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Časopis Neurology – Článok Registry and molecular diagnostics of myotonic dystrophy in slovakia

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné
Téma: Original Works

Registry and molecular diagnostics of myotonic dystrophy in slovakia

Ján Radvánszky1, Peter Špalek2, Ľudevít Kádaši1,3

Myotonic dystrophy (DM) is genetically determined progressive and degenerative disorder of skeletal muscles. Besides involvement of skeletal muscles, DM may cause eye, heart, endocrine and brain disorders. DM comprises at least two genetically distinct forms. DM1 is caused by an expansion of a CTG repeat in the DMPK gene, while expansion of a CCTG repeat in the ZNF9 (CNBP) gene causes DM2. Strikingly similar phenotypic presentations of both types may be a consequence of common pathogenic mechanisms likely connected to the expansion containing RNA transcripts. On the other hand, the differences between DM1 and DM2 may be a consequence of specific interactions of the CUG and CCUG transcripts, and of locus specific effects of these expansions. Together with the extending knowledge about the pathogenic processes leading to DM, there are also a grooving number of clinical studies aimed to find possible therapeutic approaches. Therefore, molecular methods suitable for the direct identification of the expansions and the establishment of national and international patient registries will play crucial role in the healthcare of the patients with DM in the near future.

myotonic dystrophy, DM1, DM2, DNA analysis, DM register
Neurológia 2013; 8 (1): 33-38

Ročník 2013  Témy časopisu Neurology 1 / 2013

Overview works

David Školoudík1,2, Roman Herzig1, Martin Kuliha1,2
Roman Herzig, Tomáš Dorňák, David Školoudík, Daniel Šaňák
Martin Kuliha1,2, David Školoudík1,2, Martin Roubec2, Eva Hurtíková2, Andrea Goldírová2, Tomáš Jonszta3, Roman Herzig1
Stanislav Šutovský1, Andrej Blaho1, Branislav Kollár1, Pavol Šiarnik1, Adriana Reptová2, Katarína Klobučníková1, Peter Turčáni1

Original Works

Branislav Kollár, Marián Kondáš, Pavel Šiarnik, Lucia Krížová, Zuzana Čarnická, Petra Keményová, Stanislav Šutovský, Katarína Klobučníková
Ján Radvánszky1, Peter Špalek2, Ľudevít Kádaši1,3

Miroslav Brozman
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CHAIRMAN OF THE EDITORIAL BOARD
doc. MUDr. Miroslav Brozman, CSc.

MEMBERS OF THE EDITORIAL BOARD
MUDr. František Cibulčík, CSc.
doc. MUDr. Eleonóra Klímová, CSc.
doc. MUDr. Pavol Kučera, PhD.
MUDr. Marian Kuchar, PhD.
doc. MUDr. Robert Mikulík,Ph.D., FESO
MUDr. Vladimír Nosáľ, PhD.
MUDr. Ľubica Procházková, CSc.
prof. MUDr. Bruno Rudinský, CSc.
doc. MUDr. Daniel Šaňák, Ph.D.
doc. MUDr. David Školoudík, Ph.D., FESO
prof. MUDr. Karel Šonka, DrSc.
doc. MUDr. Peter Špalek, PhD.
Dr. Milan R. Voško, PhD.

EDITOR-IN-CHIEF
Eva Stachová
e-mail: stachova@amedi.sk

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SECTIONS

OVERVIEW PAPERS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy. Maximum size is 7 pages (font size 12, line spacing 1.5) with maximum 6 pictures (graphs). In case of more extensive theme elaboration it is possible to divide the paper to several parts after agreement with editorial office. Write the article with emphasis on its practical usage for neurologists.

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MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
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- - do not do page make-up, put tables at the end of the paper
- distinguish precisely numbers 1, 0 and letters l, O
- use always parentheses ( )
- explain abbreviations always when first used


MANUSCRIPT REQUIREMENTS

1. An accurate paper title, names and surnames of all authors including titles, authors` workplace. The first author address including the phone number, fax and e-mail address.
2. Summary - concise content summary in the extent maximum 10 lines (only at overview papers, case studies and Appendices - General Medicine). Write in 1st or 3rd person singular or plural (unify according the type of an article).
3. Key words - in the extent of 3-6 (only for overview papers and Appendices - General Medicine).
4. English translation: paper title, summary, key words (only at overview papers, and Appendices - General Medicine)
5. Text
If you insert pictures into a document, send also their original files in "jpg" format, create graphs in Excel and send also their original files. If you send photo documentation via post office, please, send just high-class originals. Mark each original by a number, under which it is mentioned in the text. Write in 1st or 3rd person singular or plural (unify according the type of an article).
6. Bibliography
Citations are numbered chronologically in bold, references in the text are stated by the number of citations in parentheses. Use maximum 20 citations.

Examples of citations:
1. Pitt B, et al. The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N Engl J Med 1999; 341: 709-717.
2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
5. Osborne BE. The electrocardiogram of the rat. In: Budden R, Detweiler DK, Zbinden G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Pergamon Press 1981: 15-27.

Do not use dots after first names in citations. Do not use colon but dot after names of authors. Use semi-colon after the year of publishing, colon is before pages. If an author is one, two or three - it is necessary to state all. If there are more than three authors it is necessary to write first three and "et all".

Due to publishing of autodidactic tests it is necessary to add 4 questions to your article and 4 answers with marking of one correct answer, e.g.:

Which of following factors is not related to rosacea?
a. genetic predisposition
b. Scandinavian origin
c. propionibacterium acnes
d. endothelial growth factor

The editorial board reserves the right to make small stylistic changes in the paper. If it is necessary to shorten the paper, the consent of the author will be required. All articles are reviewed.

All published papers are paid.

Due to practical focus of the journal we would like to ask you to write the paper comprehensively, with emphasis on practical use of provided information in out-patient neurological practice.

Send contributions in the e-mail to the address: stachova@amedi.sk
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné