Research/art/teacher profile of a person
Name and surname:
doc. MUDr. Miriam Kolníková, PhD.
Document type:
Research/art/teacher profile of a person
The name of the university:
Comenius University Bratislava
The seat of the university:
Šafárikovo námestie 6, 818 06 Bratislava

I. - Basic information

I.1 - Surname
Kolníková
I.2 - Name
Miriam
I.3 - Degrees
M.D., Ph.D. Assoc. prof., M.D. Ph.D.
I.4 - Year of birth
1964
I.5 - Name of the workplace
Faculty of Medicine Comenius University Bratislava
I.6 - Address of the workplace
Špitálska 24, 813 72 Bratislava
I.7 - Position
Head of Department of Pediatric Neurology
I.8 - E-mail address
miriam.kolnikova@fmed.uniba.sk
I.9 - Hyperlink to the entry of a person in the Register of university staff
https://www.portalvs.sk/regzam/detail/5563
I.10 - Name of the study field in which a person works at the university
Neurology

II. - Higher education and further qualification growth

II.1 - First degree of higher education
II.a - Name of the university or institution
Faculty of Medicine Comenius University Bratislava
II.b - Year
1988
II.c - Study field and programme
General Medicine
II.2 - Second degree of higher education
II.a - Name of the university or institution
Faculty of Medicine Comenius University Bratislava
II.b - Year
1988
II.c - Study field and programme
General Medicine
II.3 - Third degree of higher education
II.a - Name of the university or institution
Faculty of Medicine Comenius University Bratislava
II.b - Year
2014
II.c - Study field and programme
Neurology
II.4 - Associate professor
II.a - Name of the university or institution
Faculty of Medicine Comenius University Bratislava
II.b - Year
2021
II.c - Study field and programme
Neurology
II.5 - Professor
II.6 - Doctor of Science (DrSc.)

III. - Current and previous employment

III.a - Occupation-position III.b - Institution III.c - Duration
Vysokoškolský učiteľ - docent University teacher - assoc. professor Faculty of Medicine Comenius University Bratislava 2021
Vysokoškolský učiteľ - odborný asistent University teacher - assistant professor Faculty of Medicine Comenius University Bratislava 2014 - 2021
Vysokoškolský učiteľ - asistent University teacher - assistant Faculty of Medicine Comenius University Bratislava 2009 - 2014

IV. - Development of pedagogical, professional, language, digital and other skills

IV.a - Activity description, course name, other IV.b - Name of the institution IV.c - Year
Healthcare management and financing Faculty of Medicine Comenius University Bratislava 2017
Certification in the field of pediatrics Slovak Health University Bratislava 1992
Certification in the field of pediatrics Slovak Health University Bratislava 1998

V. - Overview of activities within the teaching career at the university

V.1 - Overview of the profile courses taught in the current academic year according to study programmes
V.1.a - Name of the profile course V.1.b - Study programme V.1.c - Degree V.1.d - Field of study
Peadiatrition Všeobecné lekárstvo General Medicine 2. Degree Všeobecné lekárstvo General Medicine
Pediatrická neurológia Paediatric neurology Pediatrická neurológia Paediatric neurology 2. Degree Detská neurológia Pediatric neurology
V.2 - Overview of the responsibility for the delivery, development and quality assurance of the study programme or its part at the university in the current academic year
V.3 - Overview of the responsibility for the development and quality of the field of habilitation procedure and inaugural procedure in the current academic year
V.4 - Overview of supervised final theses
V.4.1 - Number of currently supervised theses
V.4.a - Bachelor's (first degree)
0
V.4.b - Diploma (second degree)
2
V.4.c - Dissertation (third degree)
2
V.4.2 - Number of defended theses
V.4.a - Bachelor's (first degree)
0
V.4.b - Diploma (second degree)
6
V.4.c - Dissertation (third degree)
0
V.5 - Overview of other courses taught in the current academic year according to study programmes

VI. - Overview of the research/artistic/other outputs

VI.1 - Overview of the research/artistic/other outputs and the corresponding citations
VI.1.1 - Number of the research/artistic/other outputs
VI.1.a - Overall
365
VI.1.2 - Number of the research/artistic/other outputs registered in the Web of Science or Scopus databases
VI.1.3 - Number of citations corresponding to the research/artistic/other outputs
VI.1.a - Overall
344
VI.1.4 - Number of citations registered in the Web of Science or Scopus databases
VI.1.a - Overall
344
VI.1.5 - Number of invited lectures at the international, national level
VI.2 - The most significant research/artistic/other outputs
1

 Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. N Engl J Med. 2024 Feb 1;390(5):421-431.

