Close 

Organisation | Principal Investigator | Bank activity | Key publications

.:: Organisation

Fodor Jozsef National Institute of Environmental Health (NIEH)

Department of Molecular Genetics and Diagnostics
Gyali ut 2-6.
1097 Budapest
Hungary


 


Go to EURORDIS web site

.:: Principal Investigator

Top Page

Veronika Karcagi, PhD.

E-Mail: karcagi.veronika@oki.antsz.hu
Phone: + 36-1-4761362
Fax : + 36-1-2150148





Go to EURORDIS web site
Top Page

.:: Bank activity

The National Institute of Environmental Health (NIEH) is the core scientific research basis of environmental health and the methodological center of those health disciplines for the National Public Health and the State Medical Officer Service in Hungary.The Department of Molecular Genetics and Diagnostics was established in 1993 and is the only centre in Hungary performing diagnostic activities in neuromuscular diseases, such as Spinal Muscular Atrophy, several forms of muscular dystrophies, hereditary neuropathies, congenital myasthenic syndromes, as well as some mitochondrial disorders.

Thus, the laboratory serves as a diagnostic reference centre for neuromuscular diseases in Hungary .The department maintains a DNA biobank and a database of clinical and genetic data of 3902 patients and family members with identified, or yet unidentified mutations.

 

Top Page

.:: Key publications

• Pikó H, Vancsó V, Nagy B, Bán Z, Herczegfalvi A, Karcagi V. Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives. Neuromuscul Disord. 2009 Feb;19(2):108-12. Epub 2008 Dec 11.

• Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Äärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, and Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain, 130:1497-506, 2007

• Müller JS, Pikó H, Schoser B, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter M.C. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. Neuromuscular Disorders, 16:432-436, 2006

• Hudson G, Keers S, Yu Wai Man P, Griffiths P, Huoponen K, Savontaus M-L, Nikoskelainen E, Zeviani M, Carrara F, Horváth R, Karcagi V, Spruijt L, de Coo I. F. M., Smeets H and Chinnery PF. Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder. Am. J. Hum. Genet. 77(6):1086-91. 2005



Top Page

Close