Thomas Klopstock

Thomas Klopstock

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Thomas Klopstock

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[Leber's Hereditary Optic Neuropathy].

Klin Monbl Augenheilkd 2019 Nov 22;236(11):1271-1282. Epub 2019 Oct 22.

Augenklinik, Klinikum der Ludwig-Maximilians-Universität München.

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http://dx.doi.org/10.1055/a-0972-1552DOI Listing
November 2019

Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.

Neuropediatrics 2019 Jul 24. Epub 2019 Jul 24.

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

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http://dx.doi.org/10.1055/s-0039-1693150DOI Listing
July 2019

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Neurology 2019 Jun 8;92(23):e2679-e2690. Epub 2019 May 8.

From Sorbonne Université (G.C., C.E., B.F., M.-L.M., F.M., M.P., C.-S.D., G.S., A.D.), Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière; Department of Genetics (G.C., C.E., M.-L.M., P.C., F.M., G.B., G.S., A.D.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, Paris, France; Center for Neurology and Hertie Institute for Clinical Brain Research (R.S., M.S., L.S.), University of Tübingen, German Center for Neurodegenerative Diseases; German Center for Neurodegenerative Diseases (R.S., M.S., L.S.), Tübingen; Department of Neurology (B.P.C.v.d.W., E.G.H.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neurogenetics Group (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), University of Antwerp; Laboratories of Neurogenetics and Neuromuscular Pathology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Institute Born-Bunge, University of Antwerp; Department of Neurology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Antwerp University Hospital, Belgium; Scientific Institute IRCCS "E. Medea" (A.M.), Conegliano, Italy; Department of Neurology (M.A.), Hôpital de Hautepierre, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (M.A.), Université de Strasbourg; Department of Neurology (B.F.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France; Department of Neurology (T. Klockgether, D.K.), University of Bonn; German Center for Neurodegenerative Diseases (T. Klockgether, D.K.), Bonn; Scientific Institute IRCCS E. Medea Neurorehabilitation Unit (M.G.D.), Bosisio Parini, Lecco, Italy; ULB Center of Human Genetics (I.M.), Brussels, Belgium; Scientific Institute IRCCS E. Medea Laboratory of Molecular Biology (M.T.B.), Bosisio Parini, Lecco, Italy; Department of Neurology With Friedrich-Baur Institute (T. Klopstock), University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (T. Klopstock); Munich Cluster for Systems Neurology (T. Klopstock), Germany; Department of Genetics (E.O.-R.), Croix-Rousse University Hospital, Lyon, France; Department of Neurology (C.K.), University of Rostock, Germany; Ecole Pratique des Hautes Etudes (M.P., G.S.), PSL Research University; Sorbonne Université (S.T.d.M.), INSERM, Institut Pierre Louis de Santé Publique, Medical Information Unit, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris; and Raymond Escourolle Neuropathology Department (D.S., C.D.), Pitié-Salpêtrière University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France.

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http://dx.doi.org/10.1212/WNL.0000000000007606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556095PMC
June 2019

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Hum Mutat 2019 05 4;40(5):499-515. Epub 2019 Mar 4.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506718PMC
May 2019

Charles Bonnet syndrome in Leber's hereditary optic neuropathy.

J Neurol 2019 Mar 28;266(3):777-779. Epub 2019 Jan 28.

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

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http://dx.doi.org/10.1007/s00415-019-09205-3DOI Listing
March 2019

[Mitochondrial diseases].

Nervenarzt 2019 Feb;90(2):121-130

Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, Klinikum der Universität München, Ziemssenstr. 1, 80336, München, Deutschland.

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http://dx.doi.org/10.1007/s00115-018-0666-2DOI Listing
February 2019

Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic.

Behav Brain Res 2018 10 29;352:187-196. Epub 2017 Sep 29.

