Publications by authors named "Franco Laccone"

59Publications

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G.

Am J Case Rep 2020 Nov 25;21:e927938. Epub 2020 Nov 25.

Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.12659/AJCR.927938DOI Listing
November 2020

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.

J Vis Exp 2020 05 22(159). Epub 2020 May 22.

Institute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna (MUV).

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http://dx.doi.org/10.3791/61054DOI Listing
May 2020

Variants in and Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure.

J Neurosci Rural Pract 2020 Apr 2;11(2):353-354. Epub 2020 May 2.

Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1055/s-0040-1709375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195953PMC
April 2020

De novo mutation of emopamil binding protein () gene in a girl with Conradi-Hünermann-Happle syndrome.

Clin Case Rep 2019 Aug 28;7(8):1522-1525. Epub 2019 Jun 28.

Department of Dermatology Medical University of Vienna Vienna Austria.

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http://dx.doi.org/10.1002/ccr3.2213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692985PMC
August 2019

Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.

Clin Exp Otorhinolaryngol 2019 Nov 22;12(4):405-411. Epub 2019 Jun 22.

Center for Anatomy and Cell Biology, Department for Cell and Developmental Biology, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.21053/ceo.2019.00304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787484PMC
November 2019

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Orphanet J Rare Dis 2019 06 13;14(1):138. Epub 2019 Jun 13.

Center for Medical Genetics, Ghent University and Ghent University Hospital, 0K5, Corneel Heymanslaan 10, B-9000, Ghent, Belgium.

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http://dx.doi.org/10.1186/s13023-019-1110-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567438PMC
June 2019

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.

Metab Brain Dis 2019 08 1;34(4):1023-1027. Epub 2019 Jun 1.

Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s11011-019-00425-0DOI Listing
August 2019

Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.

J Clin Neurosci 2019 Jun 5;64:4-5. Epub 2019 Apr 5.

Institute of Medical Genetics, Head of the Section "Clinical Genetics", Medical School of Vienna, Vienna, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09675868193038
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http://dx.doi.org/10.1016/j.jocn.2019.03.067DOI Listing
June 2019

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.

Pediatr Blood Cancer 2019 04 19;66(4):e27589. Epub 2018 Dec 19.

Department of Medical Genetics, Kepler University Hospital, Linz, Austria.

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http://dx.doi.org/10.1002/pbc.27589DOI Listing
April 2019

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

Mol Genet Metab Rep 2016 Sep 2;8:1-3. Epub 2016 Jun 2.

Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090, Vienna, Austria.

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http://dx.doi.org/10.1016/j.ymgmr.2016.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471549PMC
September 2016

Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the gene.

Ann Indian Acad Neurol 2017 Jan-Mar;20(1):75-76

Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090, Vienna, Austria.

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http://dx.doi.org/10.4103/0972-2327.194312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341276PMC
March 2017

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up.

Horm Res Paediatr 2017 1;87(3):196-204. Epub 2016 Nov 1.

University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1159/000450947DOI Listing
May 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Painful nodules.

J Dtsch Dermatol Ges 2016 Jun;14(6):627-629

Division of General Dermatology and Dermatooncology, Department of Dermatology, Medical University Vienna, Vienna, Austria.

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http://dx.doi.org/10.1111/ddg.12923DOI Listing
June 2016

Schmerzhafte Knoten.

J Dtsch Dermatol Ges 2016 Jun;14(6):627-629

Abteilung für Allgemeine Dermatologie und Dermato-Onkologie, Universitätsklinik für Dermatologie, Medizinische Universität Wien.

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http://dx.doi.org/10.1111/ddg.12923_gDOI Listing
June 2016

Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay.

Assay Drug Dev Technol 2015 Apr 7;13(3):167-73. Epub 2015 Apr 7.

1 Institute of Medical Genetics, Medical University of Vienna , Vienna, Austria .

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http://www.liebertpub.com/doi/10.1089/adt.2015.635
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http://dx.doi.org/10.1089/adt.2015.635DOI Listing
April 2015

Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.

Cardiology 2015 11;130(1):48-51. Epub 2014 Dec 11.

Krankenanstalt Rudolfstiftung, Vienna, Austria.

