ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function
Demirsoy, S, Martin, S, Motamedi, S, van Veen, S, Holemans, T, Van den Haute, C, Jordanova, A, Baekelandt, V, Vangheluwe, P, Agostinis, P
Published in Human molecular genetics (01.05.2017)
Published in Human molecular genetics (01.05.2017)
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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
Deprez, L, Weckhuysen, S, Holmgren, P, Suls, A, Van Dyck, T, Goossens, D, Del-Favero, J, Jansen, A, Verhaert, K, Lagae, L, Jordanova, A, Van Coster, R, Yendle, S, Berkovic, S F, Scheffer, I, Ceulemans, B, De Jonghe, P
Published in Neurology (28.09.2010)
Published in Neurology (28.09.2010)
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
STEFFEN, Michael Steffen, LEU, Costin, LA NEVE, Angela, CRICHIUTTI, Giovanni, DE KOVEL, Carolien G. F, TRENITE, Dorothée Kasteleijn-Nolst, DE HAAN, Gerrit-Jan, LINDHOUT, Dick, GAUS, Verena, SCHMITZ, Bettina, JANZ, Dieter, WEBER, Yvonne G, RUPPERT, Ann-Kathrin, BECKER, Felicitas, LERCHE, Holger, STEINHOFF, Bernhard J, KLEEFUSS-LIE, Ailing A, KUNZ, Wolfram S, SURGES, Rainer, ELGER, Christian E, MUHLE, Hiltrud, VON SPICZAK, Sarah, OSTERTAG, Philipp, ZARA, Federico, HELBIG, Ingo, STEPHANI, Ulrich, MØLLER, Rikke S, HJALGRIM, Helle, DIBBENS, Leanne M, BELLOWS, Susannah, OLIVER, Karen, MULLEN, Saul, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, STRIANO, Pasquale, EVERETT, Kate V, GARDINER, Mark R, MARINI, Carla, GUERRINI, Renzo, LEHESJOKI, Anna-Elina, SIREN, Auli, ROBBIANO, Angela, CAPOVILLA, Giuseppe, TINUPER, Paolo, GAMBARDELLA, Antonio, BIANCHI, Amedeo
Published in Human molecular genetics (15.12.2012)
Published in Human molecular genetics (15.12.2012)
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Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
Ylikallio, Emil, Pöyhönen, Rosanna, Zimon, Magdalena, De Vriendt, Els, Hilander, Taru, Paetau, Anders, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna
Published in Human molecular genetics (01.08.2013)
Published in Human molecular genetics (01.08.2013)
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Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature
Ivanov, I., Atkinson, D., Litvinenko, I., Angelova, L., Andonova, S., Mumdjiev, H., Pacheva, I., Panova, M., Yordanova, R., Belovejdov, V., Petrova, A., Bosheva, M., Shmilev, T., Savov, A., Jordanova, A.
Published in European journal of paediatric neurology (01.07.2018)
Published in European journal of paediatric neurology (01.07.2018)
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Mutations in SACS cause atypical and late-onset forms of ARSACS
Baets, J, Deconinck, T, Smets, K, Goossens, D, Van den Bergh, P, Dahan, K, Schmedding, E, Santens, P, Rasic, V Milic, Van Damme, P, Robberecht, W, De Meirleir, L, Michielsens, B, Del-Favero, J, Jordanova, A, De Jonghe, P
Published in Neurology (28.09.2010)
Published in Neurology (28.09.2010)
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.
Published in Brain (London, England : 1878) (01.03.2003)
Published in Brain (London, England : 1878) (01.03.2003)
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Interactions of Meibomian gland secretion with polar lipids in Langmuir monolayers
Georgiev, G. As, Kutsarova, E., Jordanova, A., Krastev, R., Lalchev, Z.
Published in Colloids and surfaces, B, Biointerfaces (01.07.2010)
Published in Colloids and surfaces, B, Biointerfaces (01.07.2010)
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
Zimoń, M, Baets, J, Fabrizi, G M, Jaakkola, E, Kabzińska, D, Pilch, J, Schindler, A B, Cornblath, D R, Fischbeck, K H, Auer-Grumbach, M, Guelly, C, Huber, N, De Vriendt, E, Timmerman, V, Suter, U, Hausmanowa-Petrusewicz, I, Niemann, A, Kochański, A, De Jonghe, P, Jordanova, A
Published in Neurology (09.08.2011)
Published in Neurology (09.08.2011)
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Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies
Paketci, C., Karakaya, M., Edem, P., Bayram, E., Keller, N., Daimagüler, H.-S., Cirak, S., Jordanova, A., Hiz, S., Wirth, B., Yiş, U.
Published in Revue neurologique (01.12.2020)
Published in Revue neurologique (01.12.2020)
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Journal Article
Atypical peripheral manifestation of abnormal sphingolipid metabolism
MilicRasic, V, Atkinson, D, Nikodinovic Glumac, J, Jordanova, A
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Experimental Study of Bed Load Transport through Emergent Vegetation
Jordanova, Angelina A, James, C. S
Published in Journal of hydraulic engineering (New York, N.Y.) (01.06.2003)
Published in Journal of hydraulic engineering (New York, N.Y.) (01.06.2003)
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Flow resistance of emergent vegetation
James, C. S., Birkhead, A. L., Jordanova, A. A., O'Sullivan, J. J.
Published in Journal of hydraulic research (01.01.2004)
Published in Journal of hydraulic research (01.01.2004)
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Journal Article
ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function
Demirsoy, S., Martin, S., Motamedi, S., van Veen, S., Holemans, T., Van den Haute, C., Jordanova, A., Baekelandt, V., Vangheluwe, P., Agostinis, P.
Published in Human molecular genetics (01.05.2017)
Published in Human molecular genetics (01.05.2017)
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Journal Article
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene
Suls, A, Velizarova, R, Yordanova, I, Deprez, L, Van Dyck, T, Wauters, J, Guergueltcheva, V, Claes, L R F, Kremensky, I, Jordanova, A, De Jonghe, P
Published in Neurology (06.07.2010)
Published in Neurology (06.07.2010)
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Interaction of methionine–enkephalins with raft-forming lipids: monolayers and BAM experiments
Tsanova, A, Jordanova, A, Dzimbova, T, Pajpanova, T, Golovinsky, E, Lalchev, Z
Published in Amino acids (01.05.2014)
Published in Amino acids (01.05.2014)
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Journal Article
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J J, Suls, A, De Vriendt, E, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P F M, Fürst, D O, Mitev, V, Lochmüller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A
Published in Neurology (13.12.2011)
Published in Neurology (13.12.2011)
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Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1
Ivanov, I, Jordanova, A, Litvinenko, I, Angelova, L, Mumdjiev, H, Pacheva, I, Panova, M, Yordanova, R, Atkinson, D, Belovejdov, V, Andonova, S, Bosheva, M, Shmilev, T, Savov, A
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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