A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Liposomal Curcumin is Better than Curcumin to Alleviate Complications in Experimental Diabetic Mellitus
Bulboacă, Adriana Elena, Porfire, Alina S, Tefas, Lucia R, Boarescu, Paul Mihai, Bolboacă, Sorana D, Stănescu, Ioana C, Bulboacă, Angelo Corneliu, Dogaru, Gabriela
Published in Molecules (Basel, Switzerland) (27.02.2019)
Published in Molecules (Basel, Switzerland) (27.02.2019)
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The effect of intravenous administration of liposomal curcumin in addition to sumatriptan treatment in an experimental migraine model in rats
Bulboacă, Adriana E, Bolboacă, Sorana D, Stănescu, Ioana C, Sfrângeu, Carmen A, Porfire, Alina, Tefas, Lucia, Bulboacă, Angelo C
Published in International journal of nanomedicine (01.01.2018)
Published in International journal of nanomedicine (01.01.2018)
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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
Reichold, Markus, Klootwijk, Enriko D, Reinders, Joerg, Otto, Edgar A, Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J, Dettmer, Katja, Simbuerger, Johann M, Witzgall, Ralph, Stanescu, Horia C, Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B, Gale, Daniel P, Howie, Alexander J, Martins, Joana R, Hall, Andrew M, Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R, Atwal, Paldeep S, Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N, Pugh, Christopher, Konecki, David S, Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta, Gahl, William A, Unwin, Robert J, Warth, Richard, Kleta, Robert
Published in Journal of the American Society of Nephrology (01.07.2018)
Published in Journal of the American Society of Nephrology (01.07.2018)
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
Sumner, Charlotte J, Landouré, Guida, Zdebik, Anselm A, Martinez, Tara L, Burnett, Barrington G, Stanescu, Horia C, Inada, Hitoshi, Shi, Yijun, Taye, Addis A, Kong, Lingling, Munns, Clare H, Choo, Shelly S, Phelps, Christopher B, Paudel, Reema, Houlden, Henry, Ludlow, Christy L, Caterina, Michael J, Gaudet, Rachelle, Kleta, Robert, Fischbeck, Kenneth H
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings
Zdebik, Anselm A, Mahmood, Fahad, Stanescu, Horia C, Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Published in PloS one (14.11.2013)
Published in PloS one (14.11.2013)
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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
Klootwijk, Enriko D, Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven L, Reinders, Joerg, Peindl, Dominika, Renner, Kathrin, Eberhart, Karin, Assmann, Nadine, Oefner, Peter J, Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W, Stanescu, Horia C, Bockenhauer, Detlef, Jaureguiberry, Graciana, Courtneidge, Holly, Hall, Andrew M, Wijeyesekera, Anisha D, Holmes, Elaine, Nicholson, Jeremy K, O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M, Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K, Ilyas, Mohammad, Unwin, Robert J, Gahl, William A, Warth, Richard, Kleta, Robert
Published in The New England journal of medicine (09.01.2014)
Published in The New England journal of medicine (09.01.2014)
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Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy
COENEN, Marieke J. H, HOFSTRA, Julia M, MATHIESON, Peter W, BRENCHLEY, Paul E, KLETA, Robert, WETZELS, Jack F. M, RONCO, Pierre, DEBIEC, Hanna, STANESCU, Horia C, MEDLAR, Alan J, STENGEL, Bénédicte, BOLAND-AUGE, Anne, GROOTHUISMINK, Johanne M, BOCKENHAUER, Detlef, POWIS, Steve H
Published in Journal of the American Society of Nephrology (01.04.2013)
Published in Journal of the American Society of Nephrology (01.04.2013)
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Journal Article
Liposomal Curcumin Enhances the Effect of Naproxen in a Rat Model of Migraine
Bulboacă, Adriana E, Bolboacă, Sorana D, Bulboacă, Angelo C, Porfire, Alina S, Tefas, Lucia R, Suciu, Șoimița M, Dogaru, Gabriela, Stănescu, Ioana C
Published in Medical science monitor (09.07.2019)
Published in Medical science monitor (09.07.2019)
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Journal Article
Retinal Nerve Fiber Layer Thickness and Oxidative Stress Parameters in Migraine Patients without Aura: A Pilot Study
Bulboacă, Adriana Elena, Stănescu, Ioana C, Bolboacă, Sorana D, Bulboacă, Angelo C, Bodizs, Gyorgy I, Nicula, Cristina A
Published in Antioxidants (05.06.2020)
Published in Antioxidants (05.06.2020)
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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency
Bacchelli, Chiara, PhD, Moretti, Federico A., PhD, Carmo, Marlene, PhD, Adams, Stuart, PhD, Stanescu, Horia C., PhD, Pearce, Kerra, PhD, Madkaikar, Manisha, MD, PhD, Gilmour, Kimberly C., PhD, Nicholas, Adeline K., PhD, Woods, C. Geoffrey, MD, PhD, Kleta, Robert, MD, PhD, Beales, Phil L., MD, PhD, Qasim, Waseem, MD, PhD, Gaspar, H. Bobby, MD, PhD
Published in Journal of allergy and clinical immunology (01.02.2017)
Published in Journal of allergy and clinical immunology (01.02.2017)
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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
Published in Nephron (01.04.2013)
Published in Nephron (01.04.2013)
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Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy
STANESCU, Horia C, ARCOS-BURGOS, Mauricio, STEPHENS, Henry A. F, LAUNDY, Valerie, PADMANABHAN, Sandosh, ZAWADZKA, Anna, HOFSTRA, Julia M, COENEN, Marieke J. H, DEN HEIJER, Martin, KIEMENEY, Lambertus A. L. M, BACQ-DAIAN, Delphine, STENGEL, Benedicte, MEDLAR, Alan, POWIS, Stephen H, BRENCHLEY, Paul, FEEHALLY, John, REES, AndrewJ, DEBIEC, Hanna, WETZELS, Jack F. M, RONCO, Pierre, MATHIESON, Peter W, KLETA, Robert, BOCKENHAUER, Detlef, KOTTGEN, Anna, DRAGOMIRESCU, Liviu, VOINESCU, Catalin, PATEL, Naina, PEARCE, Kerra, HUBANK, Mike
Published in The New England journal of medicine (17.02.2011)
Published in The New England journal of medicine (17.02.2011)
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Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A, Stanescu, Horia C, Tobin, Jonathan, Beales, Philip L, Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Published in Disease models & mechanisms (01.05.2013)
Published in Disease models & mechanisms (01.05.2013)
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A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance
Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Individualised placement support as an employment intervention for individuals with chronic pain: a qualitative exploration of stakeholder views
Holmes, Michelle M, Stanescu, Sabina C, Linaker, Catherine, Price, Catherine, Maguire, Nick, Fraser, Simon, Walker-Bone, Karen
Published in BJGP open (01.08.2020)
Published in BJGP open (01.08.2020)
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The laparoscopic management of simple hepatic cysts
Stănescu, C A, Păduraru, D N, Cirimbei, C, Brătucu, E
Published in Journal of medicine and life (01.07.2015)
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Published in Journal of medicine and life (01.07.2015)
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