German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter-Landstr. 1, 85764 Neuherberg, Germany; German Center for Diabetes Research (DZD), Ingolstädter-Landstr. 1, 85764 Neuherberg, Germany; Chair of Experimental Genetics, School of Life Science Weihenstephan, Technische Universität München, Alte Akademie 8, 85354 Freising, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbr.2017.09.048DOI Listing
October 2018

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Mitochondrion 2018 09 18;42:1-10. Epub 2017 Oct 18.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.10.003DOI Listing
September 2018

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Neurology 2018 09 10;91(10):e917-e930. Epub 2018 Aug 10.

From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000006121DOI Listing
September 2018

[Diagnostic and Therapeutic Approaches for Mitochondrial Diseases].

Fortschr Neurol Psychiatr 2018 09 24;86(9):584-591. Epub 2018 Sep 24.

Ludwig-Maximilians-Universität München, Friedrich- Baur-Institut der Neurologischen Klinik.

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http://dx.doi.org/10.1055/a-0621-9255DOI Listing
September 2018

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

J Neurol 2018 Feb 19;265(2):388-393. Epub 2017 Dec 19.

Department of Neurology with Friedrich-Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-017-8711-9DOI Listing
February 2018

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

J Neuroophthalmol 2017 12;37(4):371-381

IRCCS Institute of Neurological Sciences of Bologna (VC, MC, CLM), Bellaria Hospital, Bologna, Italy; Unit of Neurology (VC, CLM), Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; Department of Neurology (IFdC), Erasmus Medical Center, Rotterdam, the Netherlands; Neuro-Ophthalmology Unit (AK), University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland; Department of Neurology (TK), Friedreich-Baur-Institute, Ludwing-Maximilians-University, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy) (TK), Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) (TK), Munich, Germany; Eye Center (WAL), Medical Center, Faculty of Medicine, University of Freiburg, Breisgau, Germany; Departments of Ophthalmology, Neurology and Neurological Surgery (NJN), Emory University School of Medicine, Atlanta, Georgia; Department of Ophthalmology (CO); Referral Center for Rare Diseases OPHTARA, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France; Department of Ophthalmology (JWRP), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Doheny Eye Institute (AAS), Los Angeles, California; Department of Ophthalmology (AAS), David Geffen School of Medicine at UCLA, Los Angeles, California; Department of Neuro-ophthalmology (JvE), The Rotterdam Eye Hospital, Rotterdam, the Netherlands; Rotterdam Ophthalmic Institute (ROI) (JvE), Rotterdam, the Netherlands; Fondation Ophtalmologique Adolphe de Rothschild (CV-C), Paris, France; School of Optometry and Vision Sciences (MV), Cardiff University, and Cardiff Eye Clinic, University Hospital of Wales, Cardiff, United Kingdom; Wellcome Trust Center for Mitochondrial Research (PY-W-M), Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom; Newcastle Eye Center (PY-W-M), Royal Victoria Infirmary, Newcastle Upon Tyne, United Kingdom; NIHR Biomedical Research Center at Moorfields Eye Hospital and UCL Institute of Ophthalmology (PY-W-M), London, United Kingdom; Department of Clinical Neurosciences (PY-W-M), School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom; Department of Ophthalmology (PB), San Raffaele Scientific Institute, Milan, Italy; and Studio Oculistico d'Azeglio (PB), Bologna, Italy.

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http://dx.doi.org/10.1097/WNO.0000000000000570DOI Listing
December 2017

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.

Neuromuscul Disord 2017 12 8;27(12):1126-1137. Epub 2017 Sep 8.

Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1016/j.nmd.2017.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094160PMC
December 2017

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Mitochondrion 2017 09 6;36:15-20. Epub 2016 Oct 6.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany; DZNE-German Center for Neurodegenerative Diseases, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.002DOI Listing
September 2017

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Neurology 2017 Sep 9;89(10):1043-1049. Epub 2017 Aug 9.

