Publications by authors named "Tobias Haack"

99Publications

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Clin Epigenetics 2020 Oct 19;12(1):152. Epub 2020 Oct 19.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1186/s13148-020-00945-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574352PMC
October 2020

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

Eur J Med Genet 2020 Nov 26;63(11):104046. Epub 2020 Aug 26.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2020.104046DOI Listing
November 2020

-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

Neurol Genet 2020 Oct 4;6(5):e500. Epub 2020 Aug 4.

Friedrich-Baur-Institute (C.M.N., C.B.C., T.K.), Department of Neurology, University Hospital, LMU Munich, Germany; Institute of Human Genetics (C.M.N.), University Medical Center Göttingen, Germany; Department of Pediatrics (H.S.), Medical Genetics, Dr. von Haunersches Kinderspital, University Hospital, LMU Munich, Germany; Department of Neuroradiology (K.S.), University Hospital, LMU Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technical University Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Helmholtz Zentrum München, Neuherberg, Germany; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich, Germany; and Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413627PMC
October 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Neurol Genet 2020 Jun 11;6(3):e425. Epub 2020 May 11.

Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238899PMC
June 2020

Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa.

Mov Disord 2020 07 18;35(7):1280-1282. Epub 2020 May 18.

Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1002/mds.28106DOI Listing
July 2020

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

Eur J Med Genet 2020 Jul 28;63(7):103938. Epub 2020 Apr 28.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103938DOI Listing
July 2020

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

Parkinsonism Relat Disord 2020 Apr 9. Epub 2020 Apr 9.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.030DOI Listing
April 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

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

variants in cause sporadic early-onset progressive sensorimotor neuropathy.

J Med Genet 2020 04 22;57(4):283-288. Epub 2019 Aug 22.

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

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http://dx.doi.org/10.1136/jmedgenet-2019-106273DOI Listing
April 2020

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

Am J Hum Genet 2019 06 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 03;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

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

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

Clin Genet 2019 06 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

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

Parkinsonism Relat Disord 2019 05 29;62:215-220. Epub 2018 Nov 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.11.027DOI Listing
May 2019

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

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Klin Padiatr 2018 09 18;230(5):281-283. Epub 2018 Jun 18.

Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.

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http://dx.doi.org/10.1055/a-0605-3659DOI Listing
September 2018

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 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