F. Laccone

T. Parzefall, F. Laccone, K. Frei, 2021, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

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

J. Patsch, D. Ertl, G. Haeusler, 2016, Hormone Research in Paediatrics.

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

P. Dremsek, F. Laccone, J. Neesen, 2021, Genes.

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

P. Bauer, P. Ribai, M. Pandolfo, 2006, Neurogenetics.

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

M. Hannibal, H. Rehder, W. Grisold, 2008, Clinical genetics.

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

F. Laccone, R. Maiwald, S. Bingemann, 2002, Methods in molecular biology.

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

M Skalej, T Klockgether, M. Skalej, 1996, Brain : a journal of neurology.

Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.

M Skalej, A R Luft, T Klockgether, 1998, Brain : a journal of neurology.

The natural history of degenerative ataxia: a retrospective study in 466 patients.

T Klockgether, J. Dichgans, Í. Lopes-Cendes, 1998, Brain : a journal of neurology.

Repeat length and disease progression in spinocerebellar ataxia type 3

T. Klockgether, R. Lüdtke, L. Schöls, 1996, The Lancet.

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

T. Liehr, M. Shoukier, P. Burfeind, 2010, Clinical genetics.

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

P. Huppke, D. Ravine, R. Morgan, 2004 .

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

H. Duba, Mateja Smogavec, F. Laccone, 2022, European journal of human genetics : EJHG.

Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants

J. Christodoulou, A. Huber, F. Laccone, 2022, The Protein Journal.

TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome.

A. Mildner, M. Prinz, J. Christodoulou, 2022, International journal of biological macromolecules.

An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants

J. Christodoulou, J. Etzler, Katrin Rose, 2019, Scientific Reports.

MeCP2270 Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus

J. Arunachalam, H. Agbemenyah, F. Laccone, 2010, Cytogenetic and Genome Research.

Very mild cases of Rett syndrome with skewed X inactivation

P. Huppke, A. Warnke, J. Gärtner, 2006, Journal of Medical Genetics.

COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case report

H. Prosch, D. Aletaha, K. Hoetzenecker, 2022, BMC Rheumatology.

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

W. Lieb, B. Ceulemans, V. Kalscheuer, 2011, neurogenetics.

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

J. Finsterer, N. Laing, C. Stöllberger, 2014, International journal of cardiology.

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

J. Finsterer, C. Stöllberger, F. Laccone, 2016, Molecular genetics and metabolism reports.

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.

P. Huppke, F. Hanefeld, W. Engel, 2002, Neuropediatrics.

Noncompaction and the novel variant c.425A>T in TPM1

J. Finsterer, C. Stöllberger, F. Laccone, 2021, Acta cardiologica.

Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy

G. Kasprian, F. Laccone, T. Reischer, 2021, Clinics and practice.

Abstracts from the 20th International Symposium on Signal Transduction at the Blood-Brain Barriers

E. S. Graham, J. Garcia-Fernández, M. Lauritzen, 2017, Fluids and Barriers of the CNS.

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

J. Etzler, B. Gmeiner, H. Steinkellner, 2015, Assay and drug development technologies.

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

J. Finsterer, S. Wakil, F. Laccone, 2019, Journal of Clinical Neuroscience.

No evidence for imprinting in distal 18q

J. Overhauser, F. Laccone, R. Maiwald, 2000, Journal of medical genetics.

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

J. Finsterer, F. Laccone, 2019, Metabolic Brain Disease.

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

G. Webersinke, O. Haas, D. Ilencikova, 2019, Pediatric blood & cancer.

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

F. Laccone, C. Schubert, 2006, International journal of molecular medicine.

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

J. Finsterer, N. Laing, C. Stöllberger, 2014, Neuromuscular Disorders.

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.

T. Klockgether, O. Riess, M. Macek, 1997, Human molecular genetics.

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

P. Huppke, F. Hanefeld, W. Engel, 2001, American journal of human genetics.

‘Relabelling the preserved speech variant of Rett syndrome?’

