K. Kekou

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Mutation spectrum and phenotypic manifestation in FSHD Greek patients

E. Kanavakis, C. Sofocleous, H. Fryssira, 2012, Neuromuscular Disorders.

Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients

S. Kitsiou‐Tzeli, E. Kararizou, G. Papadimas, 2017, Eye.

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype

R. Pons, A. Dinopoulos, G. Papadimas, 2017, Muscle & nerve.

Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes

G. Chrousos, C. Kanaka-Gantenbein, S. Kitsiou, 2004, Hormone Research in Paediatrics.

SMA prenatal diagnosis: a modified protocol to help differentiation between deletions and gene conversion.

C. Sofocleous, A. Mavrou, H. Fryssira, 2015, Molecular and cellular probes.

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

P. Vorgia, J. Traeger-Synodinos, H. Fryssira, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

P. Vorgia, G. Tsivgoulis, J. Traeger-Synodinos, 2020, Journal of neuromuscular diseases.

Homozygosity of the Z‐2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes

K. Karavanaki, C. Tsentidis, K. Kekou, 2021, Pediatric diabetes.

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

M. Athanasiou, H. Vastardis, K. Kekou, 2022, Children.

PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2009, Reproductive biomedicine online.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Christophe Béroud, Hanns Lochmüller, Petr Brabec, 2015, Human mutation.

Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol

S. Kitsiou, N. Vogiatzakis, A. Mavrou, 2007, Molecular Biotechnology.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

K. Bushby, K. Flanigan, C. Béroud, 2017, Journal of neuromuscular diseases.

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

J. Traeger-Synodinos, C. Sofocleous, H. Fryssira, 2021, American journal of medical genetics. Part A.

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

P. Vorgia, E. Kanavakis, C. Sofocleous, 2016, Molecular and cellular probes.

Caveolinopathies in Greece

S. Kitsiou‐Tzeli, K. Spengos, C. Papadopoulos, 2015, The neurologist.

A Greek National Cross-Sectional Study on Myotonic Dystrophies

V. Kimiskidis, G. Koutsis, M. Panas, 2022, International journal of molecular sciences.

Aldolase A deficiency: Report of new cases and literature review

C. Papadopoulos, S. Xirou, G. Papadimas, 2021, Molecular genetics and metabolism reports.

Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease

L. Stefanis, R. Pons, K. Kekou, 2016, Movement disorders : official journal of the Movement Disorder Society.

The Prevalence of Autonomic and Peripheral Neuropathy in Children and Adolescents with Type 1 Diabetic Mellitus (T1D) and Its Association with the Homozygous Status of Z-2/Z-2 Polymorphism of the Aldose Reductase Gene (AKR1B1) in the Polyol Pathway

C. Kanaka-Gantenbein, K. Karavanaki, C. Tsentidis, 2018 .

Orofacial Manifestations Associated with Muscular Dystrophies: A Review.

K. Kekou, Petros Papaefthymiou, F. Özdemir, 2022, Turkish journal of orthodontics.

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

M. Tzetis, J. Traeger-Synodinos, P. Makrythanasis, 2023, Genes.

A simplified approach for FSHD molecular testing.

T. K. Christopoulos, J. Traeger-Synodinos, E. Kanavakis, 2014, Clinica chimica acta; international journal of clinical chemistry.

A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement

E. Malfatti, A. Anastasakis, C. Papadopoulos, 2021, Muscle & nerve.

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity

M. Tzetis, C. Sofocleous, Danai Veltra, 2023, Expert review of molecular diagnostics.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License the Treat-nmd Dmd Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

K. Bushby, K. Flanigan, C. Béroud, 2022 .

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

P. Vorgia, P. Makrythanasis, C. Sofocleous, 2024, International journal of molecular sciences.