Matthis Synofzik

Matthis Synofzik

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Matthis Synofzik

Matthis Synofzik

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Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches.

Clin Chem Lab Med 2019 Sep;57(10):1556-1564

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

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http://dx.doi.org/10.1515/cclm-2019-0015DOI Listing
September 2019

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Cerebellum 2019 Aug;18(4):807-812

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

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http://dx.doi.org/10.1007/s12311-019-01028-2DOI Listing
August 2019

The motor band sign in ALS: presentations and frequencies in a consecutive series of ALS patients.

J Neurol Sci 2019 Aug 30;406:116440. Epub 2019 Aug 30.

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

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X193037
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http://dx.doi.org/10.1016/j.jns.2019.116440DOI Listing
August 2019

Fall Risk in Relation to Individual Physical Activity Exposure in Patients with Different Neurodegenerative Diseases: a Pilot Study.

Cerebellum 2019 Jun;18(3):340-348

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s12311-018-1002-xDOI Listing
June 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 Jun 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 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

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

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

Parkinsonism Relat Disord 2019 May 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

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

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

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.

J Neurol 2019 Mar 7;266(3):775-776. Epub 2019 Jan 7.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

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http://link.springer.com/10.1007/s00415-019-09182-7
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http://dx.doi.org/10.1007/s00415-019-09182-7DOI Listing
March 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

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

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

Recessive ataxias.

Handb Clin Neurol 2018 ;155:73-89

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00005-6DOI Listing
October 2018

Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.

Parkinsonism Relat Disord 2018 10 6;55:145-147. Epub 2018 Jun 6.

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), University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.06.006DOI Listing
October 2018

Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Arch Phys Med Rehabil 2018 09 17;99(9):1747-1754. Epub 2018 Feb 17.

Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires, Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, QC, Canada.

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http://dx.doi.org/10.1016/j.apmr.2018.01.026DOI Listing
September 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

Validation and Psychometric Properties of the German Version of the SWAL-QOL.

Dysphagia 2018 08 8;33(4):431-440. Epub 2018 Jan 8.

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

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http://dx.doi.org/10.1007/s00455-017-9872-5DOI Listing
August 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

The genetic nomenclature of recessive cerebellar ataxias.

Mov Disord 2018 07 14;33(7):1056-1076. Epub 2018 May 14.

Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mds.27415DOI Listing
July 2018

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.

J Neurol Sci 2018 07 30;390:4-9. Epub 2018 Mar 30.

Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Québec, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.03.033DOI Listing
July 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

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 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

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Neurobiol Aging 2018 02 24;62:244.e9-244.e13. Epub 2017 Oct 24.

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.neurobiolaging.2017.10.010DOI Listing
February 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

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

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Ann Neurol 2017 Dec 21;82(6):892-899. Epub 2017 Nov 21.

Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/ana.25084DOI Listing
December 2017

Periodic EEG patterns in sporadic Creutzfeld-Jakob-Disease can be benzodiazepine-responsive and be difficult to distinguish from non-convulsive status epilepticus.

Seizure 2017 Dec 4;53:47-50. Epub 2017 Nov 4.

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

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http://dx.doi.org/10.1016/j.seizure.2017.10.023DOI Listing
December 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

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

Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based Study.

Neurodegener Dis 2016 21;16(5-6):317-23. Epub 2016 May 21.

Department of Clinical Gerontology, Robert Bosch Hospital, Stuttgart, Germany.

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http://dx.doi.org/10.1159/000444802DOI Listing
September 2017

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.

Neurodegener Dis 2017 20;17(2-3):83-88. Epub 2016 Oct 20.

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

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http://dx.doi.org/10.1159/000448896DOI 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

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

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

Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment.

J Neurol 2017 Jun 3;264(6):1107-1117. Epub 2017 May 3.

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

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http://dx.doi.org/10.1007/s00415-017-8499-7DOI Listing
June 2017

Voice in Friedreich Ataxia.

