Publications by authors named "Ludger Schols"

97Publications

Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Orphanet J Rare Dis 2020 09 10;15(1):243. Epub 2020 Sep 10.

Department of Child Neurology, Children's Hospital, University of Tübingen, Hoppe-Seyler-Str. 1, 72072, Tübingen, Germany.

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http://dx.doi.org/10.1186/s13023-020-01489-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488349PMC
September 2020

Real-life gait assessment in degenerative cerebellar ataxia: Toward ecologically valid biomarkers.

Neurology 2020 Sep 1;95(9):e1199-e1210. Epub 2020 Jul 1.

From the Departments of Cognitive Neurology (W.I., J.S., M.G.) and Neurodegeneration (A.T., L.S.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (W.I., J.S., M.G.); German Research Center for Neurodegenerative Diseases (DZNE) (A.T., L.S., M.S.), Tübingen; and Department of Neurology (D.T.), University of Duisburg-Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010176DOI Listing
September 2020

Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis.

Clin Neurophysiol 2020 Aug 21;131(8):1798-1803. Epub 2020 May 21.

Center of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.clinph.2020.04.162DOI Listing
August 2020

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Parkinsonism Relat Disord 2020 05 28;74:6-11. Epub 2020 Mar 28.

Department of Neurology and Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.021DOI Listing
May 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

NfL and pNfH are increased in Friedreich's ataxia.

J Neurol 2020 May 30;267(5):1420-1430. Epub 2020 Jan 30.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s00415-020-09722-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184046PMC
May 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).

J Neurol 2020 Feb 23;267(2):369-379. Epub 2019 Oct 23.

Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00415-019-09573-wDOI Listing
February 2020

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Neurology 2019 08 23;93(7):e647-e652. Epub 2019 Jul 23.

From the Department of Neurology, Reference Center for Lysosomal Diseases, UF Neuro-Genetics and Metabolism (L.C., R.D., Y.N.), and Department of Neuroradiology (B.L.-Y., N.P., D.L.), Pitié-Salpêtrière Hospital, Paris; Service de Biochimie et Biologie Moléculaire Grand Est (R.F., M.P.), Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron; UMR 5305 CNRS/UCBL (R.F.), Lyon, France; Department of Medicine, Surgery and Neurosciences (A.F., S.S.), Unit of Neurology and Neurometabolic Diseases, Medical School, University of Siena; Neuroradiology Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Siena, Italy; Department of Neurology (M.C.M., J.D.), Coimbra Hospital and University Centre, Portugal; Department of Neurology (S.H.K.), College of Medicine, Hanyang University, Seoul, Korea; Division of Neurology (H.A.), Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan; Department of Neurology (B.A.), La Timone Hospital; Aix-Marseille University (B.A.), CNRS, CRMBM UMR, Marseille; Department of Neurology (X.A.), Montpellier University Hospital, France; Department of Neurology (Y.D.), Xuan Wu Hospital, Capital Medical University, Beijing, China; Department of Neurology (R.H.), Royal Brisbane Hospital, Brisbane, Australia; Laboratory of Neurogenetics of Motion and Department of Neuroradiology (R.L.P.), Montréal Neurological Institute and Hospital, McGill University, Montréal; Department of Radiology (C.L.), Department of Pathology and Laboratory Medicine (C.L.), International Collaboration on Repair Discoveries (ICORD) (C.L.), Department of Physics and Astronomy (C.L.), and Division of Endocrinology, Department of Medicine (S.M.S.), University of British Columbia, Vancouver, Canada; Department of Neurology (K.N.), Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Eberhard-Karls-University; German Center of Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (F.V.), Caen-Normandie University Hospital, Caen; Inserm U1077 (F.V.), EPHE, Caen-Normandie University, Caen, France; and Department of Neurology and Stroke (K.J.), Medical University of Lodz, Poland.

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http://dx.doi.org/10.1212/WNL.0000000000007943DOI Listing
August 2019

Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons.

Sci Rep 2019 07 3;9(1):9615. Epub 2019 Jul 3.

