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1

Static Concept for Long-Span and High-Rise Glass Structures

Froli, Maurizio, Laccone, Francesco

Journal:

Journal of Architectural Engineering

Year:

2018

Language:

english

File:

PDF, 2.88 MB

english, 2018

2

Automatic Design of Cable‐Tensioned Glass Shells

Laccone, Francesco, Malomo, Luigi, Froli, Maurizio, Cignoni, Paolo, Pietroni, Nico

Journal:

Computer Graphics Forum

Year:

2019

Language:

english

File:

PDF, 1.65 MB

english, 2019

3

Mild Overexpression of Mecp2 in Mice Causes a Higher Susceptibility toward Seizures

Bodda, Chiranjeevi, Tantra, Martesa, Mollajew, Rustam, Arunachalam, Jayamuruga P., Laccone, Franco A., Can, Karolina, Rosenberger, Albert, Mironov, Sergej L., Ehrenreich, Hannelore, Mannan, Ashraf U.

Journal:

The American Journal of Pathology

Year:

2013

Language:

english

File:

PDF, 2.30 MB

english, 2013

4

Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A

Finsterer, Josef, Stöllberger, Claudia, Sehnal, Ernst, Rehder, Helga, Laccone, Franco

Journal:

Year:

2015

Language:

english

File:

PDF, 274 KB

english, 2015

5

Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study

Samueli, Sharon, Abraham, Klaus, Dressler, Anastasia, Gröppel, Gudrun, Mühlebner-Fahrngruber, Angelika, Scholl, Theresa, Kasprian, Gregor, Laccone, Franco, Feucht, Martha

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 392 KB

english, 2016

6

Dynamics of a new seismic isolation device based on tribological smooth rocking (TROCKSISD)

Froli, Maurizio, Giresini, Linda, Laccone, Francesco

Journal:

Engineering Structures

Year:

2019

Language:

english

File:

PDF, 4.44 MB

english, 2019

7

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

Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 3.27 MB

english, 2019

8

Glass-Steel Triangulated Structures: Parametric Nonlinear Finite-Element Analysis of In-Plane and Out-of-Plane Structural Response of Triangular Laminated Glass Panels

Laccone, Francesco, Louter, Christian, Froli, Maurizio

Journal:

Journal of Architectural Engineering

Year:

2020

File:

PDF, 1.61 MB

2020

9

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

Franco Laccone, Robert Maiwald, Sonja Bingemann

Journal:

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

10

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

Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone, Jutta Gärtner

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 49 KB

english, 2005

11

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion

D. Böhm, K. Hoffmann, F. Laccone, B. Wilken, P. Dechent, J. Frahm, I. Bartels, S.K. Bohlander

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 116 KB

english, 2006

12

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

S.M. Sauter, Detlef Böhm, Iris Bartels, Peter Burfeind, Franco A. Laccone, Jürgen Neesen, Bernd Wilken, Thomas Liehr, Barbara Zoll

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 291 KB

english, 2007

13

Protein surveillance machinery in brains with spinocerebellar ataxia type 3: Redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions

Thorsten Schmidt, Katrin S. Lindenberg, Antje Krebs, Ludger Schöls, Franco Laccone, Jochen Herms, Martin Rechsteiner, Olaf Riess, G. Bernhard Landwehrmeyer

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.69 MB

english, 2002

14

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Ingrid Bauer, Martin Gencik, Franco Laccone, Hartmut Peters, Bernhard H. F. Weber, Elke Holinski Feder, Helga Weirich, Deborah J. Morris-Rosendahl, Arndt Rolfs, Alexandra Gencikova, Peter Bauer, Grego

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

15

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

Gabriel Miltenberger-Miltenyi, Franco Laccone

Journal:

Year:

2003

Language:

english

File:

PDF, 188 KB

english, 2003

16

Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease

P. Seeman, F. Laccone, J. Reiss, G. Stoppe

Journal:

Year:

1995

Language:

english

File:

PDF, 148 KB

english, 1995

17

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

Detlef Boehm, Sabine Herold, Alma Kuechler, Thomas Liehr, Franco Laccone

Journal:

Year:

2004

Language:

english

File:

PDF, 430 KB

english, 2004

18

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

Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

Journal:

Year:

2004

Language:

english

File:

PDF, 534 KB

english, 2004

19

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

Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

Journal:

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

20

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

F. Laccone, P. Huppke, F. Hanefeld, M. Meins

Journal:

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

21

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2

Walter Pirker, Claude Back, Willibald Gerschlager, Franco Laccone, Francois Alesch

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

22

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

D. Bœhm, F. Laccone, P. Burfeind, S. Herold, C. Schubert, B. Zoll, J. Männer, H. U. Pauer, I. Bartels

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

23

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

Nana Bit-Avragim, Andreas Perrot, Ludger Schöls, Cornelia Hardt, Friedmar R. Kreuz, Christine Zühlke, Stefanie Bubel, Franco Laccone, Hans-Peter Vogel, Rainer Dietz, Karl Josef Osterziel

Journal:

Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

24

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3

K. Bürk, M. Fetter, M. Abele, F. Laccone, A. Brice, J. Dichgans, T. Klockgether

Journal:

Journal of Neurology

Year:

1999

Language:

english

File:

PDF, 140 KB

english, 1999

25

Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3

Michael Abele, Katrin Bürk, Franco Laccone, Johannes Dichgans, Thomas Klockgether

Journal:

Journal of Neurology

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

26

Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease

Silke Metzger, Peter Bauer, Jürgen Tomiuk, Franco Laccone, Stefano DiDonato, Cinzia Gellera, Caterina Mariotti, Herwig W. Lange, Helga Weirich-Schwaiger, Gregor K. Wenning, Klaus Seppi, Bela Melegh, V

Journal:

Year:

2006

Language:

english

File:

PDF, 317 KB

english, 2006

27

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

C. Zühlke, Franco Laccone, Mireille Cossée, Alfried Kohlschütter, Michel Koenig, Eberhard Schwinger

Journal:

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

28

De novoMECP2mutation in a 46,XX male patient with Rett syndrome

Robert Maiwald, Anselm Bönte, Helena Jung, Pavel Bitter, Zoe Storm, Franco Laccone, Peter Herkenrath

Journal:

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

29

The S18Y polymorphism in theUCHL1gene is a genetic modifier in Huntington’s disease

Silke Metzger, Peter Bauer, Juergen Tomiuk, Franco Laccone, Stefano Didonato, Cinzia Gellera, Paola Soliveri, Herwig W. Lange, Helga Weirich-Schwaiger, Gregor K. Wenning, Bela Melegh, Victoria Havasi,

Journal:

Year:

2006

Language:

english

File:

PDF, 95 KB

english, 2006

30

SCA2trinucleotide expansion in German SCA patients

Olaf Riess, Franco A. Laccone, Suzana Gispert, Ludger Schöls, Christine Zühlke, Ana Maria Menezes Vieira-Saecker, Susanne Herlt, Karl Wessel, Jörg T. Epplen, Bernhard H.F. Weber, Friedmar Kreuz, Sohey

Journal:

Year:

1997

Language:

english

File:

PDF, 102 KB

english, 1997

31

Variations of frataxin protein levels in normal individuals

Therese Boehm, Barbara Scheiber-Mojdehkar, Britta Kluge, Hans Goldenberg, Franco Laccone, Brigitte Sturm

Journal:

Neurological Sciences

Year:

2011

Language:

english

File:

PDF, 211 KB

english, 2011

32

Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

Peter B. Marschik, Christa Einspieler, Andreas Oberle, Franco Laccone, Heinz F. R. Prechtl

Journal:

Journal of Autism and Developmental Disorders

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

33

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study

F Laccone, MC Hannibal, J Neesen, W Grisold, PF Chance, H Rehder

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 261 KB

english, 2008

34

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

B Auber, P Burfeind, C Thiels, EA Alsat, M Shoukier, T Liehr, H Nelle, I Bartels, G Salinas-Riester, F Laccone

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 718 KB

english, 2010

35

‘Relabelling the preserved speech variant of Rett syndrome?’

