Haack, Tobias B: search on Z-Library

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51

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Fischer-Zirnsak, Björn, Koenig, Rainer, Alisch, Franz, Güneş, Nilay, Hausser, Ingrid, Saha, Namrata, Beck-Woedl, Stefanie, Haack, Tobias B., Thiel, Christian, Kamrath, Clemens, Tüysüz, Beyhan, Henning

Journal:

Journal of Human Genetics

Year:

2019

File:

PDF, 1.50 MB

2019

52

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.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

53

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ah

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 644 KB

english, 2015

54

Genetic cause and prevalence of hydroxyprolinemia

Staufner, Christian, Haack, Tobias B., Feyh, Patrik, Gramer, Gwendolyn, Raga, Deepthi Ediga, Terrile, Caterina, Sauer, Sven, Okun, Jürgen G., Fang-Hoffmann, Junmin, Mayatepek, Ertan, Prokisch, Holger,

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 429 KB

english, 2016

55

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, Sa

Journal:

Year:

2017

Language:

english

File:

PDF, 743 KB

english, 2017

56

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

Krenn, Martin, Salzer, Elisabeth, Simonitsch-Klupp, Ingrid, Rath, Jakob, Wagner, Matias, Haack, Tobias B., Strom, Tim M., Schänzer, Anne, Kilimann, Manfred W., Schmidt, Ralf L. J., Schmetterer, Klaus

Journal:

Journal of Neurology

Year:

2017

Language:

english

File:

PDF, 1.45 MB

english, 2017

57

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature

Traschütz, Andreas, van Gaalen, Judith, Oosterloo, Mayke, Vreeburg, Maaike, Kamsteeg, Erik-Jan, Deininger, Natalie, Rieß, Olaf, Reimold, Matthias, Haack, Tobias, Schöls, Ludger, van de Warrenburg, Bar

Journal:

Parkinsonism & Related Disorders

Year:

2018

Language:

english

File:

PDF, 694 KB

english, 2018

58

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B, Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas,

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 710 KB

english, 2013

59

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Staufner, Christian, Haack, Tobias B., Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 4.97 MB

english, 2016

60

ADIPOSE DERIVED STROMAL CELLS FOR REFRACTORY ANGINA: RESULTS FROM MYSTROMALCELL TRIAL

Qayyum, Abbas Ali, Mathiasen, Anders, Mygind, Naja, Kuhl, Tobias, Joergensen, Erik, Helqvist, Steffen, Elberg, Jens Jørgen, Kofoed, Klaus, Vejlstrup, Niels, Fischer-Nielsen, Anne, Haack-Sørensen, Mand

Journal:

Journal of the American College of Cardiology

Year:

2017

Language:

english

File:

PDF, 358 KB

english, 2017

61

Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability

Schiff, Manuel, Haack, Tobias, Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Martinez, Aurora, Benoist, Jean-

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 154 KB

english, 2017

62

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Ei

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.07 MB

english, 2017

63

Homozygous missense mutation inBOLA3causes multiple mitochondrial dysfunctions syndrome in two siblings

Haack, Tobias B., Rolinski, Boris, Haberberger, Birgit, Zimmermann, Franz, Schum, Jessica, Strecker, Valentina, Graf, Elisabeth, Athing, Uwe, Hoppen, Thomas, Wittig, Ilka, Sperl, Wolfgang, Freisinger,

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 448 KB

english, 2013

64

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

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.08 MB

english, 2014

65

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.77 MB

english, 2016

66

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.24 MB

english, 2017

67

Resource Utilization and Costs of Stroke Unit Care in Germany

Richard C. Dodel, Caroline Haacke, Karin Zamzow, Sven Pawelzik, Annika Spottke, Mira Rethfeldt, Uwe Siebert, Wolfgang H. Oertel, Oliver Schöffski, Tobias Back

Journal:

Value in Health

Year:

2004

Language:

english

File:

PDF, 108 KB

english, 2004

68

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Rom

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.79 MB

english, 2016

69

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Th

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 415 KB

english, 2015

70

IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus

Prilop, Lisa, Buchert, Ralph, Woerz, Sarah, Gerloff, Christian, Haack, Tobias B., Zittel, Simone