P. Marschik, C. Einspieler, H. Prechtl, 2010, Developmental medicine and child neurology.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

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

H. Ehrenreich, J. Arunachalam, R. Mollajew, 2013, The American journal of pathology.

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome

W. Girsch, R. Ganger, P. Roschger, 2021, Calcified Tissue International.

Delayed Diagnosis of an Attenuated form of Mucopolysaccharidosis Type VI ( Maroteaux-Lamy Syndrome ) via MRI of the Cervical Spinal Cord

J. Rosigkeit, F. Laccone, S. Kircher, 2017 .

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

P. Bauer, O. Riess, A. Rolfs, 2004, Journal of Medical Genetics.

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

J. Dichgans, T. Klockgether, A. Brice, 1999, Journal of Neurology.

Saccade velocity in idiopathic and autosomal dominant cerebellar ataxia.

M. Skalej, J. Dichgans, T. Klockgether, 1997, Journal of neurology, neurosurgery, and psychiatry.

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

M. Dichgans, T. Klockgether, G. Stevanin, 1999, Neurology.

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

Thomas Liehr, T. Liehr, A. Kuechler, 2004, Human mutation.

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

H. Firth, N. Tommerup, M. Ferguson-Smith, 2005, European Journal of Human Genetics.

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss

W. Gstoettner, D. Liu, T. Parzefall, 2021, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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

R. Schild, H. Rehder, F. Laccone, 2018, American journal of medical genetics. Part A.

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

W. Poewe, T. Strom, B. Haslinger, 2016, American journal of human genetics.

A new COL3A1 mutation in Ehlers–Danlos syndrome type IV

F. Trautinger, C. Giunta, M. Rohrbach, 2013, Experimental dermatology.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Victoria E. Jackson, I. Scheffer, T. Strom, 2019, Genetics in Medicine.

Linkage Disequilibrium and Haplotype Analysis in German Friedreich Ataxia Families

B. Müller-Myhsok, S. Purmann, C. Zühlke, 1999, Human Heredity.

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

W. Feichtinger, M. Hengstschläger, C. Göbl, 2015, PloS one.

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

W. Feichtinger, M. Hengstschläger, C. Göbl, 2015, PloS one.

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

G. Kasprian, A. Dressler, M. Feucht, 2016, Orphanet Journal of Rare Diseases.

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

P. Burfeind, S. Schweyer, A. Herr, 2009, Oncogene.

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

T. Klockgether, O. Riess, J. Epplen, 1998, Brain pathology.

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

P. Huppke, F. Hanefeld, W. Engel, 2000, Human molecular genetics.

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

P. Huppke, D. Ravine, R. Morgan, 2004, Human mutation.

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

H. Rehder, F. Laccone, G. Gras, 2018, Molecular Syndromology.

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

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

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

A. Scharrer, E. Seidl-Mlczoch, B. Ulm, 2022, Life.

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

S. Nemec, K. Schmetterer, W. Pickl, 2022, Human Genetics.

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

M. Allen, U. Unterberger, T. Parzefall, 2019, Clinical and experimental otorhinolaryngology.

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

G. Miltenberger-Miltenyi, F. Laccone, 2003, Human mutation.

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

J. Etzler, H. Steinkellner, Laura Gogoll, 2014, European Journal of Human Genetics.

DNA analysis of Huntington’s disease

O. Riess, C. Zühlke, G. von Beust, 1999, Neurology.

An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants

J. Christodoulou, J. Etzler, Katrin Rose, 2019, Scientific Reports.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution

P. Huppke, F. Hanefeld, B. Zoll, 2002, Journal of medical genetics.

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

D. Zimpfer, I. Michel-Behnke, D. Beitzke, 2022, Clinical case reports.

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

H. Rehder, J. Zschocke, R. Schmitz, 2019, Birth defects research.

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

S. Amr, J. Waters, E. Ashton, 2020, Frontiers in Cellular Neuroscience.

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

J. Finsterer, H. Rehder, C. Stöllberger, 2014, Cardiology.

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

P. Huppke, F. Hanefeld, F. Laccone, 2001, Human mutation.

Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene

J. Finsterer, S. Wakil, F. Laccone, 2017, Annals of Indian Academy of Neurology.

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

W. Chung, Kristen Wigby, C. Fagerberg, 2022, Genes.

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

H. Rehder, H. Ringl, Mateja Smogavec, 2023, Orphanet Journal of Rare Diseases.

Indication for genetic testing: a checklist for Rett syndrome.

