Tobias B Haack

Tobias B Haack

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Tobias B Haack

Tobias B Haack

Publications by authors named "Tobias B Haack"

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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2019

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

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

Novel Variants in Patients with Intellectual Disability.

Mol Syndromol 2019 Jul 3;10(4):195-201. Epub 2019 Apr 3.

Institute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.

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http://dx.doi.org/10.1159/000499060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738162PMC
July 2019

Bain type of X-linked syndromic mental retardation in boys.

Clin Genet 2019 Jun 18;95(6):734-735. Epub 2019 Mar 18.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

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http://dx.doi.org/10.1111/cge.13524DOI Listing
June 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

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

Hum Genet 2018 May 23;137(5):401-411. Epub 2018 May 23.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-018-1892-1DOI Listing
May 2018

Blue Diaper Syndrome and Mutations.

Pediatrics 2018 04;141(Suppl 5):S501-S505

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1542/peds.2017-0548DOI Listing
April 2018

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of .

Tremor Other Hyperkinet Mov (N Y) 2017 8;7:465. Epub 2017 Aug 8.

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.

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http://dx.doi.org/10.7916/D8251WB0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753PMC
March 2018

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

J Med Genet 2018 01 15;55(1):39-47. Epub 2017 Sep 15.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2017-104622DOI Listing
January 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

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

J Genet 2017 Dec;96(6):1005-1014

Faculty of Biological Sciences, Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan.

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http://dx.doi.org/10.1007/s12041-017-0868-6DOI Listing
December 2017

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

Pediatr Res 2017 Nov 26;82(5):753-758. Epub 2017 Jul 26.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://www.nature.com/doifinder/10.1038/pr.2017.149
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http://dx.doi.org/10.1038/pr.2017.149DOI Listing
November 2017

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Pediatr Neonatol 2017 10 22;58(5):458-459. Epub 2016 Nov 22.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1016/j.pedneo.2016.05.007DOI Listing
October 2017

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Eur J Hum Genet 2017 09 14;25(9):1092-1095. Epub 2017 Jun 14.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2017.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558179PMC
September 2017

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

Eur J Hum Genet 2017 08 10;25(8):960-965. Epub 2017 May 10.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/ejhg.2017.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567151PMC
August 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

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

Orphanet J Rare Dis 2017 08 1;12(1):135. Epub 2017 Aug 1.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1186/s13023-017-0687-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540565PMC
August 2017

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

Neurogenetics 2017 Jul 29;18(3):175-178. Epub 2017 Jun 29.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-017-0518-4DOI Listing
July 2017

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

Mov Disord 2017 05 2;32(5):797-799. Epub 2017 Feb 2.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26922DOI Listing
May 2017

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Metab Brain Dis 2017 02 8;32(1):267-270. Epub 2016 Aug 8.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11011-016-9890-2DOI Listing
February 2017

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Brain 2017 02 19;140(2):e11. Epub 2016 Dec 19.

Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1093/brain/aww303DOI Listing
February 2017

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

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

The many faces of paediatric mitochondrial disease on neuroimaging.

Childs Nerv Syst 2016 Nov 23;32(11):2077-2083. Epub 2016 Jul 23.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s00381-016-3190-3DOI Listing
November 2016

Genetic cause and prevalence of hydroxyprolinemia.

J Inherit Metab Dis 2016 09 2;39(5):625-632. Epub 2016 May 2.

Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany.

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http://doi.wiley.com/10.1007/s10545-016-9940-2
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http://dx.doi.org/10.1007/s10545-016-9940-2DOI Listing
September 2016

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

J Hepatol 2016 08 2;65(2):377-85. Epub 2016 May 2.

Inserm UMR 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Institut Cochin, Paris, France; Université Paris V René Descartes, Institut Cochin, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640785PMC
August 2016

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

Metab Brain Dis 2016 06 16;31(3):717-21. Epub 2016 Jan 16.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11011-016-9793-2DOI Listing
June 2016

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

J Med Genet 2016 Apr 18;53(4):270-8. Epub 2016 Jan 18.

Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103500DOI Listing
April 2016

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

Eur J Hum Genet 2016 Mar 17;24(3):450-4. Epub 2015 Jun 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755375PMC
March 2016

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.

Neurogenetics 2015 Oct 24;16(4):319-23. Epub 2015 Mar 24.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s10048-015-0444-2DOI Listing
October 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

Neurogenetics 2015 Jul 10;16(3):237-40. Epub 2015 Feb 10.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1007/s10048-015-0440-6DOI Listing
July 2015

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

J Inherit Metab Dis 2015 May 20;38(3):391-403. Epub 2014 Dec 20.

Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9787-3DOI Listing
May 2015

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Am J Hum Genet 2014 Dec 20;95(6):689-97. Epub 2014 Nov 20.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2014.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259973PMC
December 2014

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Brain 2014 Sep 30;137(Pt 9):e295. Epub 2014 May 30.

4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany

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http://dx.doi.org/10.1093/brain/awu128DOI Listing
September 2014

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Acta Neuropathol 2014 Sep 5;128(3):397-410. Epub 2014 Jun 5.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-014-1298-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131163PMC
September 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014