·         

2

 ID: 648321 | Acetyl-DL-leucine in Niemann-Pick type C: A case series / Bremová, Tatiana [Korešpondenčný autor, 40%] ; Malinová, Věra [Autor, 10%] ; Amraoui, Yasmina [Autor, 10%] ; Mengel, Eugen [Autor, 10%] ; Reinke, Joerg [Autor, 10%] ; Kolníková, Miriam [Autor, 10%] ; Strupp, Michael [Autor, 10%]. – DOI 10.1212/WNL.0000000000002041. – CCC ; SCO ; WOS CC.

In: Neurology [textový dokument (print)] [elektronický dokument] . – Baltimore (USA) : Wolters Kluwer. – ISSN 0028-3878. – ISSN (online) 1526-632X. – Roč. 85, č. 16 (2015), s. 1368-1375 [tlačená forma] [online]

3

  ID: 465250 | Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C / Bremova-Ertl, Tatiana (Korešpondenčný autor) (6.676%) ; Claassen, Jens (Korešpondenčný autor) (6.666%) ; Foltán, Tomáš (Autor) (6.666%) ; Gascón Bayarri, Jordi (Autor) (6.666%) ; Gissen, Paul (Autor) (6.666%) ; Hahn, Andreas (Autor) (6.666%) ; Hassan, Anhar (Autor) (6.666%) ; Henning, Anita (Autor) (6.666%) ; Jones, Simon (Autor) (6.666%) ; Kolníková, Miriam (Autor) (6.666%) ; Martakis, Kyriakos (Autor) (6.666%) ; Raethjen, Jan (Autor) (6.666%) ; Ramaswami, Uma (Autor) (6.666%) ; Sharma, Reena (Autor) (6.666%) ; Schneider, Susanne A. (Autor) (6.666%). – [recenzované]. – DOI 10.1007/s00415-021-10717-0. – SCO ; WOS CC ; CCC.

In: Journal of neurology [textový dokument (print)] [elektronický dokument] . – Heidelberg (Nemecko) : Springer Nature. Springer Medizin. – ISSN 0340-5354. – ISSN (online) 1432-1459. – Roč. 269, č. 3 (2022), s. 1651-1662 [tlačená forma] [online]  

4

ID: 418338 | A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C / Bremova-Ertl, Tatiana (Korešpondenčný autor) (6.25%) ; Abel, Larry (Autor) (6.25%) ; Walterfang, Mark (Autor) (6.25%) ; Salsano, Ettore (Autor) (6.25%) ; Ardissone, Anna (Autor) (6.25%) ; Malinová, Věra (Autor) (6.25%) ; Kolníková, Miriam (Autor) (6.25%) ; Bayarri, Jordi Gascón (Autor) (6.25%) ; Tavasoli, Ali Reza (Autor) (6.25%) ; Ashrafi, Mahnoud Reza (Autor) (6.25%) ; Amraoui, Yasmina (Autor) (6.25%) ; Mengel, Eugen (Autor) (6.25%) ; Kolb, Stefan A. (Autor) (6.25%) ; Brecht, Andreas (Autor) (6.25%) ; Bardins, Statislavs (Autor) (6.25%) ; Strupp, Michael (Autor) (6.25%). – DOI 10.1111/ene.14955. – CCC ; SCO ; WOS CC.

In: European Journal of Neurology [textový dokument (print)] [elektronický dokument] : the official journal of the European Federation of Neurological Societies. – Hoboken (USA) : John Wiley & Sons. – ISSN 1351-5101. – ISSN (online) 1468-1331. – Roč. 28, č. 9 (2021), s. 3040-3050 [tlačená forma] [online]

5

ID: 195140 | A Study among the genotype, functional alternations, and phenotype of 9 SCN1A mutations in epilepsy patients / Klučková, Daniela [Autor, 30%] ; Kolníková, Miriam [Autor, 10%] ; Lacinová, Ľubica [Autor, 10%] ; Jurkovičová Tarabová, Bohumila [Autor, 5%] ; Foltán, Tomáš [Autor, 5%] ; Demko, Viktor [Autor, 5%] ; Kádaši, Ľudevít [Autor, 5%] ; Ficek, Andrej [Autor, 10%] ; Šoltýsová, Andrea [Korešpondenčný autor, 20%]. – [recenzované]. – DOI 10.1038/s41598-020-67215-y. – CCC ; WOS CC ; SCO. Scientific reports [elektronický dokument] . – Londýn (Veľká Británia) : Springer Nature. Nature Publishing Group. – ISSN (online) 2045-2322. – Roč. 10, č. 24 June (2020), Art. no. 10288, s. [1-13] [online]·

VI.3 - The most significant research/artistic/other outputs over the last six years
1

Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. N Engl J Med. 2024 Feb 1;390(5):421-431.

