Haack, Tobias B: search on Z-Library

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1

FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline, Shamseldin, Hanah, Tsukikawa, Mai, Sheldon, Claire, Srinivasan, Satish, Haack, Tobias, Gorza, Matteo, Wieland, Thomas, Strom, Tim, P

Journal:

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

2

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Haghighi, Alireza, Haack, Tobias B, Atiq, Mehnaz, Mottaghi, Hassan, Haghighi-Kakhki, Hamidreza, Bashir, Rani A, Ahting, Uwe, Feichtinger, René G, Mayr, Johannes A, Rötig, Agnès, Lebre, Anne-Sophie, Kl

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.22 MB

english, 2014

3

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Röeben, Benjamin, Marquetand, Justus, Bender, Benjamin, Billing, Heiko, Haack, Tobias B., Sanchez-Albisua, Iciar, Schöls, Ludger, Blom, Henk J., Synofzik, Matthis

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 674 KB

english, 2017

4

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

Fritzen, Daniel, Kuechler, Alma, Grimmel, Mona, Becker, Jessica, Peters, Sophia, Sturm, Marc, Hundertmark, Hela, Schmidt, Axel, Kreiß, Martina, Strom, Tim M., Wieczorek, Dagmar, Haack, Tobias B., Beck

Journal:

Year:

2018

Language:

english

File:

PDF, 1.38 MB

english, 2018

5

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy â a case report

Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 2.60 MB

2020

6

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Alhaddad, Bader, Schossig, Anna, Haack, Tobias, Kovács-Nagy, Reka, Braunisch, Matthias, Makowski, Christine, Senderek, Jan, Vill, Katharina, Müller-Felber, Wolfgang, Strom, Tim, Krabichler, Birgit, Fr

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 265 KB

english, 2018

7

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

Koch, Johannes, Freisinger, Peter, Feichtinger, René G, Zimmermann, Franz A, Rauscher, Christian, Wagentristl, Hans P, Konstantopoulou, Vassiliki, Seidl, Rainer, Haack, Tobias B, Prokisch, Holger, Aht

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 2.35 MB

english, 2015

8

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novelPRPS1mutation

Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André BP, de Brouwer, Arjan PM, Schöls, Ludg

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 447 KB

english, 2014

9

Does the efficacy of parent–child training depend on maternal symptom improvement? Results from a randomized controlled trial on children and mothers both affected by attention-deficit/hyperactivity disorder (ADHD)

Häge, Alexander, Alm, Barbara, Banaschewski, Tobias, Becker, Katja, Colla, Michael, Freitag, Christine, Geissler, Julia, von Gontard, Alexander, Graf, Erika, Haack-Dees, Barbara, Hänig, Susann, Hennig

Journal:

European Child & Adolescent Psychiatry

Year:

2018

Language:

english

File:

PDF, 764 KB

english, 2018

10

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Rattay, Tim W., Rautenberg, Maren, SÃ¶hn, Anne S., Hengel, Holger, TraschÃ¼tz, Andreas, RÃ¶ben, Benjamin, Hayer, Stefanie N., SchÃ¼le, Rebecca, Wiethoff, Sarah, Zeltner, Lena, Haack, Tobias B., Cegan,

Journal:

Scientific Reports

Year:

2020

File:

PDF, 2.61 MB

2020

11

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha,

Journal:

European Journal of Human Genetics

Year:

2020

Language:

english

File:

PDF, 852 KB

english, 2020

12

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

13

TBR1 gene defects and their possible role for cortical malformations

Magg, Janine, Buchert, Rebecca, Haack, Tobias, Krägeloh-Mann, Ingeborg

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 55 KB

english, 2017

14

Cofactor deficiency in mitochondrial diseases

Mataković, Lavinija, Prokish, Holger, Feichtinger, Rene, Sperl, Wolfgang, Haack, Tobias, Mayr, Johannes A.