P. Huppke, F. Hanefeld, K. Köhler, 2003, The Journal of pediatrics.

inactivationmild cases of Rett syndrome with skewed X

P. Huppke, A. Warnke, J. Gärtner, 2007 .

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

P. Huppke, J. Gärtner, A. Ohlenbusch, 2005, American journal of medical genetics. Part A.

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

J. Finsterer, F. Laccone, 2020, The American journal of case reports.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

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

L. Schöls, R. Dietz, K. Osterziel, 2001, Journal of Molecular Medicine.

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

S. Nampoothiri, E. Steichen‐Gersdorf, F. Laccone, 2019, Orphanet Journal of Rare Diseases.

THE SPECTRUM OF INTERNAL LIMITING MEMBRANE DISEASE IN ALPORT SYNDROME

U. Schmidt-Erfurth, C. Ghossein, M. V. Cicinelli, 2021, Retina.

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

F. Zimprich, W. Löscher, S. Wortmann, 2022, Journal of Neurology.

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

M. Losekoot, R. Elles, B. Bakker, 1999, European Journal of Human Genetics.

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2

Willibald Gerschlager, W. Pirker, F. Alesch, 2003, Movement disorders : official journal of the Movement Disorder Society.

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

K. Lindenberg, L. Schöls, O. Riess, 2002, Annals of neurology.

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

K. Lange, K. Sperling, B. Zoll, 2003, Human mutation.

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

A. Palotie, M. Kurki, M. Hallman, 2023, Frontiers in Neuroscience.

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

A. Janecke, J. Vodopiutz, F. Laccone, 2023, Genes.

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

H. Rehder, J. Zschocke, F. Laccone, 2011, European Journal of Human Genetics.

Fetal alcohol syndrome in association with Rett syndrome.

P. Huppke, A. Wessel, B. Zoll, 2004, Genetic Counseling.

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome

S. Szelinger, W. Dreschler, K. Devriendt, 2018, American Journal of Medical Genetics Part A.

Smokeless Tobacco Use and the Risk of Parkinson's Disease Mortality

P. Shashidharan, R. Myers, D. Kiely, 2005 .

Activated Immune System in Patients with Huntington's Disease

F. Leblhuber, G. Tilz, B. Widner, 1998, Clinical chemistry and laboratory medicine.

A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters.

F. Laccone, W. Christian, 2000, American journal of human genetics.

Variations of frataxin protein levels in normal individuals

B. Scheiber-Mojdehkar, H. Goldenberg, F. Laccone, 2011, Neurological Sciences.

S. Stoecklein, D. Prayer, G. Gruber, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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

M. Koenig, M. Cossée, E. Schwinger, 1998, Human Genetics.

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.

P. Huppke, F. Hanefeld, F. Laccone, 2002, Neuropediatrics.

Altered Methylation Pattern of the G6 PD Promoter in Rett Syndrome

S. Bohlander, P. Huppke, F. Hanefeld, 2002, Neuropediatrics.

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

S. Graf, M. Hecking, G. Sunder-Plassmann, 2023, Frontiers in Genetics.

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

S. Shariat, G. Kramer, G. Egger, 2023, World Journal of Urology.

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

J. Finsterer, C. Stöllberger, F. Laccone, 2020, Journal of Neurosciences in Rural Practice.

DNA analysis of Huntington’s disease

G. Schluter, C. Zühlke, D. Morris-Rosendahl, 1999, Neurology.

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

C. Ross, P. Bauer, R. Margolis, 2002, Annals of neurology.

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

J. Reiss, P. Seeman, F. Laccone, 1995, Human mutation.

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.

J. Christodoulou, H. Steinkellner, B. Scheiber-Mojdehkar, 2020, Journal of Visualized Experiments.

Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation

S. Stoecklein, D. Prayer, G. Gruber, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome

P. Herkenrath, F. Laccone, R. Maiwald, 2002, Neurogenetics.

Painful nodules

F. Laccone, O. Brandau, S. Radakovic, 2016, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses

W. Pickl, P. Waidhofer-Söllner, Mateja Smogavec, 2023, International Archives of Allergy and Immunology.

Abstracts from the 20th International Symposium on Signal Transduction at the Blood-Brain Barriers

E. S. Graham, J. Garcia-Fernández, M. Lauritzen, 2017, Fluids and Barriers of the CNS.

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

H. Rehder, J. Zschocke, F. Laccone, 2011, European Journal of Human Genetics.

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

P. Bauer, M. Pandolfo, H. Lange, 2006, Human Genetics.