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1
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
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Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Dusi, Sabrina ; Valletta, Lorella ; Haack, Tobias B ; Tsuchiya, Yugo ; Venco, Paola ; Pasqualato, Sebastiano ; Goffrini, Paola ; Tigano, Marco ; Demchenko, Nikita ; Wieland, Thomas ; Schwarzmayr, Thomas ; Strom, Tim M ; Invernizzi, Federica ; Garavaglia, Barbara ; Gregory, Allison ; Sanford, Lynn ; Hamada, Jeffrey ; Bettencourt, Conceição ; Houlden, Henry ; Chiapparini, Luisa ; Zorzi, Giovanna ; Kurian, Manju A ; Nardocci, Nardo ; Prokisch, Holger ; Hayflick, Susan ; Gout, Ivan ; Tiranti, Valeria

American journal of human genetics, 2014-01-02, Vol.94 (1), p.11-22 [Rivista Peer Reviewed]

United States: Elsevier Inc

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2
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Zech, Michael ; Boesch, Sylvia ; Maier, Esther M ; Borggraefe, Ingo ; Vill, Katharina ; Laccone, Franco ; Pilshofer, Veronika ; Ceballos-Baumann, Andres ; Alhaddad, Bader ; Berutti, Riccardo ; Poewe, Werner ; Haack, Tobias B ; Haslinger, Bernhard ; Strom, Tim M ; Winkelmann, Juliane

American journal of human genetics, 2016-12-01, Vol.99 (6), p.1377-1387 [Rivista Peer Reviewed]

United States: Elsevier Inc

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3
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
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Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

Ghezzi, Daniele ; Baruffini, Enrico ; Haack, Tobias B ; Invernizzi, Federica ; Melchionda, Laura ; Dallabona, Cristina ; Strom, Tim M ; Parini, Rossella ; Burlina, Alberto B ; Meitinger, Thomas ; Prokisch, Holger ; Ferrero, Ileana ; Zeviani, Massimo

American journal of human genetics, 2012, Vol.90 (6), p.1079-1087 [Rivista Peer Reviewed]

United States: Elsevier BV

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4
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, Tobias B ; Hogarth, Penelope ; Kruer, Michael C ; Gregory, Allison ; Wieland, Thomas ; Schwarzmayr, Thomas ; Graf, Elisabeth ; Sanford, Lynn ; Meyer, Esther ; Kara, Eleanna ; Cuno, Stephan M ; Harik, Sami I ; Dandu, Vasuki H ; Nardocci, Nardo ; Zorzi, Giovanna ; Dunaway, Todd ; Tarnopolsky, Mark ; Skinner, Steven ; Frucht, Steven ; Hanspal, Era ; Schrander-Stumpel, Connie ; Héron, Delphine ; Mignot, Cyril ; Garavaglia, Barbara ; Bhatia, Kailash ; Hardy, John ; Strom, Tim M ; Boddaert, Nathalie ; Houlden, Henry H ; Kurian, Manju A ; Meitinger, Thomas ; Prokisch, Holger ; Hayflick, Susan J

American journal of human genetics, 2012, Vol.91 (6), p.1144-1149 [Rivista Peer Reviewed]

United States: Elsevier BV

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5
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Synofzik, Matthis ; Soehn, Anne S ; Gburek-Augustat, Janina ; Schicks, Julia ; Karle, Kathrin N ; Schüle, Rebecca ; Haack, Tobias B ; Schöning, Martin ; Biskup, Saskia ; Rudnik-Schöneborn, Sabine ; Senderek, Jan ; Hoffmann, Karl-Titus ; MacLeod, Patrick ; Schwarz, Johannes ; Bender, Benjamin ; Krüger, Stefan ; Kreuz, Friedmar ; Bauer, Peter ; Schöls, Ludger

Orphanet journal of rare diseases, 2013, Vol.8 (1), p.41-41 [Rivista Peer Reviewed]

England: Springer Science and Business Media LLC

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6
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Mayr, Johannes A ; Haack, Tobias B ; Graf, Elisabeth ; Zimmermann, Franz A ; Wieland, Thomas ; Haberberger, Birgit ; Superti-Furga, Andrea ; Kirschner, Janbernd ; Steinmann, Beat ; Baumgartner, Matthias R ; Moroni, Isabella ; Lamantea, Eleonora ; Zeviani, Massimo ; Rodenburg, Richard J ; Smeitink, Jan ; Strom, Tim M ; Meitinger, Thomas ; Sperl, Wolfgang ; Prokisch, Holger

