Werner Stenzel

Werner Stenzel

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Werner Stenzel

Publications by authors named "Werner Stenzel"

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Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Brain Dev 2019 Nov 22;41(10):901-904. Epub 2019 Jul 22.

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Sozialpädiatrisches Zentrum, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.07.002DOI Listing
November 2019

The Liver-Stage Infection Is a Critical Checkpoint for Development of Experimental Cerebral Malaria.

Front Immunol 2019 1;10:2554. Epub 2019 Nov 1.

Parasitology Unit, Max Planck Institute for Infection Biology, Berlin, Germany.

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http://dx.doi.org/10.3389/fimmu.2019.02554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837997PMC
November 2019

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Neurology 2019 Aug 29;93(9):e889-e894. Epub 2019 Jul 29.

From Ghent University Hospital (P.A.O., B.D.P., R.C., J.L.D.B.), Belgium; Academic Medical Centre (E.A., F.B., M.d.V.), University of Amsterdam, the Netherlands; Harvard Medical School (A.A.), Boston, MA; CHU Henri Mondor (D.D.), Créteil, France; Hospital Santa Creu i Sant Pau (E.G.), Barcelona, Spain; Université Paris Est-Créteil (R.G.), France; Charité-Universitätsmedizin Berlin (H.-H.G., W.S.), Germany; John Radcliffe Hospital (D.H.-J.); Oxford University Hospitals (M.H.); UCL Institute of Neurology (J.H.), London, UK; Syddansk Universitet (H.d.S.), Odense, Denmark; and Mayo Clinic (D.S.), Rochester, MN.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000008005DOI Listing
August 2019

Sequestosome-1 (p62) expression reveals chaperone-assisted selective autophagy in immune-mediated necrotizing myopathies.

Brain Pathol 2019 Aug 3. Epub 2019 Aug 3.

Department of Neuropathology, Charité - Universitätsmedizin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1111/bpa.12772DOI Listing
August 2019

Mass cytometry reveals an impairment of B cell homeostasis in anti-synthetase syndrome.

J Neuroimmunol 2019 Jul 29;332:212-215. Epub 2019 Apr 29.

Centre of Research in Myology, Sorbonne Université, INSERM, Association Institut de Myologie, UMRS 974, 75013 Paris, France; Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, DHU I2B, AP-HP, INSERM, UMR 974, 75103 Paris, France.

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http://dx.doi.org/10.1016/j.jneuroim.2019.04.014DOI Listing
July 2019

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.

Neuromuscul Disord 2019 Jul 10;29(7):487-496. Epub 2019 May 10.

Department of Neuropathology, Charité - Universitätsmedizin, Charité Campus Mitte, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.05.003DOI Listing
July 2019

[Infections of the central nervous system by protozoa, helminths and fungi].

Nervenarzt 2019 Jun;90(6):623-641

Institut für Neuropathologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.

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http://dx.doi.org/10.1007/s00115-019-0719-1DOI Listing
June 2019

Biomarkers in Inflammatory Myopathies-An Expanded Definition.

Front Neurol 2019 4;10:554. Epub 2019 Jun 4.

Department of Neuropathology, Berlin Institute of Health (BIH), Charité - Universitätsmedizin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.3389/fneur.2019.00554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558048PMC
June 2019

PD1 pathway in immune-mediated myopathies: Pathogenesis of dysfunctional T cells revisited.

Neurol Neuroimmunol Neuroinflamm 2019 May 10;6(3):e558. Epub 2019 Apr 10.

Department of Neurology (S.K., W.B., M.E.) and Department of Neuropathology (C.P., N.F., H.R., R.M., V.M., H.-H.G., W.S.), Charité-Universitätsmedizin, Berlin, Germany; Department of Internal Medicine and Clinical Immunology (Y.A., O.B.), Assistance Public-Hôpitaux de Paris, Sorbonne-Université, INSERM, UMR974, Pitié-Salpêtrière University Hospital; Unité de Pathologie Neuromusculaire (S.L.-L.), Centre de Référence Paris-Est, Groupe Hospitalier Pitié-Salpêtrière; Service de Neurologie 2-Mazarin (M.T.), Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, APHP; OncoNeuroTox Group (M.T.), Center for Patients with Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié-Salpetrière-Charles Foix et Hôpital Percy; Inserm U 1127 (M.T.), CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Université Pierre-et-Marie-Curie, Sorbonne Université, Paris, France; Leibniz ScienceCampus Chronic Inflammation (H.R., R.M., W.S.); Center for Stroke Research Berlin (M.E.), Charité-Universitätsmedizin, Berlin; German Centre for Cardiovascular Research (DZHK) (M.E.); and German Center for Neurodegenerative Diseases (DZNE) (M.E.).

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http://dx.doi.org/10.1212/NXI.0000000000000558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467687PMC
May 2019

Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis.

Front Immunol 2019 9;10:1040. Epub 2019 May 9.

Department of Neuropathology, Charité -Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.3389/fimmu.2019.01040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522546PMC
May 2019

Recently Identified Congenital Myopathies.

Semin Pediatr Neurol 2019 Apr 10;29:83-90. Epub 2019 Feb 10.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.spen.2019.01.008DOI Listing
April 2019

De novo mutation in causes ichthyosis, , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

J Med Genet 2019 Mar 28;56(3):164-175. Epub 2018 Nov 28.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2018-105711DOI Listing
March 2019

Immunoglobulin (Ig)G-4 related myositis - A new entity?

Neuromuscul Disord 2019 01 24;29(1):70-74. Epub 2018 Nov 24.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Charitéplatz 1 / Virchowweg 15 (int.) Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183104
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http://dx.doi.org/10.1016/j.nmd.2018.11.009DOI Listing
January 2019

Cytoplasmic body myopathy revisited.