Journal:

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

15

The many faces of paediatric mitochondrial disease on neuroimaging

Baertling, Fabian, Klee, Dirk, Haack, Tobias B., Prokisch, Holger, Meitinger, Thomas, Mayatepek, Ertan, Schaper, Jörg, Distelmaier, Felix

Journal:

Child's Nervous System

Year:

2016

Language:

english

File:

PDF, 3.44 MB

english, 2016

16

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poul

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 3.28 MB

english, 2018

17

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf, Franz A. Zimmermann, Thomas Wieland, Birgit Haberberger, Andrea Superti-Furga, Janbernd Kirschner, Beat Steinmann, Matthias R. Baumgartner, Isabella

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 444 KB

english, 2012

18

Impaired riboflavin transport due to missense mutations inSLC52A2causes Brown-Vialetto-Van Laere syndrome

Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, S

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 379 KB

english, 2012

19

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations: Figure 1

Synofzik, Matthis, Kernstock, Christoph, Haack, Tobias B, Schöls, Ludger

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 784 KB

english, 2015

20

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Danhauser, Katharina, Herebian, Diran, Haack, Tobias B, Rodenburg, Richard J, Strom, Tim M, Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 754 KB

english, 2015

21

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

Kremer, Laura S., Stead, Caroline L’hermitte-, Lesimple, Pierre, Gilleron, Mylène, Filaut, Sandrine, Jardel, Claude, Haack, Tobias B., Strom, Tim M., Meitinger, Thomas, Azzouz, Hatem, Tebib, Neji, Bau

Journal:

Journal of Hepatology

Year:

2016

Language:

english

File:

PDF, 3.93 MB

english, 2016

22

Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

23

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, Koňaříková, Elišk

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 1.86 MB

english, 2017

24

Spectrum of combined respiratory chain defects

Mayr, Johannes A., Haack, Tobias B., Freisinger, Peter, Karall, Daniela, Makowski, Christine, Koch, Johannes, Feichtinger, René G., Zimmermann, Franz A., Rolinski, Boris, Ahting, Uwe, Meitinger, Thoma

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1023 KB

english, 2015

25

[International Review of Neurobiology] Metal Related Neurodegenerative Disease Volume 110 || BPAN

Haack, Tobias B.

Year:

2013

Language:

english

File:

PDF, 212 KB

english, 2013

26

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations — A tool for the diagnosis of uromodulin-associated kidney disease

Satanovskij, Robin, Bader, Alhaddad, Block, Matthias, Herbst, Victor, Schlumberger, Wolfgang, Haack, Tobias, Nockher, Wolfgang Andreas, Heemann, Uwe, Renders, Lutz, Schmaderer, Christoph, Angermann, S

Journal:

Clinical Biochemistry

Year:

2016

Language:

english

File:

PDF, 350 KB

english, 2016

27

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 526 KB

english, 2011

28

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Haack, Tobias B., Gorza, Matteo, Danhauser, Katharina, Mayr, Johannes A., Haberberger, Birgit, Wieland, Thomas, Kremer, Laura, Strecker, Valentina, Graf, Elisabeth, Memari, Yasin, Ahting, Uwe, Kopajti

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.16 MB

english, 2014

29

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Diodato, Daria, Melchionda, Laura, Haack, Tobias B., Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleon

Journal:

Year:

2014

Language:

english

File:

PDF, 778 KB

english, 2014

30

A large impact crater beneath Hiawatha Glacier in northwest Greenland

Kjær, Kurt H., Larsen, Nicolaj K., Binder, Tobias, Bjørk, Anders A., Eisen, Olaf, Fahnestock, Mark A., Funder, Svend, Garde, Adam A., Haack, Henning, Helm, Veit, Houmark-Nielsen, Michael, Kjeldsen, Kr

Journal:

Science Advances

Year:

2018

Language:

english

File:

PDF, 4.00 MB

english, 2018

31

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:

2015

Language:

english

File:

PDF, 48 KB

english, 2015

32

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Je

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 736 KB

english, 2015

33

Blue Diaper Syndrome and PCSK1 Mutations

Distelmaier, Felix, Herebian, Diran, Atasever, Claudia, Beck-Woedl, Stefanie, Mayatepek, Ertan, Strom, Tim M., Haack, Tobias B.