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http://dx.doi.org/10.1159/000368222DOI Listing
September 2015

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.

Neuromuscul Disord 2014 Aug 4;24(8):721-5. Epub 2014 Jun 4.

Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090 Vienna, Austria.

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http://dx.doi.org/10.1016/j.nmd.2014.05.010DOI Listing
August 2014

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction.

Int J Cardiol 2014 May 15;173(3):532-5. Epub 2014 Mar 15.

Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.

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http://dx.doi.org/10.1016/j.ijcard.2014.03.025DOI Listing
May 2014

Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome.

Am J Cardiol 2013 Nov 19;112(9):1477-83. Epub 2013 Jul 19.

Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Children's Hospital, Vienna, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029149130144
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http://dx.doi.org/10.1016/j.amjcard.2013.06.019DOI Listing
November 2013

Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures.

Am J Pathol 2013 Jul 15;183(1):195-210. Epub 2013 May 15.

Institute of Human Genetics, Universitätsmedizin Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.ajpath.2013.03.019DOI Listing
July 2013

Variations of frataxin protein levels in normal individuals.

Neurol Sci 2011 Apr 27;32(2):327-30. Epub 2010 May 27.

Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s10072-010-0326-1DOI Listing
April 2011

Case report: Retracing atypical development: a preserved speech variant of Rett syndrome.

J Autism Dev Disord 2009 Jun 18;39(6):958-61. Epub 2009 Feb 18.

Institute of Physiology (Developmental Physiology and Developmental Neurology), Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, Graz 8010, Austria.

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http://dx.doi.org/10.1007/s10803-009-0703-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085750PMC
June 2009

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Am J Med Genet A 2007 May;143A(10):1091-9

Institut für Humangenetik, Georg-August-Universität Göttingen, Heinrich-Düker-Weg 12, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31686DOI Listing
May 2007

Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.

Int J Mol Med 2006 Nov;18(5):799-806

Institute of Human Genetics, University of Goettingen, Goettingen, Germany.

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November 2006

Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

Am J Med Genet A 2005 Aug;137(2):136-8

Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.30764DOI Listing
August 2005

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.

Hum Mutat 2004 Apr;23(4):368-78

Institute of Human Genetics, University of Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1002/humu.20011DOI Listing
April 2004

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

Hum Mutat 2004 Mar;23(3):234-44

Institute of Human Genetics, University of Göttingen, Germany.

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http://dx.doi.org/10.1002/humu.20004DOI Listing
March 2004

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

Hum Mutat 2003 Aug;22(2):107-15

Institute of Human Genetics, University of Göttingen, Göttingen, Germany.

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http://doi.wiley.com/10.1002/humu.10243
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http://dx.doi.org/10.1002/humu.10243DOI Listing
August 2003

The spectrum of phenotypes in females with Rett Syndrome.

Brain Dev 2003 Aug;25(5):346-51

Neuropediatric Department, Abteilung Kinderheilkunde, Georg-August-Universität Göttingen, Robert Koch Strasse 40 37075 Göttingen, Germany.

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http://dx.doi.org/10.1016/s0387-7604(03)00018-4DOI Listing
August 2003

Indication for genetic testing: a checklist for Rett syndrome.

J Pediatr 2003 Mar;142(3):332-5

Neuropediatric Department and Department of Genetic Epidemiology, Institute of Human Genetics, Georg-August-Universität Göttingen, Göttingen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760240346
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http://dx.doi.org/10.1067/mpd.2003.96DOI Listing
March 2003

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2.

Mov Disord 2003 Feb;18(2):222-5

Department of Neurology, University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/mds.10192DOI Listing
February 2003

A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes.

Authors:
Franco Laccone

Methods Mol Biol 2002 ;192:217-23

Institute of Human Genetics, University of Goettingen, Goettingen, Germany.

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http://link.springer.com/10.1385/1-59259-177-9:217
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http://dx.doi.org/10.1385/1-59259-177-9:217DOI Listing
June 2003

Okihiro syndrome is caused by SALL4 mutations.

Hum Mol Genet 2002 Nov;11(23):2979-87

Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1093/hmg/11.23.2979DOI Listing
November 2002