2

  ID: 465250 | Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C / Bremova-Ertl, Tatiana (Korešpondenčný autor) (6.676%) ; Claassen, Jens (Korešpondenčný autor) (6.666%) ; Foltán, Tomáš (Autor) (6.666%) ; Gascón Bayarri, Jordi (Autor) (6.666%) ; Gissen, Paul (Autor) (6.666%) ; Hahn, Andreas (Autor) (6.666%) ; Hassan, Anhar (Autor) (6.666%) ; Henning, Anita (Autor) (6.666%) ; Jones, Simon (Autor) (6.666%) ; Kolníková, Miriam (Autor) (6.666%) ; Martakis, Kyriakos (Autor) (6.666%) ; Raethjen, Jan (Autor) (6.666%) ; Ramaswami, Uma (Autor) (6.666%) ; Sharma, Reena (Autor) (6.666%) ; Schneider, Susanne A. (Autor) (6.666%). – [recenzované]. – DOI 10.1007/s00415-021-10717-0. – SCO ; WOS CC ; CCC.

In: Journal of neurology [textový dokument (print)] [elektronický dokument] . – Heidelberg (Nemecko) : Springer Nature. Springer Medizin. – ISSN 0340-5354. – ISSN (online) 1432-1459. – Roč. 269, č. 3 (2022), s. 1651-1662 [tlačená forma] [online]  

3

ID: 418338 | A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C / Bremova-Ertl, Tatiana (Korešpondenčný autor) (6.25%) ; Abel, Larry (Autor) (6.25%) ; Walterfang, Mark (Autor) (6.25%) ; Salsano, Ettore (Autor) (6.25%) ; Ardissone, Anna (Autor) (6.25%) ; Malinová, Věra (Autor) (6.25%) ; Kolníková, Miriam (Autor) (6.25%) ; Bayarri, Jordi Gascón (Autor) (6.25%) ; Tavasoli, Ali Reza (Autor) (6.25%) ; Ashrafi, Mahnoud Reza (Autor) (6.25%) ; Amraoui, Yasmina (Autor) (6.25%) ; Mengel, Eugen (Autor) (6.25%) ; Kolb, Stefan A. (Autor) (6.25%) ; Brecht, Andreas (Autor) (6.25%) ; Bardins, Statislavs (Autor) (6.25%) ; Strupp, Michael (Autor) (6.25%). – DOI 10.1111/ene.14955. – CCC ; SCO ; WOS CC.

In: European Journal of Neurology [textový dokument (print)] [elektronický dokument] : the official journal of the European Federation of Neurological Societies. – Hoboken (USA) : John Wiley & Sons. – ISSN 1351-5101. – ISSN (online) 1468-1331. – Roč. 28, č. 9 (2021), s. 3040-3050 [tlačená forma] [online]

4

ID: 143686 | Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review / Pineda, Mercedes (Korešpondenčný autor) (14.29%) ; Juríčková, Katarína (Autor) (14.285%) ; Karimzadeh, Parvaneh (Autor) (14.285%) ; Kolníková, Miriam (Autor) (14.285%) ; Malinová, Věra (Autor) (14.285%) ; Torres, Juan (Autor) (14.285%) ; Kolb, Stefan A. (Autor) (14.285%). – DOI 10.1186/s13023-019-1124-3. – WOS CC ; SCO.

In: Orphanet Journal of Rare Diseases [elektronický dokument] . – Londýn (Veľká Británia) : Springer Nature. BioMed Central. – ISSN (online) 1750-1172. – Roč. 14, č. 2. July (2019), Art. No. 161, s. [1-10] [online]

·     

5

    Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, Pietrzykova M, Karhanek M, Noskova L, Tesarova M, Hansikova H, Gasperikova D. ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet J Rare Dis. 2023 Apr 24;18(1):92. 

VI.4 - The most significant citations corresponding to the research/artistic/other outputs
1

ID: 63877 | DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene / Kolníková, Miriam (Autor) (20%) ; Škopková, Martina (Autor) (20%) ; Ilenčíková, Denisa (Autor) (5%) ; Foltán, Tomáš (Autor) (10%) ; Payerová, Jaroslava (Autor) (5%) ; Daniš, Daniel (Autor) (10%) ; Klimeš, Iwar (Autor) (10%) ; Staník, Juraj (Autor) (10%) ; Gašperíková, Daniela (Korešpondenčný autor) (10%). – DOI 10.1016/j.seizure.2018.01.020. – CCC ; SCO ; WOS CC.In: Seizure [textový dokument (print)] [elektronický dokument] . – Londýn (Veľká Británia) : Elsevier. – ISSN 1059-1311. – ISSN (online) 1532-2688. – č. 56 (2018), s. 31-33 [tlačená forma] [online]Verejná poznámka: Miriam Kolníková and Martina Škopková - equally contributed