Institute of Reconstructive Neurobiology, University of Bonn School of Medicine & University Hospital Bonn, 53127, Bonn, Germany.

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http://dx.doi.org/10.1038/s41598-019-45246-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610147PMC
July 2019

[Model for personalized diagnostics and treatment in neurology-German Academy for Rare Neurological Diseases].

Nervenarzt 2019 Aug;90(8):796-803

Institut für Medizinische Genetik und angewandte Genomik und Zentrum für Seltene Erkrankungen, Universitätsklinikum und Universität Tübingen, Tübingen, Deutschland.

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http://dx.doi.org/10.1007/s00115-019-0750-2DOI Listing
August 2019

Phenotypic variation between siblings with Metachromatic Leukodystrophy.

Orphanet J Rare Dis 2019 06 11;14(1):136. Epub 2019 Jun 11.

Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1113-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560893PMC
June 2019

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

Neurology 2019 06 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

Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

Acta Neurol Scand 2019 Jun 8;139(6):533-539. Epub 2019 Apr 8.

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1111/ane.13088DOI Listing
June 2019

Real-time use of audio-biofeedback can improve postural sway in patients with degenerative ataxia.

Ann Clin Transl Neurol 2019 02 28;6(2):285-294. Epub 2018 Nov 28.

Department of Cognitive Neurology Hertie Institute for Clinical Brain Research Tübingen Germany.

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http://dx.doi.org/10.1002/acn3.699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389757PMC
February 2019

Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS.

J Neurol 2019 May 6;266(5):1260-1266. Epub 2019 Mar 6.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Germany and Center for Neurology, University of Tübingen, University Hospital Tübingen, Tübingen, Germany.

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http://link.springer.com/10.1007/s00415-019-09258-4
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http://dx.doi.org/10.1007/s00415-019-09258-4DOI Listing
May 2019

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Neuron 2019 02;101(4):560-583

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2019.01.049DOI Listing
February 2019

Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template.

Cerebellum 2019 Jun;18(3):435-447

Department of Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls University, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s12311-019-1008-zDOI Listing
June 2019

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Graefes Arch Clin Exp Ophthalmol 2019 Mar 17;257(3):629-638. Epub 2019 Jan 17.

Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard Karls University Tuebingen, Tuebingen, Germany.

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http://link.springer.com/10.1007/s00417-018-04233-7
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http://dx.doi.org/10.1007/s00417-018-04233-7DOI Listing
March 2019

Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.

Stem Cell Res 2019 01 21;34:101378. Epub 2018 Dec 21.

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.101378DOI Listing
January 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

A previously identified missense mutation in STYXL1 is likely benign.

Eur J Med Genet 2019 Nov 22;62(11):103582. Epub 2018 Nov 22.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.11.016DOI Listing
November 2019

A previously identified missense mutation in STYXL1 is likely benign.

Eur J Med Genet 2019 Nov 22;62(11):103582. Epub 2018 Nov 22.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.11.016DOI Listing
November 2019

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Orphanet J Rare Dis 2018 11 3;13(1):194. Epub 2018 Nov 3.

Center for Neurology, and Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0939-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215661PMC
November 2018

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Parkinsonism Relat Disord 2019 03 29;60:176-178. Epub 2018 Sep 29.

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

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183042
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http://dx.doi.org/10.1016/j.parkreldis.2018.09.031DOI Listing
March 2019

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Neurology 2018 10 14;91(16):755-757. Epub 2018 Sep 14.

From the Department of Neurodegenerative Diseases (S.N.H., L.S.), Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE) (S.N.H., L.S.), Tübingen, Germany; Institute of Human Genetics (I.K., F.R., J.R.L.), University of Leipzig, Germany; Neurologic Clinic and Policlinic, Departments of Medicine, Biomedicine and Clinical Research (C.B., J.K.), University Hospital Basel, University of Basel, Switzerland; and Department of Neurology (P.K.), University of Magdeburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006357DOI Listing
October 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

Serum neurofilament light chain is increased in hereditary spastic paraplegias.

