Works matching AU Laccone, Franco

Results: 76

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

Published in:

2011

By:

Rademacher, Nils;
Hambrock, Melanie;
Fischer, Ute;
Moser, Bettina;
Ceulemans, Berten;
Lieb, Wolfgang;
Boor, Rainer;
Stefanova, Irina;
Gillessen-Kaesbach, Gabriele;
Runge, Charlotte;
Korenke, Georg;
Spranger, Stefanie;
Laccone, Franco;
Tzschach, Andreas;
Kalscheuer, Vera

Publication type:

Letter

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 27, doi. 10.1007/s10048-005-0023-z

By:

Metzger, Silke;
Bauer, Peter;
Tomiuk, Juergen;
Laccone, Franco;
Didonato, Stefano;
Gellera, Cinzia;
Soliveri, Paola;
Lange, Herwig;
Weirich-Schwaiger, Helga;
Wenning, Gregor;
Melegh, Bela;
Havasi, Victoria;
Balikó, Lazlo;
Wieczorek, Stefan;
Arning, Larissa;
Zaremba, Jacek;
Sulek, Anna;
Hoffman-Zacharska, Dorota;
Basak, A.;
Ersoy, Nagehan

Publication type:

Article

Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1261, doi. 10.1007/s10815-024-03108-7

By:

Madritsch, Silvia;
Arnold, Vivienne;
Haider, Martha;
Bosenge, Julia;
Pfeifer, Mateja;
Weil, Beatrix;
Zechmeister, Manuela;
Hengstschläger, Markus;
Neesen, Jürgen;
Laccone, Franco

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 368, doi. 10.1002/humu.20011

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 395, doi. 10.1002/humu.20042

By:

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

Publication type:

Article

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (Communicated by Haig H. Kazazian).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 234, doi. 10.1002/humu.20004

By:

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

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Communicated by Jurgen Horst) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger-Miltenyi;
Franco Laccone

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG?binding protein MECP2Communicated by Jurgen HorstThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger?Miltenyi;
Franco Laccone

Publication type:

Article

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 98, doi. 10.1002/humu.9098

By:

Zoll, Barbara;
Petersen, Lars;
Lange, Katrin;
Gabriel, Peter;
Kiese-Himmel, Christiane;
Rausch, Peter;
Berger, Joachim;
Pasche, Bastian;
Meins, Moritz;
Gross, Manfred;
Berger, Roswitha;
Kruse, Eberhard;
Kunz, Jürgen;
Sperling, Karl;
Laccone, Franco

Publication type:

Article

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease.

Published in:

Life (2075-1729), 2022, v. 12, n. 8, p. 1223, doi. 10.3390/life12081223

By:

Springer, Stephanie;
Karner, Eva;
Worda, Christof;
Grabner, Maria Magdalena;
Seidl-Mlczoch, Elisabeth;
Laccone, Franco;
Neesen, Jürgen;
Scharrer, Anke;
Ulm, Barbara

Publication type:

Article

RNA Sequencing and Weighted Gene Co-Expression Network Analysis Highlight DNA Replication and Key Genes in Nucleolin-Depleted Hepatoblastoma Cells.

Published in:

Genes, 2024, v. 15, n. 12, p. 1514, doi. 10.3390/genes15121514

By:

Steinkellner, Hannes;
Madritsch, Silvia;
Kluge, Mara;
Seipel, Teresa;
Sarne, Victoria;
Huber, Anna;
Schosserer, Markus;
Oberle, Raimund;
Neuhaus, Winfried;
Beribisky, Alexander V.;
Laccone, Franco

Publication type:

Article

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Published in:

Genes, 2023, v. 14, n. 4, p. 877, doi. 10.3390/genes14040877

By:

Vodopiutz, Julia;
Steurer, Lisa-Maria;
Haufler, Florentina;
Laccone, Franco;
Garczarczyk-Asim, Dorota;
Hilkenmeier, Matthias;
Steinbauer, Philipp;
Janecke, Andreas R.

Publication type:

Article

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Published in:

Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154

By:

Nagy, Dóra;
Verheyen, Sarah;
Wigby, Kristen M.;
Borovikov, Artem;
Sharkov, Artem;
Slegesky, Valerie;
Larson, Austin;
Fagerberg, Christina;
Brasch-Andersen, Charlotte;
Kibæk, Maria;
Bader, Ingrid;
Hernan, Rebecca;
High, Frances A.;
Chung, Wendy K.;
Schieving, Jolanda H.;
Behunova, Jana;
Smogavec, Mateja;
Laccone, Franco;
Witsch-Baumgartner, Martina;
Zobel, Joachim

Publication type:

Article

Optical Genome Mapping in Routine Human Genetic Diagnostics—Its Advantages and Limitations.