From the Department of Neurology (I.G., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G., H.J., B.P., T.K.), Bonn; Institute of Medical Genetics and Applied Genomics (F.H., M.S.) and Department of Neurodegenerative Diseases (L.S., M.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (H.J.), Heidelberg University Hospital; Department of Neurology (S.V.), Otto-von-Guericke University Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (S.V., J.M.), Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (L.S., M.S.), Tübingen, Germany; Department of Neurology (C.T., I.M.W.), Oslo University Hospital; Faculty of Medicine (C.T.), Institute of Clinical Medicine, University of Oslo, Norway; Department of Neurology (S.B., A.E.), Medical University Innsbruck, Austria; Department of Neurology (B.v.d.W., J.v.G.), Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology (C.K., A.D.), University of Rostock; German Center for Neurodegenerative Diseases (DZNE) (C.K., A.D.), Rostock; Department of Neurology (J.-S.K.), University of Frankfurt; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Germany; Institute of Neurology (G.S.), Catholic University of Sacred Heart; SPInal REhabilitation Lab (SPIRE) (M.M.), Fondazione Santa Lucia, IRCCS, Rome, Italy; Department of Neurology (T.K., C.N.), Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K., C.N.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich; Department of Neurology (C.G.), University Medical Center Hamburg-Eppendorf (UKE), Germany; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University, Naples, Italy; Centogene AG (P.B.), Rostock, Germany; Pierre Louis Institute of Epidemiology and Public Health (S.T.d.M.), Pierre and Marie Curie University (UPMC); and AP-HP (S.T.d.M.), Biostatistics Unit, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000004311DOI Listing
September 2017

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Neuromuscul Disord 2017 May 14;27(5):473-476. Epub 2017 Feb 14.

Department of Neurology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.005DOI Listing
May 2017

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Mol Genet Metab 2017 03 27;120(3):278-287. Epub 2016 Dec 27.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA; Department of Neurology, Oregon Health & Science University, Portland, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.11.004DOI Listing
March 2017

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

J Neurol 2017 Mar 4;264(3):578-582. Epub 2017 Jan 4.

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

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http://dx.doi.org/10.1007/s00415-016-8387-6DOI Listing
March 2017

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Lancet Neurol 2016 Dec;15(13):1346-1354

Department of Neurology, RWTH Aachen University, Aachen, Germany; JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30287-3DOI Listing
December 2016

Mitochondrial replacement approaches: challenges for clinical implementation.

Genome Med 2016 11 25;8(1):126. Epub 2016 Nov 25.

Institute of Human Genetics, Technical University Munich, Munich, 81675, Germany.

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http://dx.doi.org/10.1186/s13073-016-0380-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124262PMC
November 2016

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9948-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987390PMC
September 2016

Creatine for neuroprotection in neurodegenerative disease: end of story?

Amino Acids 2016 08 9;48(8):1929-40. Epub 2016 Jan 9.

Department of Neurology with Friedrich-Baur-Institute, University of Munich, Marchioninistr. 15, 81377, Munich, Germany.

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http://dx.doi.org/10.1007/s00726-015-2165-0DOI Listing
August 2016

Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.

Hum Mutat 2016 08 13;37(8):765-75. Epub 2016 May 13.

Department of Genetics/Epigenetics, Saarland University, Saarbrücken, Germany.

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http://dx.doi.org/10.1002/humu.23003DOI Listing
August 2016

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955273PMC
July 2016

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Brain 2016 Mar 10;139(Pt 3):e18. Epub 2015 Dec 10.

1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK 6 Medical Research Council Mitochondrial Biology Unit, Cambridge, UK 7 Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, UK

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http://dx.doi.org/10.1093/brain/awv340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839597PMC
March 2016

Life span extension by targeting a link between metabolism and histone acetylation in Drosophila.

EMBO Rep 2016 Mar 18;17(3):455-69. Epub 2016 Jan 18.

