.2008DOI Listing
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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http://dx.doi.org/10.1016/j.nmd.2007.05.007DOI Listing
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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http://www.jbc.org/content/281/23/15853.full.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M512370200
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http://dx.doi.org/10.1074/jbc.M512370200DOI Listing
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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http://dx.doi.org/10.1210/jc.2005-1192DOI Listing
November 2005

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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http://dx.doi.org/10.1095/biolreprod.103.025619DOI Listing
November 2004

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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http://dx.doi.org/10.1007/s00401-004-0908-1DOI Listing
November 2004

Increased expression of estrogen receptor beta in pachytene spermatocytes after short-term methoxyacetic acid administration.

J Androl 2004 Jan-Feb;25(1):84-94

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

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August 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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http://dx.doi.org/10.1007/s00401-003-0773-3DOI Listing
January 2004

Methoxyacetic acid disregulation of androgen receptor and androgen-binding protein expression in adult rat testis.

Biol Reprod 2003 Apr 27;68(4):1437-46. Epub 2002 Nov 27.

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

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http://dx.doi.org/10.1095/biolreprod.102.004937DOI Listing
April 2003

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

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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http://dx.doi.org/10.1016/s0076-6879(02)56930-5DOI Listing
December 2002

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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http://dx.doi.org/10.1002/mus.10268DOI Listing
December 2002