Ann Clin Transl Neurol 2018 Jul 21;5(7):876-882. Epub 2018 May 21.

Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology University of Tübingen Hoppe-Seyler-Str. 3 72076 Tübingen Germany.

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http://dx.doi.org/10.1002/acn3.583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043776PMC
July 2018

Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.

Stem Cell Res 2018 07 20;30:206-209. Epub 2018 Jun 20.

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

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http://dx.doi.org/10.1016/j.scr.2018.06.011DOI Listing
July 2018

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

J Neurol 2018 Sep 2;265(9):2060-2070. Epub 2018 Jul 2.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00415-018-8950-4DOI Listing
September 2018

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A.

Stem Cell Res 2018 07 11;30:171-174. Epub 2018 Jun 11.

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

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http://dx.doi.org/10.1016/j.scr.2018.06.006DOI Listing
July 2018

To die or not to die SGK1-sensitive ORAI/STIM in cell survival.

Cell Calcium 2018 09 3;74:29-34. Epub 2018 May 3.

German Center for Neurodegenerative Diseases, Research Site Tübingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany.

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http://dx.doi.org/10.1016/j.ceca.2018.05.001DOI Listing
September 2018

Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study.

J Neurol 2018 Jul 8;265(7):1618-1624. Epub 2018 May 8.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00415-018-8893-9DOI Listing
July 2018

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

Stem Cell Res 2018 05 9;29:166-169. Epub 2018 Apr 9.

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.001DOI Listing
May 2018

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Neurology 2018 03 9;90(10):464-471. Epub 2018 Feb 9.

From the Department of Neurology (T.A.Z., J.D. Shaw), University of South Florida, Tampa; Department of Neurology (G.W.), Emory University, Atlanta, GA; Department of Neurology (S.-H.K.), Columbia University, New York, NY; Department of Neurology (S.P.), University of California, Los Angeles; Department of Neurology (P.E.G.), Beth Israel Deaconess Medical Center, Boston, MA; Shire (S.H.Y.), Lexington, MA, and the Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurology (T.A.), Houston Methodist Research Institute, TX; Department of Neurology (S.H.S., M.J.A.), University of Florida College of Medicine, Gainesville; Department of Neurology (J.D. Schmahmann), Massachusetts General Hospital, and Department of Neurology, Harvard Medical School, Boston, MA; Department of Neurology (K.P.F.), University of Utah, Salt Lake City; National Center of Neurology and Psychiatry (H.M.), Tokyo, Japan; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Tübingen, Germany; Department of Neurology (R.M.D., G.S.D.), University of Kansas Medical Center, Kansas City; and Jiann-Ping Hsu College of Public Health (K.L.S.), Georgia Southern University, Statesboro.

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http://dx.doi.org/10.1212/WNL.0000000000005055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863491PMC
March 2018

Case series: Slowing alpha rhythm in late-stage ALS patients.

Clin Neurophysiol 2018 02 26;129(2):406-408. Epub 2017 Nov 26.

Max Planck Institute for Intelligent Systems, Department for Empirical Inference, Max-Planck-Ring 4, 72076 Tübingen, Germany; Ludwig-Maximilians-Universität München, Department of Statistics, Ludwigstr. 33, 80539 Munich, Germany.

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http://dx.doi.org/10.1016/j.clinph.2017.11.013DOI Listing
February 2018

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

J Neurol Sci 2017 Dec 10;383:18-25. Epub 2017 Oct 10.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.10.010DOI Listing
December 2017

Neurons, Erythrocytes and Beyond -The Diverse Functions of Chorein.

Neurosignals 2017 28;25(1):117-126. Epub 2017 Nov 28.

Department of Biochemistry, University of Crete Medical School, Heraklion, Greece.

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http://dx.doi.org/10.1159/000485457DOI Listing
March 2019

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

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

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

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Hum Mutat 2017 11 6;38(11):1511-1520. Epub 2017 Sep 6.