Department of Physiological Chemistry, Biomedical Center and Center for Integrated Protein Science Munich, Ludwig-Maximilians University, Planegg-Martinsried, Germany Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

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http://dx.doi.org/10.15252/embr.201541132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772992PMC
March 2016

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

J Neurol 2015 11;262(4):1072-3. Epub 2015 Apr 11.

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

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http://dx.doi.org/10.1007/s00415-015-7729-0DOI Listing
January 2016

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.

Hum Mol Genet 2015 Dec 12;24(25):7286-94. Epub 2015 Oct 12.

Department of Laboratory Medicine, Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden, Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany

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http://dx.doi.org/10.1093/hmg/ddv427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664167PMC
December 2015

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.

PLoS One 2014 15;9(12):e114918. Epub 2014 Dec 15.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany; German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; German Center for Vertigo and Balance Disorders, Munich, Germany; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.

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http://pubman.mpdl.mpg.de/pubman/item/escidoc:2147508:2/comp
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http://dx.plos.org/10.1371/journal.pone.0114918
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114918PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266617PMC
November 2015

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

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

J Neurol Neurosurg Psychiatry 2015 Sep 4;86(9):986-95. Epub 2014 Dec 4.

Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France AP-HP, Groupe Hospitalier Pitié-Salpêtriére, Departement of Genetics and Cytogenetics, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2014-309153DOI Listing
September 2015

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

Authors:
Martin Hrabě de Angelis George Nicholson Mohammed Selloum Jacqui White Hugh Morgan Ramiro Ramirez-Solis Tania Sorg Sara Wells Helmut Fuchs Martin Fray David J Adams Niels C Adams Thure Adler Antonio Aguilar-Pimentel Dalila Ali-Hadji Gregory Amann Philippe André Sarah Atkins Aurelie Auburtin Abdel Ayadi Julien Becker Lore Becker Elodie Bedu Raffi Bekeredjian Marie-Christine Birling Andrew Blake Joanna Bottomley Mike Bowl Véronique Brault Dirk H Busch James N Bussell Julia Calzada-Wack Heather Cater Marie-France Champy Philippe Charles Claire Chevalier Francesco Chiani Gemma F Codner Roy Combe Roger Cox Emilie Dalloneau André Dierich Armida Di Fenza Brendan Doe Arnaud Duchon Oliver Eickelberg Chris T Esapa Lahcen El Fertak Tanja Feigel Irina Emelyanova Jeanne Estabel Jack Favor Ann Flenniken Alessia Gambadoro Lilian Garrett Hilary Gates Anna-Karin Gerdin George Gkoutos Simon Greenaway Lisa Glasl Patrice Goetz Isabelle Goncalves Da Cruz Alexander Götz Jochen Graw Alain Guimond Wolfgang Hans Geoff Hicks Sabine M Hölter Heinz Höfler John M Hancock Robert Hoehndorf Tertius Hough Richard Houghton Anja Hurt Boris Ivandic Hughes Jacobs Sylvie Jacquot Nora Jones Natasha A Karp Hugo A Katus Sharon Kitchen Tanja Klein-Rodewald Martin Klingenspor Thomas Klopstock Valerie Lalanne Sophie Leblanc Christoph Lengger Elise le Marchand Tonia Ludwig Aline Lux Colin McKerlie Holger Maier Jean-Louis Mandel Susan Marschall Manuel Mark David G Melvin Hamid Meziane Kateryna Micklich Christophe Mittelhauser Laurent Monassier David Moulaert Stéphanie Muller Beatrix Naton Frauke Neff Patrick M Nolan Lauryl Mj Nutter Markus Ollert Guillaume Pavlovic Natalia S Pellegata Emilie Peter Benoit Petit-Demoulière Amanda Pickard Christine Podrini Paul Potter Laurent Pouilly Oliver Puk David Richardson Stephane Rousseau Leticia Quintanilla-Fend Mohamed M Quwailid Ildiko Racz Birgit Rathkolb Fabrice Riet Janet Rossant Michel Roux Jan Rozman Ed Ryder Jennifer Salisbury Luis Santos Karl-Heinz Schäble Evelyn Schiller Anja Schrewe Holger Schulz Ralf Steinkamp Michelle Simon Michelle Stewart Claudia Stöger Tobias Stöger Minxuan Sun David Sunter Lydia Teboul Isabelle Tilly Glauco P Tocchini-Valentini Monica Tost Irina Treise Laurent Vasseur Emilie Velot Daniela Vogt-Weisenhorn Christelle Wagner Alison Walling Bruno Weber Olivia Wendling Henrik Westerberg Monja Willershäuser Eckhard Wolf Anne Wolter Joe Wood Wolfgang Wurst Ali Önder Yildirim Ramona Zeh Andreas Zimmer Annemarie Zimprich Chris Holmes Karen P Steel Yann Herault Valérie Gailus-Durner Ann-Marie Mallon Steve Dm Brown