J Voice 2017 Mar 5;31(2):243.e9-243.e19. Epub 2016 Aug 5.

Department of Audiology & Speech Pathology, Bloomsburg University of Pennsylvania, Bloomsburg, Pennsylvania.

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https://linkinghub.elsevier.com/retrieve/pii/S08921997163001
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http://dx.doi.org/10.1016/j.jvoice.2016.04.015DOI Listing
March 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

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

Mov Disord 2017 03 14;32(3):332-345. Epub 2017 Feb 14.

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

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http://dx.doi.org/10.1002/mds.26944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287914PMC
March 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

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

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

Moving Beyond Syndromic Classifications in Neurodegenerative Disease: The Example of PLA2G6.

Mov Disord Clin Pract 2017 Jan-Feb;4(1):8-11. Epub 2016 Dec 10.

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

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http://dx.doi.org/10.1002/mdc3.12441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353490PMC
December 2016

Brain activation in frontotemporal and Alzheimer's dementia: a functional near-infrared spectroscopy study.

Alzheimers Res Ther 2016 12 8;8(1):56. Epub 2016 Dec 8.

Department of Psychiatry and Psychotherapy, University Hospital of Tuebingen, Calwerstraße 14, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1186/s13195-016-0224-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5146884PMC
December 2016

Neurofilament light chain in FTD is elevated not only in cerebrospinal fluid, but also in serum.

J Neurol Neurosurg Psychiatry 2016 11 17;87(11):1270-1272. Epub 2016 May 17.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1136/jnnp-2015-312972DOI Listing
November 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

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

Cerebellum 2016 10;15(5):632-5

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s12311-016-0777-xDOI Listing
October 2016

New transgenic ALS/FTD models on the rat-walk: An Editorial Highlight for 'Increased Ubqln2 expression causes neuron death in transgenic rats'.

J Neurochem 2016 10;139(2):159-161

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

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http://dx.doi.org/10.1111/jnc.13775DOI Listing
October 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

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

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Brain 2016 08 19;139(Pt 8):e46. Epub 2016 May 19.

10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany

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http://dx.doi.org/10.1093/brain/aww115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958896PMC
August 2016

Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL.

Neurology 2016 04;86(15):e166-e167

From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (B.R., M.S.), German Research Center for Neurodegenerative Diseases (B.R., M.S.), and Department of Neuroradiology (B.B.), University of Tübingen; and CeGaT GmbH-Center for Genomics and Transcriptomics (S.U.), Tübingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002572DOI Listing
April 2016

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.

J Neurol 2016 Mar 25;263(3):558-74. Epub 2016 Jan 25.

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

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http://dx.doi.org/10.1007/s00415-016-8021-7DOI Listing
March 2016

Towards a common framework of grounded action cognition: Relating motor control, perception and cognition.

Cognition 2016 Jan 24;146:81-9. Epub 2015 Sep 24.

Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany; Psychology Department, Ludwig-Maximilians-University, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cognition.2015.09.010DOI Listing
January 2016

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Neurobiol Aging 2016 Jan 30;37:208.e11-208.e17. Epub 2015 Sep 30.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.016DOI Listing
January 2016

Freezing of Swallowing.

Mov Disord Clin Pract 2016 Sep-Oct;3(5):490-493. Epub 2016 Jan 18.

Department of Radiology University Hospital Tübingen Tübingen Germany.

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http://dx.doi.org/10.1002/mdc3.12314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400494PMC
January 2016

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.

J Neurol 2015 Nov 4;262(11):2557-63. Epub 2015 Sep 4.

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

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http://dx.doi.org/10.1007/s00415-015-7889-yDOI Listing
November 2015

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Biochem Biophys Res Commun 2015 Sep 26;465(1):35-40. Epub 2015 Jul 26.

Atlantic Research Centre, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada; Atlantic Research Centre, Department of Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.07.112DOI Listing
September 2015