Division of Pediatric Stem Cell Transplantation and Immunology, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/humu.23306
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http://dx.doi.org/10.1002/humu.23306DOI Listing
November 2017

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Hum Mutat 2017 11 6;38(11):1511-1520. Epub 2017 Sep 6.

Division of Pediatric Stem Cell Transplantation and Immunology, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/humu.23306
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http://dx.doi.org/10.1002/humu.23306DOI Listing
November 2017

Absence of EEG correlates of self-referential processing depth in ALS.

PLoS One 2017 29;12(6):e0180136. Epub 2017 Jun 29.

Department of Empirical Inference, Max Planck Institute for Intelligent Systems, Tübingen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0180136PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491131PMC
October 2017

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

Mitochondrion 2017 11 19;37:1-7. Epub 2017 Jun 19.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany & Center for Neurology, University Hospital Tübingen, Germany; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2017.06.002DOI Listing
November 2017

Involvement of the cerebellum in Parkinson disease and dementia with Lewy bodies.

Ann Neurol 2017 Jun 2;81(6):898-903. Epub 2017 Jun 2.

Dr. Senckenberg Chronomedical Institute, J. W. Goethe University, Frankfurt am Main, Germany.

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http://dx.doi.org/10.1002/ana.24937DOI Listing
June 2017

mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Neurol Genet 2017 Apr 22;3(2):e144. Epub 2017 Mar 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.

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http://dx.doi.org/10.1212/NXG.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363873PMC
April 2017

Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial.

Parkinsonism Relat Disord 2017 06 28;39:80-84. Epub 2017 Mar 28.

Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Centre for Integrative Neuroscience (CIN), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.03.016DOI Listing
June 2017

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Orphanet J Rare Dis 2017 02 13;12(1):31. Epub 2017 Feb 13.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1186/s13023-017-0580-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307643PMC
February 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.23161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324646PMC
March 2017

Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration.

Neurol Neuroimmunol Neuroinflamm 2017 Jan 5;4(1):e307. Epub 2016 Dec 5.

Institute of Experimental Immunology (R.M., M. Scharf, I.M.D., S.M., Y.D., B.T., C.P., S.B., W.S., L.K.), Euroimmun AG, Lübeck; Department of Neurology (C.C.G., K.S.G., M.H., U.B., A.S.-M., K.B., C.S., H.L., M.D., T.W., H.W., S.G.M., N.M.), University of Münster; Centre for Neurology and Hertie-Institute for Clinical Brain Research (L.S., M. Synofzik), Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S., M. Synofzik), Tübingen; and Institute of Clinical Chemistry and Department of Neurology (K.-P.W.), University Hospital of Schleswig-Holstein, Lübeck, Germany.

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http://dx.doi.org/10.1212/NXI.0000000000000307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141526PMC
January 2017

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

Stem Cell Res 2016 09 18;17(2):437-440. Epub 2016 Sep 18.

German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1016/j.scr.2016.09.011DOI Listing
September 2016

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.

Stem Cell Res 2016 09 17;17(2):433-436. Epub 2016 Sep 17.

Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.

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http://dx.doi.org/10.1016/j.scr.2016.09.010DOI Listing
September 2016

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Stem Cell Res 2016 09 17;17(2):426-429. Epub 2016 Sep 17.

German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1016/j.scr.2016.09.012DOI Listing
September 2016

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).

Stem Cell Res 2016 09 17;17(2):422-425. Epub 2016 Sep 17.

German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2016.09.013DOI Listing
September 2016

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

Mol Ther Nucleic Acids 2016 Nov 22;5(11):e390. Epub 2016 Nov 22.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1038/mtna.2016.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155325PMC
November 2016

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

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Front Mol Neurosci 2016 13;9:92. Epub 2016 Oct 13.

CeGaT GmbH, Center for Genomics and TranscriptomicsTübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of TübingenTübingen, Germany.

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http://dx.doi.org/10.3389/fnmol.2016.00092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061735PMC
October 2016

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.

Stem Cell Res 2016 11 26;17(3):485-488. Epub 2016 Sep 26.