Nat Genet 2015 Sep 27;47(9):969-978. Epub 2015 Jul 27.

MRC Harwell, Medical Research Council, Harwell, UK.

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http://dx.doi.org/10.1038/ng.3360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564951PMC
September 2015

MiR-34a deficiency accelerates medulloblastoma formation in vivo.

Int J Cancer 2015 May 25;136(10):2293-303. Epub 2014 Nov 25.

Department of Pediatric Oncology and Hematology, University Children's Hospital Essen, Hufelandstr. 55 45147, Essen, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; German Cancer Research Center (DKFZ), D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ijc.29294DOI Listing
May 2015

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

J Neurol 2015 Mar 9;262(3):768-70. Epub 2015 Jan 9.

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

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http://dx.doi.org/10.1007/s00415-015-7636-4DOI Listing
March 2015

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Lancet Neurol 2015 Feb 5;14(2):174-82. Epub 2015 Jan 5.

Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70321-7DOI Listing
February 2015

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

Front Physiol 2014 15;5:525. Epub 2015 Jan 15.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany ; German Network for Mitochondrial Disorders (mitoNET) Ludwigshafen, Germany ; DZNE - German Center for Neurodegenerative Diseases Munich, Germany ; German Center for Vertigo and Balance Disorders Munich, Germany.

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http://dx.doi.org/10.3389/fphys.2014.00525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295438PMC
February 2015

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Int Rev Neurobiol 2013 ;110:73-84

Institute of Human Genetics, Technische Universität München, Munich, Germany; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.

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http://dx.doi.org/10.1016/B978-0-12-410502-7.00004-1DOI Listing
July 2014

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

Neurobiol Aging 2014 May 29;35(5):1212.e1-5. Epub 2013 Oct 29.

Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Bavaria, Germany.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.10.092DOI Listing
May 2014

Genetic evidence for the adhesion protein IgSF9/Dasm1 to regulate inhibitory synapse development independent of its intracellular domain.

J Neurosci 2014 Mar;34(12):4187-99

Department of Molecules-Signaling-Development and Synaptic Receptor Trafficking Group, Max Planck Institute of Neurobiology, D-82152 Martinsried, Germany, German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, D-85764 Neuherberg, Germany, Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, D-80336 Munich, Germany, Munich Cluster for Systems Neurology (SyNergy), D-80336 Munich, Germany, and Department of Physiology II, University of Bonn, D-53115 Bonn, Germany.

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http://dx.doi.org/10.1523/JNEUROSCI.3671-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608096PMC
March 2014

Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series.

J Neurol 2013 Oct 9;260(10):2556-61. Epub 2013 Jul 9.

Department of Neurology, University Hospital Munich and German Center for Vertigo and Balance Disorders, Campus Grosshadern, Marchioninistrasse 15, 81377, Munich, Germany,

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http://dx.doi.org/10.1007/s00415-013-7016-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824630PMC
October 2013

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013