Publications by authors named "Eduardo F Tizzano"

56Publications

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Am J Med Genet A 2020 Sep 8. Epub 2020 Sep 8.

Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61839DOI Listing
September 2020

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.

Eur J Paediatr Neurol 2020 Sep 9;28:38-43. Epub 2020 Jul 9.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre, Great Ormond Street Hospital for Children, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347351PMC
September 2020

Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

Med Clin (Barc) 2020 07 13;155(2):77-81. Epub 2020 Mar 13.

Área de Genética Clínica y Molecular, Hospital Universitario Vall d'Hebron, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2020.01.001DOI Listing
July 2020

244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.

Neuromuscul Disord 2020 01 9;30(1):93-103. Epub 2019 Nov 9.

Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, 4000 Belgium; MDUK Neuromuscular Center, Paediatric Department, University of Oxford, Oxford OX1 2JD, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.11.002DOI Listing
January 2020

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Mol Genet Genomic Med 2019 12 30;7(12):e1016. Epub 2019 Oct 30.

Pediatric Infectious Diseases and Immunodeficiencies Unit, Department of Pediatrics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/mgg3.1016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900354PMC
December 2019

Treating neonatal spinal muscular atrophy: A 21st century success story?

Early Hum Dev 2019 11 8;138:104851. Epub 2019 Oct 8.

Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute (VHIR), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2019.104851DOI Listing
November 2019

Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".

Ann Neurol 2019 11 3;86(5):803. Epub 2019 Oct 3.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25597DOI Listing
November 2019

Severe brain involvement in 5q spinal muscular atrophy type 0.

Ann Neurol 2019 09 24;86(3):458-462. Epub 2019 Jul 24.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25549DOI Listing
September 2019

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

Eur J Hum Genet 2019 12 3;27(12):1774-1782. Epub 2019 May 3.

Department of Clinical and Molecular Genetics Hospital Valle Hebron, Medicine Genetics Group VHIR, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0415-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871529PMC
December 2019

Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention.

Eur J Paediatr Neurol 2018 Nov 3;22(6):944-950. Epub 2018 Sep 3.

1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183033
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http://dx.doi.org/10.1016/j.ejpn.2018.08.009DOI Listing
November 2018

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Muscle Nerve 2019 01 16;59(1):137-141. Epub 2018 Dec 16.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.26305DOI Listing
January 2019

Advanced therapies in rare diseases: the example of spinal muscular atrophy.

Med Clin (Barc) 2018 10 21;151(7):275-277. Epub 2018 Apr 21.

Área de Genética Clínica y Molecular-Unidad Funcional de Enfermedades Raras, Grupo de Medicina Genética VHIR, CIBERER, Hospital Universitario Vall d'Hebron, Barcelona, España. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00257753183016
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http://dx.doi.org/10.1016/j.medcli.2018.03.001DOI Listing
October 2018

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Neuromuscul Disord 2018 03 11;28(3):208-215. Epub 2018 Jan 11.

Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), 08035 Barcelona, Spain; CB06/07/0011 group, CIBERER, Barcelona, Spain; Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, 08035 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.01.003DOI Listing
March 2018

Spinal muscular atrophy: A changing phenotype beyond the clinical trials.

Neuromuscul Disord 2017 Oct 17;27(10):883-889. Epub 2017 May 17.

Nemours Children's Hospital, Orlando, FL, USA; University of Central Florida College of Medicine, Orlando, FL, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173015
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http://dx.doi.org/10.1016/j.nmd.2017.05.011DOI 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

Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.

Front Mol Neurosci 2016 24;9:76. Epub 2016 Aug 24.

Laboratorio de Genética Bioquímica, Facultad de Veterinaria, Instituto Agroalimentario de Aragón (IA2), Centro de Investigación y Tecnología Agroalimentaria de Aragón, Instituto de Investigación Sanitaria Aragón, Universidad de Zaragoza Zaragoza, Spain.

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http://dx.doi.org/10.3389/fnmol.2016.00076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995219PMC
September 2016

Analysis of the C9orf72 gene in spinal muscular atrophy patients.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Dec 7;15(7-8):563-8. Epub 2014 Jul 7.

Servei de Genètica, Hospital de la Santa Creu i Sant Pau , Barcelona.