Published in:

Genes, 2021, v. 12, n. 12, p. 1958, doi. 10.3390/genes12121958

By:

Dremsek, Paul;
Schwarz, Thomas;
Weil, Beatrix;
Malashka, Alina;
Laccone, Franco;
Neesen, Jürgen

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 921, doi. 10.1038/sj.ejhg.5201429

By:

Borg, Isabella;
Freude, Kristine;
Kübart, Sabine;
Hoffmann, Kirsten;
Menzel, Corinna;
Laccone, Franco;
Firth, Helen;
Ferguson-Smith, Malcolm A.;
Tommerup, Niels;
Ropers, Hans-Hilger;
Sargan, David;
Kalscheuer, Vera M.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 217, doi. 10.1038/sj.ejhg.5200252

By:

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

Publication type:

Article

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

Published in:

2019

By:

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

Publication type:

journal article

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

Published in:

Brain Pathology, 1998, v. 8, n. 4, p. 669, doi. 10.1111/j.1750-3639.1998.tb00193.x

By:

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

Publication type:

Article

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

Published in:

Journal of Neurology, 2001, v. 248, n. 4, p. 311, doi. 10.1007/s004150170206

By:

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

Publication type:

Article

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

Published in:

Movement Disorders, 2003, v. 18, n. 2, p. 222, doi. 10.1002/mds.10192

By:

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

Publication type:

Article

Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement.

Published in:

2022

By:

Pees, Christiane;
Zimpfer, Daniel;
Radakovic, Sonja;
Beitzke, Dietrich;
Michel‐Behnke, Ina;
Laccone, Franco A.

Publication type:

Case Study

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

Published in:

Clinical Case Reports, 2019, v. 7, n. 8, p. 1522, doi. 10.1002/ccr3.2213

By:

Soler‐Cardona, Ana;
Brandau, Oliver;
Laccone, Franco;
Tanew, Adrian;
Radakovic, Sonja

Publication type:

Article

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report.

Published in:

Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1211858

By:

Ponleitner, Markus;
Allmer, Daniela Maria;
Hecking, Manfred;
Gatterer, Constantin;
Graf, Senta;
Smogavec, Mateja;
Laccone, Franco;
Rommer, Paulus Stefan;
Sunder-Plassmann, Gere

Publication type:

Article

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

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133334

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128317

By:

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

Publication type:

Article

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125861

By:

Schiessl-Weyer, Jasmin;
Roa, Pedro;
Laccone, Franco;
Kluge, Britta;
Tichy, Alexander;
De Almeida Ribeiro, Euripedes;
Prohaska, Rainer;
Stoeter, Peter;
Siegl, Claudia;
Salzer, Ulrich

Publication type:

Article

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

Published in:

2019

By:

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

Publication type:

journal article

'Relabelling the preserved speech variant of Rett syndrome?'.

Published in:

2010

By:

Marschik PB;
Einspieler C;
Prechtl HF;
Oberle A;
Laccone F;
Marschik, Peter B;
Einspieler, Christa;
Prechtl, Heinz F R;
Oberle, Andreas;
Laccone, Franco

Publication type:

Letter

‘Relabelling the preserved speech variant of Rett syndrome?’.

Published in:

2010

By:

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

Publication type:

Letter

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

Published in:

Assay & Drug Development Technologies, 2015, v. 13, n. 3, p. 167, doi. 10.1089/adt.2015.635

By:

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

Publication type:

Article

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

Published in:

Cardiology, 2015, v. 130, n. 1, p. 48, doi. 10.1159/000368222

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1559, doi. 10.1002/ajmg.a.38828

By:

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

Publication type:

Article

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02617-5

By:

Rehder, Helga;
Kircher, Susanne G.;
Schoner, Katharina;
Smogavec, Mateja;
Behunova, Jana;
Ihm, Ulrike;
Plassmann, Margit;
Hofer, Manuel;
Ringl, Helmut;
Laccone, Franco

Publication type:

Article

Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants.

Published in:

Protein Journal, 2022, v. 41, n. 2, p. 345, doi. 10.1007/s10930-022-10054-9

By:

Beribisky, Alexander V.;
Steinkellner, Hannes;
Geislberger, Sofia;
Huber, Anna;
Sarne, Victoria;
Christodoulou, John;
Laccone, Franco

Publication type:

Article

Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer.

