Franco Laccone : rechercher sur Z-Library

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Articles (56)
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1

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

Année:

2013

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2013

2

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:

Année:

2015

Langue:

english

Fichier:

PDF, 274 KB

english, 2015

3

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

Année:

2016

Langue:

english

Fichier:

PDF, 392 KB

english, 2016

4

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

Année:

2019

Langue:

english

Fichier:

PDF, 3.27 MB

english, 2019

5

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

Franco Laccone, Robert Maiwald, Sonja Bingemann

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 264 KB

english, 1999

6

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

Année:

2005

Langue:

english

Fichier:

PDF, 49 KB

english, 2005

7

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

Année:

2007

Langue:

english

Fichier:

PDF, 291 KB

english, 2007

8

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

Année:

2002

Langue:

english

Fichier:

PDF, 2.69 MB

english, 2002

9

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

Année:

2002

Langue:

english

Fichier:

PDF, 60 KB

english, 2002

10

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

Gabriel Miltenberger-Miltenyi, Franco Laccone

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 188 KB

english, 2003

11

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:

Année:

2004

Langue:

english

Fichier:

PDF, 534 KB

english, 2004

12

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:

Année:

2004

Langue:

english

Fichier:

PDF, 430 KB

english, 2004

13

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:

Année:

2004

Langue:

english

Fichier:

PDF, 106 KB

english, 2004

14

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2

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

Journal:

Movement Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 132 KB

english, 2003

15

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

Année:

2001

Langue:

english

Fichier:

PDF, 65 KB

english, 2001

16

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

Année:

2001

Langue:

english

Fichier:

PDF, 187 KB

english, 2001

17

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:

Année:

2006

Langue:

english

Fichier:

PDF, 317 KB

english, 2006

18

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:

Année:

1998

Langue:

english

Fichier:

PDF, 70 KB

english, 1998

19

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:

Année:

2002

Langue:

english

Fichier:

PDF, 102 KB

english, 2002

20

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:

Année:

2006

Langue:

english

Fichier:

PDF, 95 KB

english, 2006

21

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:

Année:

1997

Langue:

english

Fichier:

PDF, 102 KB

english, 1997

22

Variations of frataxin protein levels in normal individuals

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

Journal:

Neurological Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 211 KB

english, 2011

23

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

Année:

2009

Langue:

english

Fichier:

PDF, 138 KB

english, 2009

24

‘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

Année:

2010

Langue:

english

Fichier:

PDF, 46 KB

english, 2010

25

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

Année:

1998

Langue:

english

Fichier:

PDF, 191 KB

english, 1998

26

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

Année:

1999

Langue:

english

Fichier:

PDF, 78 KB

english, 1999

27

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

Année:

2005

Langue:

english

Fichier:

PDF, 195 KB

english, 2005

28

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

Année:

2010

Langue:

english

Fichier:

PDF, 1.94 MB

english, 2010

29

The spectrum of phenotypes in females with Rett Syndrome

Peter Huppke, Melanie Held, Franco Laccone, Folker Hanefeld

Journal:

Brain and Development

Année:

2003

Langue:

english

Fichier:

PDF, 135 KB

english, 2003

30

Indication for genetic testing: A checklist for Rett syndrome

Peter Huppke, Karola Köhler, Franco Laccone, Folker Hanefeld

Journal:

The Journal of Pediatrics

Année:

2003

Langue:

english

Fichier:

PDF, 133 KB

english, 2003

31

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

Année:

2000

Langue:

english

Fichier:

PDF, 115 KB

english, 2000

32

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

Année:

2013

Langue:

english

Fichier:

PDF, 446 KB

english, 2013

33

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

Année:

2014

Langue:

english

Fichier:

PDF, 186 KB

english, 2014

34

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

Finsterer, Josef, Brandau, Oliver, Stöllberger, Claudia, Wallefeld, William, Laing, Nigel G., Laccone, Franco

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 361 KB

english, 2014

35

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV

Eder, Johanna, Laccone, Franco, Rohrbach, Marianne, Giunta, Cecilia, Aumayr, Klaus, Reichel, Christofer, Trautinger, Franz

Journal:

Experimental Dermatology

Année:

2013

Langue:

english

Fichier:

PDF, 739 KB

english, 2013

36

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

Steinkellner, Hannes, Etzler, Julia, Gogoll, Laura, Neesen, Jürgen, Stifter, Eva, Brandau, Oliver, Laccone, Franco

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2014

37

Activated Immune System in Patients with Huntington's Disease

Leblhuber, Friedrich, Walli, Johannes, Jellinger, Kurt, Tilz, Gernot P, Widner, Bernhard, Laccone, Franco, Fuchs, Dietmar

Journal:

Clinical Chemistry and Laboratory Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 63 KB

english, 1998

38

Detection of Survival Motor Neuron Protein in Buccal Cells Through Electrochemiluminescence-Based Assay

Steinkellner, Hannes, Etzler, Julia, Gmeiner, Bernhard M., Laccone, Franco

Journal:

Assay and Drug Development Technologies

Année:

2015

Langue:

english

Fichier:

PDF, 250 KB

english, 2015

39

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 294 KB

english, 2011

40

Schmerzhafte Knoten

Valero, Teresa, Brandau, Oliver, Laccone, Franco, Radakovic, Sonja

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Année:

2016

Langue:

german

Fichier:

PDF, 2.92 MB

german, 2016

41

Painful nodules

Valero, Teresa, Brandau, Oliver, Laccone, Franco, Radakovic, Sonja

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Année:

2016

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2016

42

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

Schubert, Cornelia, Laccone, Franco

Journal:

International Journal of Molecular Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 513 KB

english, 2006

43

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

Finsterer, Josef, Stöllberger, Claudia, Wollmann, Eva, Dertinger, Susanne, Laccone, Franco

Journal:

Molecular Genetics and Metabolism Reports

Année:

2016

Langue:

english

Fichier:

PDF, 190 KB

english, 2016

44

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

Zech, Michael, Boesch, Sylvia, Maier, Esther M., Borggraefe, Ingo, Vill, Katharina, Laccone, Franco, Pilshofer, Veronika, Ceballos-Baumann, Andres, Alhaddad, Bader, Berutti, Riccardo, Poewe, Werner, H

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2016

45

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

Ertl, Diana-Alexandra, Raimann, Adalbert, Csaicsich, Dagmar, Patsch, Janina M., Laccone, Franco, Haeusler, Gabriele

Journal:

Hormone Research in Paediatrics

Année:

2017

Langue:

english

Fichier:

PDF, 242 KB

english, 2017

46

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB -related skeletal disorders in three fetuses and a 106-year-old exhibit

Rehder, Helga, Laccone, Franco, Kircher, Susanne G., Schild, Ralf L., Rapp, Christiane, Bald, Rainer, Schulze, Bernt, Behunova, Jana, Neesen, Juergen, Schoner, Katharina

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2018

47

Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization

Feichtinger, Michael, Stopp, Tina, Göbl, Christian, Feichtinger, Elisabeth, Vaccari, Enrico, Mädel, Ulrike, Laccone, Franco, Stroh-Weigert, Monika, Hengstschläger, Markus, Feichtinger, Wilfried, Neese

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2015

48

Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization

Feichtinger, Michael, Stopp, Tina, Göbl, Christian, Feichtinger, Elisabeth, Vaccari, Enrico, Mädel, Ulrike, Laccone, Franco, Stroh-Weigert, Monika, Hengstschläger, Markus, Feichtinger, Wilfried, Neese

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 114 KB

english, 2015

49

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Behunova, Jana, Gerykova Bujalkova, Maria, Gras, Gabriel, Taylor, Thomas, Ihm, Ulrike, Kircher, Susanne, Rehder, Helga, Laccone, Franco

Journal:

Molecular Syndromology

Année:

2018

Langue:

english

Fichier:

PDF, 753 KB

english, 2018

50

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

Csillag, Bernhard, Ilencikova, Denisa, Meissl, Manfred, Webersinke, Gerald, Laccone, Franco, Narumi, Satoshi, Haas, Oskar, Duba, Hans-Christoph

Journal:

Pediatric Blood & Cancer

Année:

2018

Langue:

english

Fichier:

PDF, 647 KB

english, 2018