Journal:

Parkinsonism & Related Disorders

Year:

2020

File:

PDF, 499 KB

2020

71

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline A., Shamseldin, Hanan E., Haack, Tobias B., Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A., Srinivasan, Satish, Gorza, Matteo, Kr

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.46 MB

english, 2013

72

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.38 MB

english, 2015

73

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Ale

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

74

EARS2mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

Danhauser, Katharina, Haack, Tobias B., Alhaddad, Bader, Melcher, Marlen, Seibt, Annette, Strom, Tim M., Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix

Journal:

Metabolic Brain Disease

Year:

2016

Language:

english

File:

PDF, 477 KB

english, 2016

75

Novel HIVEP2 Variants in Patients with Intellectual Disability

Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin

Journal:

Molecular Syndromology

Year:

2019

Language:

english

File:

PDF, 1.18 MB

english, 2019

76

Novel mutation points to a hot spot in CDKN1C causing SilverâRussell syndrome

Binder, Gerhard, Ziegler, Julian, Schweizer, Roland, Habhab, Wisam, Haack, Tobias B., Heinrich, Tilman, Eggermann, Thomas

Journal:

Clinical Epigenetics

Year:

2020

File:

PDF, 1.48 MB

2020

77

Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

Schulte, Eva C., Claussen, Malte C., Jochim, Angela, Haack, Tobias, Hartig, Monika, Hempel, Maja, Prokisch, Holger, Haun-Jünger, Ursula, Winkelmann, Juliane, Hemmer, Bernhard, Förschler, Annette, Ilg,

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 1.03 MB

english, 2013

78

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C, Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L I, Hempel, Maja, Haack, Tobias B, Baresic, Anja, Genetti, Casie A, Funari

Journal:

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

79

Novel Biallelic CTSD Gene Variants Cause LateâOnset Ataxia and Retinitis Pigmentosa

Regensburger, Martin, Minakaki, Georgia, Kettwig, Matthias, Huchzermeyer, Cord, Eisenhut, Felix, Haack, Tobias B., Kohl, Zacharias, Winkler, JÃ¼rgen

Journal:

Movement Disorders

Year:

2020

File:

PDF, 612 KB

2020

80

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika B. Hartig, Arcangela Iuso, Tobias Haack, Tomasz Kmiec, Elzbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Malgorzata Krajewska-Walasek, Sergiusz Jozwiak, Maja H

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 899 KB

english, 2011

81

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hof

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 495 KB

english, 2012

82

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

Sperl, Wolfgang, Fleuren, Leanne, Freisinger, Peter, Haack, Tobias B., Ribes, Antonia, Feichtinger, René G., Rodenburg, Richard J., Zimmermann, Franz A., Koch, Johannes, Rivera, Isabel, Prokisch, Holg

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 648 KB

english, 2015

83

[IEEE 2014 Winter Simulation Conference - (WSC 2014) - Savanah, GA, USA (2014.12.7-2014.12.10)] Proceedings of the Winter Simulation Conference 2014 - Multi-level modeling and simulation of cell biological systems with ML-Rules - A tutorial

Helms, Tobias, Maus, Carsten, Haack, Fiete, Uhrmacher, Adelinde M.

Year:

2014

Language:

english

File:

PDF, 170 KB

english, 2014

84

MRPS22mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

Baertling, Fabian, Haack, Tobias B., Rodenburg, Richard J., Schaper, Jörg, Seibt, Annette, Strom, Tim M., Meitinger, Thomas, Mayatepek, Ertan, Hadzik, Berit, Selcan, Gündüz, Prokisch, Holger, Distelma

Journal:

Year:

2015

Language:

english

File:

PDF, 368 KB

english, 2015

85

Bain type of X‐linked syndromic mental retardation in boys

Harmsen, Stefani, Buchert, Rebecca, Mayatepek, Ertan, Haack, Tobias B., Distelmaier, Felix

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 517 KB

english, 2019

86

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica Y,

Journal:

Year:

2020

File:

PDF, 874 KB

2020

87

Ataxia oculomotor apraxia type 2: course over 27

Tobias Haack, Douglas Friday, Andreas Bender, Arndt Rolfs, Thomas Klopstock

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 163 KB

english, 2009

88

MRPL44mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Distelmaier, Felix, Haack, Tobias B., Catarino, Claudia B., Gallenmüller, Constanze, Rodenburg, Richard J., Strom, Tim M., Baertling, Fabian, Meitinger, Thomas, Mayatepek, Ertan, Prokisch, Holger, Klo

Journal:

Year:

2015

Language:

english

File:

PDF, 1.38 MB

english, 2015

89

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

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 4.82 MB

english, 2016

90

Exome sequencing revealed a novel homozygous splice site variant in WNT1 gene underlying osteogenesis imperfecta type 3

Umair, Muhammad, Alhaddad, Bader, Rafique, Afzal, Jan, Abid, Haack, Tobias B, Graf, Elisabeth, Ullah, Asmat, Ahmad, Farooq, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

Journal:

Pediatric Research

Year:

2017

Language:

english

File:

PDF, 2.68 MB

english, 2017

91

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, Pippucc

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 4.52 MB

english, 2018

92

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Fischer-Zirnsak, Björn, Koenig, Rainer, Alisch, Franz, Güneş, Nilay, Hausser, Ingrid, Saha, Namrata, Beck-Woedl, Stefanie, Haack, Tobias B., Thiel, Christian, Kamrath, Clemens, Tüysüz, Beyhan, Henning

Journal:

Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.50 MB

english, 2019

93

Neonatal encephalocardiomyopathy caused by mutations inVARS2

Baertling, Fabian, Alhaddad, Bader, Seibt, Annette, Budaeus, Sonja, Meitinger, Thomas, Strom, Tim M., Mayatepek, Ertan, Schaper, Jörg, Prokisch, Holger, Haack, Tobias B., Distelmaier, Felix

Journal:

Metabolic Brain Disease

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

94

Reducing oblique flow effects in interleaved EPI with a centric reordering technique

Gabriele Beck, Debiao Li, E. Mark Haacke, Tobias G. Noll, Lothar R. Schad

Journal:

Magnetic Resonance in Medicine

Year:

2001

Language:

english

File:

PDF, 374 KB

english, 2001

95

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Collet, Marie, Assouline, Zahra, Bonnet, Damien, Rio, Marlène, Iserin, Franck, Sidi, Daniel, Goldenberg, Alice, Lardennois, Caroline, Metodiev, Metodi Dimitrov, Haberberger, Birgit, Haack, Tobias, Mun

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

96

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Oláhová, Monika, Hardy, Steven A., Hall, Julie, Yarham, John W., Haack, Tobias B., Wilson, William C., Alston, Charlotte L., He, Langping, Aznauryan, Erik, Brown, Ruth M., Brown, Garry K., Morris, And

Journal:

Year:

2015

Language:

english

File:

PDF, 797 KB

english, 2015

97

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Vill, Katharina, Müller-Felber, Wolfgang, Alhaddad, Bader, Strom, Tim M., Teusch, Veronika, Weigand, Heike, Blaschek, Astrid, Meitinger, Thomas, Haack, Tobias B.

Journal:

Movement Disorders

Year:

2017

Language:

english

File:

PDF, 229 KB

english, 2017

98

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Haack, Tobias B, Danhauser, Katharina, Haberberger, Birgit, Hoser, Jonathan, Strecker, Valentina, Boehm, Detlef, Uziel, Graziella, Lamantea, Eleonora, Invernizzi, Federica, Poulton, Joanna

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 478 KB

english, 2010

99

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz A. Zimmermann, Thomas Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 474 KB

english, 2011

100

Costs of acute stroke care on regular neurological wards: A comparison with stroke unit setting

Yaroslav Epifanov, Richard Dodel, Caroline Haacke, Matthias Schaeg, Oliver Schöffski, Michael Hennerici, Tobias Back

Journal:

Year:

2007

Language:

english

File:

PDF, 293 KB

english, 2007

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