American journal of human genetics, 2012-02-10, Vol.90 (2), p.314-320 [Rivista Peer Reviewed]

United States: Elsevier Inc

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7
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
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Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Synofzik, Matthis ; Haack, Tobias B ; Kopajtich, Robert ; Gorza, Matteo ; Rapaport, Doron ; Greiner, Markus ; Schönfeld, Caroline ; Freiberg, Clemens ; Schorr, Stefan ; Holl, Reinhard W ; Gonzalez, Michael A ; Fritsche, Andreas ; Fallier-Becker, Petra ; Zimmermann, Richard ; Strom, Tim M ; Meitinger, Thomas ; Züchner, Stephan ; Schüle, Rebecca ; Schöls, Ludger ; Prokisch, Holger

American journal of human genetics, 2014, Vol.95 (6), p.689-697 [Rivista Peer Reviewed]

United States: Elsevier BV

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8
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Synofzik, Matthis ; Smets, Katrien ; Mallaret, Martial ; Di Bella, Daniela ; Gallenmüller, Constanze ; Baets, Jonathan ; Schulze, Martin ; Magri, Stefania ; Sarto, Elisa ; Mustafa, Mona ; Deconinck, Tine ; Haack, Tobias ; Züchner, Stephan ; Gonzalez, Michael ; Timmann, Dagmar ; Stendel, Claudia ; Klopstock, Thomas ; Durr, Alexandra ; Tranchant, Christine ; Sturm, Marc ; Hamza, Wahiba ; Nanetti, Lorenzo ; Mariotti, Caterina ; Koenig, Michel ; Schöls, Ludger ; Schüle, Rebecca ; de Jonghe, Peter ; Anheim, Mathieu ; Taroni, Franco ; Bauer, Peter ; Herrada, Anthony

Brain (London, England : 1878), 2016, Vol.139 (5), p.1378-1393 [Rivista Peer Reviewed]

England: Oxford University Press (OUP)

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9
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Olsen, Rikke K.J ; Koňaříková, Eliška ; Giancaspero, Teresa A ; Mosegaard, Signe ; Boczonadi, Veronika ; Mataković, Lavinija ; Veauville-Merllié, Alice ; Terrile, Caterina ; Schwarzmayr, Thomas ; Haack, Tobias B ; Auranen, Mari ; Leone, Piero ; Galluccio, Michele ; Imbard, Apolline ; Gutierrez-Rios, Purificacion ; Palmfeldt, Johan ; Graf, Elisabeth ; Vianey-Saban, Christine ; Oppenheim, Marcus ; Schiff, Manuel ; Pichard, Samia ; Rigal, Odile ; Pyle, Angela ; Chinnery, Patrick F ; Konstantopoulou, Vassiliki ; Möslinger, Dorothea ; Feichtinger, René G ; Talim, Beril ; Topaloglu, Haluk ; Coskun, Turgay ; Gucer, Safak ; Botta, Annalisa ; Pegoraro, Elena ; Malena, Adriana ; Vergani, Lodovica ; Mazzà, Daniela ; Zollino, Marcella ; Ghezzi, Daniele ; Acquaviva, Cecile ; Tyni, Tiina ; Boneh, Avihu ; Meitinger, Thomas ; Strom, Tim M ; Gregersen, Niels ; Mayr, Johannes A ; Horvath, Rita ; Barile, Maria ; Prokisch, Holger ; Pillet, Lauriane

American journal of human genetics, 2016, Vol.98 (6), p.1130-1145 [Rivista Peer Reviewed]

United States: Elsevier BV

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10
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
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ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Haack, Tobias B ; Kopajtich, Robert ; Freisinger, Peter ; Wieland, Thomas ; Rorbach, Joanna ; Nicholls, Thomas J ; Baruffini, Enrico ; Walther, Anett ; Danhauser, Katharina ; Zimmermann, Franz A ; Husain, Ralf A ; Schum, Jessica ; Mundy, Helen ; Ferrero, Ileana ; Strom, Tim M ; Meitinger, Thomas ; Taylor, Robert W ; Minczuk, Michal ; Mayr, Johannes A ; Prokisch, Holger

American journal of human genetics, 2013, Vol.93 (2), p.211-223 [Rivista Peer Reviewed]

United States: Elsevier BV

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