Követés
Dr. Molnár Mária Judit
Dr. Molnár Mária Judit
E-mail megerősítve itt: med.semmelweis-univ.hu
Cím
Hivatkozott rá
Hivatkozott rá
Év
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
GG Kovacs, JR Murrell, S Horvath, L Haraszti, K Majtenyi, MJ Molnar, ...
Movement Disorders 24 (12), 1842-1847, 2009
2412009
Factors influencing the efficacy, longevity, and safety of electroporation-assisted plasmid-based gene transfer into mouse muscles
MJ Molnar, R Gilbert, Y Lu, AB Liu, A Guo, N Larochelle, K Orlopp, ...
Molecular Therapy 10 (3), 447-455, 2004
1812004
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions
H Tyynismaa, E Ylikallio, M Patel, MJ Molnar, RG Haller, A Suomalainen
The American Journal of Human Genetics 85 (2), 290-295, 2009
1422009
Cerebral blood flow and glucose metabolism in mitochondrial disorders
MJ Molnár, A Valikovics, S Molnár, L Trón, P Diószeghy, F Mechler, ...
Neurology 55 (4), 544-548, 2000
942000
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
J Diaz-Manera, PS Kishnani, H Kushlaf, S Ladha, T Mozaffar, V Straub, ...
The Lancet Neurology 20 (12), 1012-1026, 2021
862021
Mitochondrial diseases
MJ Molnar, GG Kovacs
Handbook of clinical neurology 145, 147-155, 2018
752018
Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries
T Zelei, MJ Molnár, M Szegedi, Z Kaló
Orphanet journal of rare diseases 11, 1-11, 2016
732016
MAPT S305I mutation: implications for argyrophilic grain disease
GG Kovacs, A Pittman, T Revesz, C Luk, A Lees, E Kiss, P Tariska, ...
Acta neuropathologica 116, 103-118, 2008
692008
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
672021
Psychiatric symptoms of patients with primary mitochondrial DNA disorders
G Inczedy-Farkas, V Remenyi, A Gal, Z Varga, P Balla, ...
Behavioral and Brain Functions 8, 1-9, 2012
672012
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double …
B Schoser, M Roberts, BJ Byrne, S Sitaraman, H Jiang, P Laforêt, ...
The Lancet Neurology 20 (12), 1027-1037, 2021
622021
MSTO 1 is a cytoplasmic pro‐mitochondrial fusion protein
A Gal, P Balicza, D Weaver, S Naghdi, SK Joseph, P Várnai, T Gyuris, ...
EMBO molecular medicine 9 (7), 967-984, 2017
582017
Peripheral nerve and skeletal muscle involvement in CADASIL
JM Schröder, S Züchner, M Dichgans, Z Nagy, MJ Molnar
Acta neuropathologica 110, 587-599, 2005
532005
Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: real world data from Hungarian patients
L Szabó, A Gergely, R Jakus, A Fogarasi, Z Grosz, MJ Molnár, I Andor, ...
European Journal of Paediatric Neurology 27, 37-42, 2020
522020
Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease
EC Schulte, A Fukumori, B Mollenhauer, H Hor, T Arzberger, R Perneczky, ...
European Journal of Human Genetics 23 (10), 1328-1333, 2015
522015
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion
NÁ Varga, K Pentelényi, P Balicza, A Gézsi, V Reményi, V Hársfalvi, ...
Behavioral and Brain Functions 14, 1-14, 2018
512018
How bioinformatics influences health informatics: usage of biomolecular sequences, expression profiles and automated microscopic image analyses for clinical needs and public health
V Kuznetsov, HK Lee, S Maurer-Stroh, MJ Molnár, S Pongor, ...
Health Information Science and Systems 1, 1-18, 2013
462013
Structural and molecular basis of skeletal muscle diseases
G Karpati, M Molnar
ISN Neuropath Press, 2002
462002
Mitochondrial abnormalities and peripheral neuropathy in inflammatory myopathy, especially inclusion body myositis
JM Schröder, M Molnar
Detection of Mitochondrial Diseases, 277-281, 1997
421997
The European challenges of funding orphan medicinal products
M Szegedi, T Zelei, F Arickx, A Bucsics, E Cohn-Zanchetta, J Fürst, ...
Orphanet journal of rare diseases 13, 1-8, 2018
412018
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Cikkek 1–20