Pesquisa | Biblioteca Virtual em Saúde

1.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso, Arcangela; Wiersma, Marit; Schüller, Hans-Joachim; Pode-Shakked, Ben; Marek-Yagel, Dina; Grigat, Mathias; Schwarzmayr, Thomas; Berutti, Riccardo; Alhaddad, Bader; Kanon, Bart; Grzeschik, Nicola A; Okun, Jürgen G; Perles, Zeev; Salem, Yishay; Barel, Ortal; Vardi, Amir; Rubinshtein, Marina; Tirosh, Tal; Dubnov-Raz, Gal; Messias, Ana C; Terrile, Caterina; Barshack, Iris; Volkov, Alex; Avivi, Camilla; Eyal, Eran; Mastantuono, Elisa; Kumbar, Muhamad; Abudi, Shachar; Braunisch, Matthias; Strom, Tim M; Meitinger, Thomas; Hoffmann, Georg F; Prokisch, Holger; Haack, Tobias B; Brundel, Bianca J J M; Haas, Dorothea; Sibon, Ody C M; Anikster, Yair.

Am J Hum Genet; 102(6): 1018-1030, 2018 06 07.

Artigo em Inglês | MEDLINE | ID: mdl-29754768

2.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Kremer, Laura S; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F; Strom, Tim M; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger; Haack, Tobias B.

Am J Hum Genet; 98(2): 358-62, 2016 Feb 04.

Artigo em Inglês | MEDLINE | ID: mdl-26805782

3.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack, Tobias B; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A; Hayflick, Susan A; Venco, Paola; Tiranti, Valeria; Strom, Tim M; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J; Klopstock, Thomas.

Am J Hum Genet; 99(3): 735-743, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27545679

4.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; van Gassen, Koen L I; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A; Sacher, Michael; van Hasselt, Peter M.

J Med Genet; 55(11): 753-764, 2018 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-30120216

5.

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Carecchio, Miryam; Picillo, Marina; Valletta, Lorella; Elia, Antonio E; Haack, Tobias B; Cozzolino, Autilia; Vitale, Annalisa; Garavaglia, Barbara; Iuso, Arcangela; Bagella, Caterina F; Pappatà, Sabina; Barone, Paolo; Prokisch, Holger; Romito, Luigi; Tiranti, Valeria.

Neurogenetics; 18(3): 175-178, 2017 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-28664294

6.

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Koch, Johannes; Feichtinger, René G; Freisinger, Peter; Pies, Mechthild; Schrödl, Falk; Iuso, Arcangela; Sperl, Wolfgang; Mayr, Johannes A; Prokisch, Holger; Haack, Tobias B.

J Med Genet; 53(4): 270-8, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-26783368

7.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig, Monika B; Iuso, Arcangela; Haack, Tobias; Kmiec, Tomasz; Jurkiewicz, Elzbieta; Heim, Katharina; Roeber, Sigrun; Tarabin, Victoria; Dusi, Sabrina; Krajewska-Walasek, Malgorzata; Jozwiak, Sergiusz; Hempel, Maja; Winkelmann, Juliane; Elstner, Matthias; Oexle, Konrad; Klopstock, Thomas; Mueller-Felber, Wolfgang; Gasser, Thomas; Trenkwalder, Claudia; Tiranti, Valeria; Kretzschmar, Hans; Schmitz, Gerd; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger.

Am J Hum Genet; 89(4): 543-50, 2011 Oct 07.

Artigo em Inglês | MEDLINE | ID: mdl-21981780

8.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack, Tobias B; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A; Ahting, Uwe; Tiranti, Valeria; Rötig, Agnes; Iuso, Arcangela; Horvath, Rita; Tesarova, Marketa; Baric, Ivo; Uziel, Graziella; Rolinski, Boris; Sperl, Wolfgang; Meitinger, Thomas; Zeviani, Massimo; Freisinger, Peter; Prokisch, Holger.

J Med Genet; 49(2): 83-9, 2012 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-22200994

9.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A; Herberg, Ulrike; Hennermann, Julia B; Klopstock, Thomas; Kuhn, Klaus A; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas; Prokisch, Holger.

J Med Genet; 49(4): 277-83, 2012 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-22499348

10.

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.

Danhauser, Katharina; Iuso, Arcangela; Haack, Tobias B; Freisinger, Peter; Brockmann, Knut; Mayr, Johannes A; Meitinger, Thomas; Prokisch, Holger.