Published in:

World Journal of Urology, 2023, v. 41, n. 8, p. 2091, doi. 10.1007/s00345-023-04535-4

By:

Rebhan, Katharina;
Stelzer, Philipp D.;
Pradere, Benjamin;
Rajwa, Pawel;
Kramer, Gero;
Hofmann, Bernd;
Resch, Irene;
Yurdakul, Ozan;
Laccone, Franco A.;
Bujalkova, Maria Gerykova;
Smogavec, Mateja;
Tan, Yen Y.;
Ristl, Robin;
Shariat, Shahrokh F.;
Egger, Gerda;
Hassler, Melanie R.

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 285, doi. 10.1007/s00439-006-0221-2

By:

Metzger, Silke;
Bauer, Peter;
Tomiuk, Jürgen;
Laccone, Franco;
DiDonato, Stefano;
Gellera, Cinzia;
Mariotti, Caterina;
Lange, Herwig;
Weirich-Schwaiger, Helga;
Wenning, Gregor;
Seppi, Klaus;
Melegh, Bela;
Havasi, Viktoria;
Balikó, Laszlo;
Wieczorek, Stefan;
Zaremba, Jacek;
Hoffman-Zacharska, Dorota;
Sulek, Anna;
Basak, A.;
Soydan, Esra

Publication type:

Article

SCA6 is Caused by Moderate CAG Expansion in the α1A-Voltage-Dependent Calcium Channel Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1289, doi. 10.1093/hmg/6.8.1289

By:

Riess, Olaf;
Schöls, Ludger;
Böttger, Heike;
Nolte, Dagmar;
Vieira-Saecker, Ana Maria Menezes;
Schimming, Carmen;
Kreuz, Friedmar;
Macek, Milan;
Krebsová, Alice;
Sen, Milan Macek;
Klockgether, Thomas;
Zühlke, Christine;
Laccone, Franco A.

Publication type:

Article

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0530-z

By:

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

Publication type:

Article

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

Published in:

Annals of Neurology, 2002, v. 51, n. 5, p. 662, doi. 10.1002/ana.10184

By:

Bauer, Ingrid;
Gencik, Martin;
Laccone, Franco;
Peters, Hartmut;
Weber, Bernhard H. F.;
Feder, Elke Holinski;
Weirich, Helga;
Morris-Rosendahl, Deborah J.;
Rolfs, Arndt;
Gencikova, Alexandra;
Bauer, Peter;
Wenning, Gregor K.;
Epplen, Jörg T.;
Holmes, Susan E.;
Margolis, Russell L.;
Ross, Christopher A.;
Riess, Olaf

Publication type:

Article

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

Published in:

2002

By:

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

Publication type:

journal article

Okihiro syndrome is caused by SALL4 mutations.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2979, doi. 10.1093/hmg/11.23.2979

By:

Kohlhase, Jürgen;
Heinrich, Marielle;
Schubert, Lucia;
Liebers, Manuela;
Kispert, Andreas;
Laccone, Franco;
Turnpenny, Peter;
Winter, Robin M.;
Reardon, William

Publication type:

Article

Activated Immune System in Patients with Huntington's Disease.

Published in:

Clinical Chemistry & Laboratory Medicine, 1998, v. 36, n. 10, p. 747

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1186, doi. 10.1038/ejhg.2014.264

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101

By:

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

Publication type:

Article

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Published in:

Frontiers in Cellular Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fncel.2020.585669

By:

Parzefall, Thomas;
Frohne, Alexandra;
Koenighofer, Martin;
Neesen, Juergen;
Laccone, Franco;
Eckl-Dorna, Julia;
Waters, Jonathan J.;
Schreiner, Markus;
Amr, Sami Samir;
Ashton, Emma;
Schoefer, Christian;
Gstœttner, Wolfgang;
Frei, Klemens;
Lucas, Trevor

Publication type:

Article

Schmerzhafte Knoten.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2016, v. 14, n. 6, p. 627, doi. 10.1111/ddg.12923_g

By:

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

Publication type:

Article

Painful nodules.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2016, v. 14, n. 6, p. 627, doi. 10.1111/ddg.12923

By:

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

Publication type:

Article

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.

Published in:

Journal of Molecular Medicine, 2001, v. 78, n. 11, p. 626, doi. 10.1007/s001090000162

By:

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

Publication type:

Article

Progression to kidney failure in ADPKD: the PROPKD score underestimates the risk assessed by the Mayo imaging classification.

Published in:

Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1470309

By:

Allmer, Daniela Maria;
Parada Rodriguez, Diego;
Aigner, Christof;
Laccone, Franco;
Nagel, Mato;
Metz-Schimmerl, Sylvia;
Sunder-Plassmann, Gere

Publication type:

Article