Peter B Marschik, Christa Einspieler, Heinz FR Prechtl, Andreas Oberle, Franco Laccone

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

36

An Isoform of Ataxin-3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients

Thorsten Schmidt, G. Bernhard Landwehrmeyer, Ina Schmitt, Yvon Trottier, Georg Auburger, Franco Laccone, Thomas Klockgether, Michael Völpel, Jörg T. Epplen, Ludger Schöls, Olaf Riess

Journal:

Brain Pathology

Year:

1998

Language:

english

File:

PDF, 191 KB

english, 1998

37

Leupaxin acts as a mediator in prostate carcinoma progression through deregulation of p120catenin expression

Kaulfuß, S, von Hardenberg, S, Schweyer, S, Herr, A M, Laccone, F, Wolf, S, Burfeind, P

Journal:

Year:

2009

Language:

english

File:

PDF, 922 KB

english, 2009

38

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

Losekoot, Monique, Bakker, Bert, Laccone, Franco, Stenhouse, Su, Elles, Rob

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 78 KB

english, 1999

39

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Borg, Isabella, Freude, Kristine, Kübart, Sabine, Hoffmann, Kirsten, Menzel, Corinna, Laccone, Franco, Firth, Helen, Ferguson-Smith, Malcolm A, Tommerup, Niels, Ropers, Hans-Hilger

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 195 KB

english, 2005

40

A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats

Jana Boy, Thorsten Schmidt, Ulrike Schumann, Ute Grasshoff, Samy Unser, Carsten Holzmann, Ina Schmitt, Tim Karl, Franco Laccone, Hartwig Wolburg, Saleh Ibrahim, Olaf Riess

Journal:

Neurobiology of Disease

Year:

2010

Language:

english

File:

PDF, 1.94 MB

english, 2010

41

The spectrum of phenotypes in females with Rett Syndrome

Peter Huppke, Melanie Held, Franco Laccone, Folker Hanefeld

Journal:

Brain and Development

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

42

Novel mutation in the carboxyl-terminal propeptide of the procollagen α1(I) chain in a girl with prenatal cortical hyperostosis and multiple fractures

K.M. Roetzer, F. Laccone, A. Krebs, F. Grill, S. Robins, F. Varga, K. Klaushofer, A. Al Kaissi

Journal:

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

43

Indication for genetic testing: A checklist for Rett syndrome

Peter Huppke, Karola Köhler, Franco Laccone, Folker Hanefeld

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

44

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters

Franco Laccone, Wilhelm Christian

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 115 KB

english, 2000

45

MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

R. Trappe, F. Laccone, J. Cobilanschi, M. Meins, P. Huppke, F. Hanefeld, W. Engel

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

46

Repeat length and disease progression in spinocerebellar ataxia type 3

T Klockgether, B Kramer, R Lüdtke, L Schöls, F Laccone

Journal:

Year:

1996

Language:

english

File:

PDF, 18 KB

english, 1996

47

Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3: In Vivo Evidence

Bichelmeier, U., Schmidt, T., Hubener, J., Boy, J., Ruttiger, L., Habig, K., Poths, S., Bonin, M., Knipper, M., Schmidt, W. J., Wilbertz, J., Wolburg, H., Laccone, F., Riess, O.

Journal:

Journal of Neuroscience

Year:

2007

Language:

english

File:

PDF, 661 KB

english, 2007

48

Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie

A. Al Kaissi,F. Laccone,C. Karner,R. Ganger,K. Klaushofer,F. Grill

Journal:

Year:

2013

Language:

german

File:

PDF, 490 KB

german, 2013

49

Usefulness of Losartan on the Size of the Ascending Aorta in an Unselected Cohort of Children, Adolescents, and Young Adults With Marfan Syndrome

Pees, Christiane, Laccone, Franco, Hagl, Marion, DeBrauwer, Veerle, Moser, Elisabeth, Michel-Behnke, Ina

Journal:

The American Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 446 KB

english, 2013

50

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

Finsterer, Josef, Stöllberger, Claudia, Brandau, Oliver, Laccone, Franco, Bichler, Katharina, Laing, Nigel G

Journal:

International Journal of Cardiology

Year:

2014

Language:

english

File:

PDF, 186 KB

english, 2014

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