Mol Genet Metab; 103(2): 161-6, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-21458341

11.

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.

Papa, Sergio; Petruzzella, Vittoria; Scacco, Salvatore; Sardanelli, Anna Maria; Iuso, Arcangela; Panelli, Damiano; Vitale, Rita; Trentadue, Raffaella; De Rasmo, Domenico; Capitanio, Nazzareno; Piccoli, Claudia; Papa, Francesco; Scivetti, Michele; Bertini, Enrico; Rizza, Teresa; De Michele, Giuseppe.

Biochim Biophys Acta; 1787(5): 502-17, 2009 May.

Artigo em Inglês | MEDLINE | ID: mdl-19210954

12.

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.

Ahting, Uwe; Floss, Thomas; Uez, Nikolas; Schneider-Lohmar, Ilka; Becker, Lore; Kling, Eva; Iuso, Arcangela; Bender, Andreas; de Angelis, Martin Hrabé; Gailus-Durner, Valérie; Fuchs, Helmut; Meitinger, Thomas; Wurst, Wolfgang; Prokisch, Holger; Klopstock, Thomas.

Biochim Biophys Acta; 1787(5): 371-6, 2009 May.

Artigo em Inglês | MEDLINE | ID: mdl-19111522

13.

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.

Catania, Alessia; Iuso, Arcangela; Bouchereau, Juliette; Kremer, Laura S; Paviolo, Marina; Terrile, Caterina; Bénit, Paule; Rasmusson, Allan G; Schwarzmayr, Thomas; Tiranti, Valeria; Rustin, Pierre; Rak, Malgorzata; Prokisch, Holger; Schiff, Manuel.

Orphanet J Rare Dis; 14(1): 236, 2019 Oct 29.

Artigo em Inglês | MEDLINE | ID: mdl-31665043

14.

Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation.

Piccoli, Claudia; Sardanelli, Annamaria; Scrima, Rosella; Ripoli, Maria; Quarato, Giovanni; D'Aprile, Annamaria; Bellomo, Francesco; Scacco, Salvatore; De Michele, Giuseppe; Filla, Alessandro; Iuso, Arcangela; Boffoli, Domenico; Capitanio, Nazzareno; Papa, Sergio.

Neurochem Res; 33(12): 2565-74, 2008 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-18473170

15.

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

Yépez, Vicente A; Kremer, Laura S; Iuso, Arcangela; Gusic, Mirjana; Kopajtich, Robert; Konaríková, Eliska; Nadel, Agnieszka; Wachutka, Leonhard; Prokisch, Holger; Gagneur, Julien.

PLoS One; 13(7): e0199938, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29995917

16.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

Iuso, Arcangela; Alhaddad, Bader; Weigel, Corina; Kotzaeridou, Urania; Mastantuono, Elisa; Schwarzmayr, Thomas; Graf, Elisabeth; Terrile, Caterina; Prokisch, Holger; Strom, Tim M; Hoffmann, Georg F; Meitinger, Thomas; Haack, Tobias B.

JIMD Rep; 2018 Jun 20.

Artigo em Inglês | MEDLINE | ID: mdl-29923093

17.

Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer.

Iuso, Arcangela; Repp, Birgit; Biagosch, Caroline; Terrile, Caterina; Prokisch, Holger.

Methods Mol Biol; 1567: 217-230, 2017.

Artigo em Inglês | MEDLINE | ID: mdl-28276021

18.

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Catarino, Claudia B; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; von Livonius, Bettina; Prokisch, Holger; Klopstock, Thomas.

Mitochondrion; 36: 15-20, 2017 09.

Artigo em Inglês | MEDLINE | ID: mdl-27721048

19.

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer, Laura S; Bader, Daniel M; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konaríková, Eliska; Repp, Birgit; Kastenmüller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Gläser, Dieter; Taylor, Robert W; Ghezzi, Daniele; Mayr, Johannes A; Rötig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger.

Nat Commun; 8: 15824, 2017 06 12.

Artigo em Inglês | MEDLINE | ID: mdl-28604674

20.

cAMP controls oxygen metabolism in mammalian cells.

Piccoli, Claudia; Scacco, Salvatore; Bellomo, Francesco; Signorile, Anna; Iuso, Arcangela; Boffoli, Domenico; Scrima, Rosella; Capitanio, Nazzareno; Papa, Sergio.

FEBS Lett; 580(18): 4539-43, 2006 Aug 07.

Artigo em Inglês | MEDLINE | ID: mdl-16870178

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