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http://dx.doi.org/10.3109/21678421.2014.929148DOI Listing
December 2014

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

J Neuropathol Exp Neurol 2014 Jun;73(6):559-67

From the Department of Molecular Biology, Hospital La Princesa, Madrid (RM-H); and Department of Genetics, IIB Sant Pau Research Institute, Hospital de Sant Pau and Centro de Investigación Biomédica en Red de Enfermedades Raras (SB, LA); and Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Passeig Valle Hebron (EFT), Barcelona, Spain.

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http://dx.doi.org/10.1097/NEN.0000000000000078DOI Listing
June 2014

Synaptic defects in type I spinal muscular atrophy in human development.

J Pathol 2013 Jan;229(1):49-61

Department of Genetics, Hospital de la Santa Creu i Sant Pau and IIB Sant Pau, Avda Sant Antoni Maria Claret 167, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1002/path.4080DOI Listing
January 2013

UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2.

J Pediatr Gastroenterol Nutr 2012 Nov;55(5):e136-7

Hospital Universitario Materno-Infantil, Spain.

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http://dx.doi.org/10.1097/MPG.0b013e318234ecd9DOI Listing
November 2012

Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning.

J Matern Fetal Neonatal Med 2012 Dec 9;25(12):2555-8. Epub 2012 Jul 9.

Department of Obstetrics and Gynecology, Hospital Sant Pau, and Ciberer U-705(3), Barcelona, Spain.

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http://dx.doi.org/10.3109/14767058.2012.703720DOI Listing
December 2012

Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.

Histochem Cell Biol 2012 May 1;137(5):657-67. Epub 2012 Feb 1.

Departamento de Anatomía y Biología Celular, Faculty of Medicine, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Universidad de Cantabria-IFIMAV, Avd. Cardenal Herrera Oria s/n, 39011 Santander, Spain.

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http://dx.doi.org/10.1007/s00418-012-0921-8DOI Listing
May 2012

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.

Neuromuscul Disord 2012 May 20;22(5):394-400. Epub 2012 Jan 20.

Department of Neurology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.nmd.2011.11.006DOI Listing
May 2012

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

Eur J Hum Genet 2011 Oct 25;19(10):1059-65. Epub 2011 May 25.

Department of Genetics and CIBERER U-705 ISCIII, Hospital de Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2011.89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190259PMC
October 2011

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.

Neuromuscul Disord 2011 Jun 4;21(6):413-9. Epub 2011 May 4.

Servicio de Genética, Hospital de la Santa Creu i Sant Pau, and CIBERER U-705, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2011.03.009DOI Listing
June 2011

Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.

Clin Neurol Neurosurg 2009 Sep 21;111(7):574-8. Epub 2009 May 21.

Stroke Unit of the Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clineuro.2009.04.004DOI Listing
September 2009

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.

Blood 2008 Apr 9;111(7):3468-78. Epub 2008 Jan 9.

Department of Genetics and Centro de Investigación Biomédica en Red de Enfermadades Raras Instituto de Salud Carlos III, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1182/blood-2007-08-108068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2275016PMC
April 2008

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 11;15(10):1090-3. Epub 2007 Jul 11.

Department of Genetics, Hospital de Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.ejhg.5201886DOI Listing
October 2007

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

J Neuropathol Exp Neurol 2005 Mar;64(3):215-23

Department of Genetics and Research Institute, Hospital Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1093/jnen/64.3.215DOI Listing
March 2005

Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.

Neuromuscul Disord 2005 Mar 28;15(3):253-8. Epub 2005 Jan 28.

Servei de Genètica and Institut de Recerca, Hospital de Sant Pau, Av. Padre Claret 167, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2004.11.006DOI Listing
March 2005

Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.

J Neuropathol Exp Neurol 2003 Apr;62(4):420-6

Servei de Genètica, Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1093/jnen/62.4.420DOI Listing
April 2003

Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.

Brain 2002 Jul;125(Pt 7):1624-34

Servei de Genètica and Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1093/brain/awf155DOI Listing
July 2002

Should gamete donors be tested for spinal muscular atrophy?

Fertil Steril 2002 Feb;77(2):409-11

Genetics and Research Institute, Hospital de Sant Pau, Padre Claret 167, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1016/s0015-0282(01)02994-6DOI Listing
February 2002