Journal:

Year:

2018

Language:

english

File:

PDF, 853 KB

english, 2018

34

Whole exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb

Umair, Muhammad, Bilal, Muhammad, Ali, Raja Hussain, Alhaddad, Bader, Ahmad, Farooq, Abdullah,, Haack, Tobias B., Alfadhel, Majed, Ansar, Muhammad, Meitinger, Thomas, Ahmad, Wasim

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 763 KB

english, 2019

35

LINS1 -associated neurodevelopmental disorder

Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 433 KB

2020

36

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

Zimmermann, Milan, Deininger, Natalie, Willikens, Sophia, Haack, Tobias B., Grundmann-Hauser, Kathrin, Streubel, Berthold, Schreiber, Melanie, Lerche, Holger, Grimm, Alexander

Journal:

Neurological Sciences

Year:

2020

File:

PDF, 173 KB

2020

37

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )

Wambach, Jennifer A., Stettner, Georg M., Haack, Tobias B., Writzl, Karin, Škofljanec, Andreja, Maver, Aleš, Munell, Francina, Ossowski, Stephan, Bosio, Mattia, Wegner, Daniel J., Shinawi, Marwan, Bal

Journal:

Year:

2017

Language:

english

File:

PDF, 1.37 MB

english, 2017

38

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

Laugwitz, Lucia, Buchert, Rebecca, Groeschel, Samuel, Riess, Angelika, Grimmel, Mona, Beck-WÃ¶dl, Stefanie, Sturm, Marc, Gohla, Georg, DÃ¶bler-Neumann, Marion, KrÃ¤geloh-Mann, Ingeborg, Haack, Tobias

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 2.72 MB

2020

39

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, Ra

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 3.01 MB

english, 2013

40

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related toFBXL4mutations

Huemer, Martina, Karall, Daniela, Schossig, Anna, Abdenur, Jose E., Al Jasmi, Fatma, Biagosch, Caroline, Distelmaier, Felix, Freisinger, Peter, Graham, Brett H., Haack, Tobias B., Hauser, Natalie, Her

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

41

Treatable mitochondrial diseases: cofactor metabolism and beyond

Distelmaier, Felix, Haack, Tobias B., Wortmann, Saskia B., Mayr, Johannes A., Prokisch, Holger

Journal:

Year:

2017

Language:

english

File:

PDF, 202 KB

english, 2017

42

Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

Johannsen, Jessika, Hempel, Maja, Diehl, Thilo, Haack, Tobias B., Denecke, Jonas

Journal:

Pediatrics & Neonatology

Year:

2016

Language:

english

File:

PDF, 162 KB

english, 2016

43

Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

Umair, Muhammad, Seidel, Heide, Ahmed, Ishtiaq, Ullah, Asmat, Haack, Tobias B., Alhaddad, Bader, Jan, Abid, Rafique, Afzal, Strom, Tim M., Ahmad, Farooq, Meitinger, Thomas, Ahmad, Wasim

Journal:

Journal of Genetics

Year:

2017

Language:

english

File:

PDF, 4.12 MB

english, 2017

44

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

Matthis Synofzik, Walter Maetzler, Torsten Grehl, Johannes Prudlo, Jennifer Müller vom Hagen, Tobias Haack, Piret Rebassoo, Marita Munz, Ludger Schöls, Saskia Biskup

Journal:

Neurobiology of Aging

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

45

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

Hildick-Smith, Gordon J., Cooney, Jeffrey D., Garone, Caterina, Kremer, Laura S., Haack, Tobias B., Thon, Jonathan N., Miyata, Non, Lieber, Daniel S., Calvo, Sarah E., Akman, H. Orhan, Yien, Yvette Y.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.46 MB

english, 2013

46

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.55 MB

english, 2016

47

The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias, Horvath, Rita, Baric, Ivo, Husa

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

48

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency

Johannes A. Mayr, Olaf Bodamer, Tobias B. Haack, Franz A. Zimmermann, Florence Madignier, Holger Prokisch, Christian Rauscher, Johannes Koch, Wolfgang Sperl

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 514 KB

english, 2011

49

THE LANCET.

Hildick-Smith, Gordon J., Cooney, Jeffrey D., Garone, Caterina, Kremer, Laura S., Haack, Tobias B., Thon, Jonathan N., Miyata, Non, Lieber, Daniel S., Calvo, Sarah E., Akman, H. Orhan, Yien, Yvette Y.

Journal:

Year:

1823

Language:

english

File:

PDF, 63 KB

english, 1823

50

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, H

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

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