2

ID: 107570 | Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review / Pineda, Mercedes [Korešpondenčný autor, 30%] ; Juríčková, Katarína [Autor, 10%] ; Karimzadeh, Parvaneh [Autor, 10%] ; Kolníková, Miriam [Autor, 10%] ; Malinová, Věra [Autor, 10%] ; Insua, Jose Luis [Autor, 10%] ; Velten, Christian [Autor, 10%] ; Kolb, Stefan A. [Autor, 10%]. – DOI 10.1186/s13023-019-0996-6. – WOS CC ; SCO.

In: Orphanet Journal of Rare Diseases [elektronický dokument] . – Londýn (Veľká Británia) : Springer Nature. BioMed Central. – ISSN (online) 1750-1172. – Roč. 14, č. 7. February (2019), Art. No. 32, s. [1-10] [online]

3

ID: 195140 | A Study among the genotype, functional alternations, and phenotype of 9 SCN1A mutations in epilepsy patients / Klučková, Daniela [Autor, 30%] ; Kolníková, Miriam [Autor, 10%] ; Lacinová, Ľubica [Autor, 10%] ; Jurkovičová Tarabová, Bohumila [Autor, 5%] ; Foltán, Tomáš [Autor, 5%] ; Demko, Viktor [Autor, 5%] ; Kádaši, Ľudevít [Autor, 5%] ; Ficek, Andrej [Autor, 10%] ; Šoltýsová, Andrea [Korešpondenčný autor, 20%]. – [recenzované]. – DOI 10.1038/s41598-020-67215-y. – CCC ; WOS CC ; SCO.

In: Scientific reports [elektronický dokument] . – Londýn (Veľká Británia) : Springer Nature. Nature Publishing Group. – ISSN (online) 2045-2322. – Roč. 10, č. 24 June (2020), Art. no. 10288, s. [1-13] [online]

4

ID: 107552 | Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene / Kolníková, Miriam [Korešpondenčný autor, 30%] ; Jungová, Petra [Autor, 10%] ; Škopková, Martina [Autor, 30%] ; Foltán, Tomáš [Autor, 10%] ; Gašperíková, Daniela [Autor, 5%] ; Mattošová, Slavomíra [Autor, 10%] ; Chandoga, Ján [Autor, 5%]. – SCO ; CCC ; WOS CC.

In: Journal of Molecular Neuroscience [textový dokument (print)] [elektronický dokument] . – New York (USA) : Humana Press. – ISSN 0895-8696. – ISSN (online) 1559-1166. – Roč. 67, č. 4 (2019), s. 559-563 [tlačená forma] [online]

Verejná poznámka: Miriam Kolníková and Petra Jungová contributed equally to this work

5

ID: 465250 | Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C / Bremova-Ertl, Tatiana (Korešpondenčný autor) (6.676%) ; Claassen, Jens (Korešpondenčný autor) (6.666%) ; Foltán, Tomáš (Autor) (6.666%) ; Gascón Bayarri, Jordi (Autor) (6.666%) ; Gissen, Paul (Autor) (6.666%) ; Hahn, Andreas (Autor) (6.666%) ; Hassan, Anhar (Autor) (6.666%) ; Henning, Anita (Autor) (6.666%) ; Jones, Simon (Autor) (6.666%) ; Kolníková, Miriam (Autor) (6.666%) ; Martakis, Kyriakos (Autor) (6.666%) ; Raethjen, Jan (Autor) (6.666%) ; Ramaswami, Uma (Autor) (6.666%) ; Sharma, Reena (Autor) (6.666%) ; Schneider, Susanne A. (Autor) (6.666%). – [recenzované]. – DOI 10.1007/s00415-021-10717-0. – SCO ; WOS CC ; CCC.

In: Journal of neurology [textový dokument (print)] [elektronický dokument] . – Heidelberg (Nemecko) : Springer Nature. Springer Medizin. – ISSN 0340-5354. – ISSN (online) 1432-1459. – Roč. 269, č. 3 (2022), s. 1651-1662 [tlačená forma] [online]

VI.5 - Participation in conducting (leading) the most important research projects or art projects over the last six years

VII. - Overview of organizational experience related to higher education and research/artistic/other activities

VIII. - Overview of international mobilities and visits oriented on education and research/artistic/other activities in the given field of study

IX. - Other relevant facts