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

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http://dx.doi.org/10.1016/j.scr.2016.09.022DOI Listing
November 2016

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Mov Disord 2016 12 26;31(12):1891-1900. Epub 2016 Oct 26.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, Tübingen, Germany.

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http://dx.doi.org/10.1002/mds.26835DOI Listing
December 2016

Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: New Clues in Sporadic Cases.

Authors:
Ludger Schöls

JAMA Neurol 2016 12;73(12):1400-1401

Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany2German Center of Neurodegenerative Disease, Tübingen, Germany.

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http://dx.doi.org/10.1001/jamaneurol.2016.2940DOI Listing
December 2016

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Neurol Genet 2016 Oct 25;2(5):e98. Epub 2016 Aug 25.

Cambridge Institute for Medical Research (J.H., J.R.E.), University of Cambridge, Addenbrooke's Hospital, UK; Children's Health Research Center (M.M., A.Y.), Cancer Biology Research Center, Sanford Research, Sioux Falls; Neurogenetics Group (K.S., T.D., J.B., P.D.J.), Department of Molecular Genetics VIB, Antwerp, Belgium; Department of Neurology (K.S., J.B., P.D.J.), Antwerp University Hospital, Belgium; Laboratories of Neurogenetics and Neuropathology (K.S., T.D., J.B., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (L.S., J. Liepert), Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (J. Li), Vanderbilt University, Nashville, TN; Department of Ophthalmology (E.V.A.), Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; National Eye Institute (M.B.D.), National Institutes of Health, Bethesda, MD; Cell Biology Section (R.H.R., C.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology (R.H.R.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurorehabilitation (J. Liepert), Kliniken Schmieder, Allensbach, Germany; Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL; Genetics of Neurodegenerative and Metabolic Diseases Unit (C.M.), IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy; Departments of Child Health, Neurology & Genetics (M.C.K.), University of Arizona College of Medicine, Phoenix; Program in Neuroscience (M.C.K.), Arizona State University, Tempe; and Pediatric Movement Disorders Program and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001803PMC
October 2016

Thickening of the peripheral nerves in metachromatic leukodystrophy.

J Neurol Sci 2016 Sep 14;368:399-401. Epub 2016 Jul 14.

Department of Pediatric Neurology, University Medical Center Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.jns.2016.07.030DOI Listing
September 2016

Inducing Differentiation of Premalignant Hepatic Cells as a Novel Therapeutic Strategy in Hepatocarcinoma.

Cancer Res 2016 09 3;76(18):5550-61. Epub 2016 Aug 3.

Department of Internal Medicine I, University Hospital Tuebingen, Tuebingen, Germany. Department for Clinical Pharmacology, University Hospital Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1158/0008-5472.CAN-15-3453DOI Listing
September 2016

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

Neurology 2016 Jul 17;87(2):186-91. Epub 2016 Jun 17.

From the Institute of Medical Genetics and Applied Genomics (A.S.S., S.B.-W., K.S., O.R., P.B.) and Department of Neurology and Hertie Institute for Clinical Brain Research (T.W.R., R.S., L.S.), University of Tübingen; German Center of Neurodegenerative Diseases (DZNE) (T.W.R., R.S.), Tübingen, Germany; Imprinting and Cancer Group (D.M.), Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain; Department of Neuropediatrics (M.D.-N.), Tübingen University School of Medicine; CeGaT GmbH (K.H.), Tübingen, Germany; Neurometabolic Diseases Laboratory (A.S., M.R., A.P.), Institut d'Investigació Biomedica de Bellvitge IDIBELL, Hospital Duran i Reynals, Barcelona; Centre for Biomedical Research on Rare Diseases (CIBERER) (A.S., M.R., A.P.), Institute Carlos III, Madrid; Catalan Institution for Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain; and Hussman Institute for Human Genomics (S.Z., R.S.), University of Miami Miller School of Medicine, FL.

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http://dx.doi.org/10.1212/WNL.0000000000002843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940069PMC
July 2016