Neuromuscul Disord 2018 11 30;28(11):969-971. Epub 2018 Aug 30.

Department of Neuropathology, Campus Charité Mitte, Berlin, Germany; Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.08.006DOI Listing
November 2018

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Ann Clin Transl Neurol 2018 Nov 14;5(11):1385-1393. Epub 2018 Oct 14.

Department of Neuropathology Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health Berlin Germany.

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http://doi.wiley.com/10.1002/acn3.662
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http://dx.doi.org/10.1002/acn3.662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243389PMC
November 2018

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Neuromuscul Disord 2018 10 2;28(10):846-856. Epub 2018 Jul 2.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.06.010DOI Listing
October 2018

Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer.

Neurology 2018 09 8;91(10):e985-e994. Epub 2018 Aug 8.

From Sorbonne Université (M.T., D.P.), Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie 2-Mazarin; OncoNeuroTox Group (M.T., T.M., N.W., T.L., D.P.), Center for Patients With Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié-Salpetrière-Charles Foix et Hôpital Percy, Paris, France; Department of Oncologic Pathology (M.T.), Dana-Farber/Brigham and Women's Cancer Center, Harvard Medical School, Boston, MA; Service de Neuropathologie Raymond Escourolle (T.M., S.L.-L.), Départment de Neurophysiologie Clinique (T.M., T.L., S.L.-L.), Département de Médecine Interne et Immunologie Clinique (B.H., Y.A., O.B.), and Centre de Référence de Pathologie Neuromusculaire Paris-Est (B.H., A.B., Y.A., O.B., S.L.-L.), APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Charité-Universitatsmedizin Berlin Klinik fur Neurologie mit Experimenteller Neurologie (S.K.), Experimentelle Neurologie; Centrum fur Schlaganfallforschung Berlin (S.K.), Germany; Service de Réanimation Médicale (O.B.H.S.), Service de Médecine Interne (T.-A.S.), and Département de Dermatologie (N.K.), Hôpital Cochin, APHP, Hôpitaux Universitaires Paris Centre; Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris) (B.H.), Sorbonne Universités; Service d'Explorations Fonctionnelles (K.A.), APHP, Hôpital Ambroise Paré, Boulogne-Billancourt; Service de Pneumologie (C.L.) and Service d'Anatomie Pathologique (J.-F.B.), Centre Hospitalier Chartres-Louis-Pasteur, Le-Coudray; Service de Dermatologie (P.L.), APHP, Hôpital Saint Louis; Service de Pneumologie et Oncologie Thoracique (J.C.), Centre de Compétences pour les Maladies Pulmonaires Rares, APHP, Hôpital Tenon, Sorbonne Universités; Sorbonne Université (N.W.), Brain Liver Pitié-Salpêtrière (BLIPS) Study Group, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Département de Neurologie, Unité de réanimation neurologique; Inserm UMR974 (Y.A., O.B.), Centre de recherche en myologie, Université Pierre-et-Marie-Curie, Sorbonnes Universités, Paris, France; and Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006124DOI Listing
September 2018

The Curse of Apneic Spells.

Semin Pediatr Neurol 2018 07 13;26:56-58. Epub 2017 Apr 13.

(⁎)Department of Neuropathology, Charité Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.006DOI Listing
July 2018

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.

Brain 2018 06;141(6):1609-1621

Sorbonne Université, INSERM, Association Institut de Myologie, Center of Research in Myology, UMRS 974, AP-HP, Department of Internal Medicine and Clinical Immunology, DHU I2B, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

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http://dx.doi.org/10.1093/brain/awy105DOI Listing
June 2018

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

JIMD Rep 2019 14;43:27-35. Epub 2018 Apr 14.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1007/8904_2018_93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323020PMC
April 2018

Necrosis in anti-SRP and anti-HMGCRmyopathies: Role of autoantibodies and complement.

Neurology 2018 02 12;90(6):e507-e517. Epub 2018 Jan 12.

From the Departments of Neuropathology (Y.A., C.P., H.R., H.-H.G., W.S.) and Pathology (P.H., N.Z.), Charité-Universitätsmedizin, Berlin, Germany; Internal Medicine Department (Y.A., N.C., K.M., A.R., O. Benveniste), Reference for Neuro-muscular Diseases, Paris Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris; Myology Research Center (Y.A., L.A.-D., G.B.-B., D.A., O. Benveniste), Sorbonne Universités UPMC Univ Paris 06, INSERM UMRS974, Pitié-Salpêtrière University Hospital; Department of Neuropathology (T.M., S.L.-L., C.D.) and Institut de Myologie (B.E.), Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris; and Department of Immunology (C.B., L.D., O. Boyer), UNIROUEN, INSERM, U1234, Normandie University, Rouen University Hospital, France.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004923DOI Listing
February 2018

Neurometabolic and neurodegenerative diseases in children.

Handb Clin Neurol 2017 ;145:133-146

Department of Neuropathology, Charité - Universitätsmedizin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-802395-2.00009-2DOI Listing
January 2018

Acute and chronic bacterial infections and sarcoidosis.

Handb Clin Neurol 2017 ;145:217-226

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-802395-2.00016-XDOI Listing
January 2018

Acute and chronic viral infections.

Handb Clin Neurol 2017 ;145:227-243

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/B978-0-12-802395-2.00017-1DOI Listing
January 2018

Parasitic and fungal infections.

Handb Clin Neurol 2017 ;145:245-262

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97801280239520
Publisher Site
http://dx.doi.org/10.1016/B978-0-12-802395-2.00018-3DOI Listing
January 2018

224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016.

Neuromuscul Disord 2018 01 23;28(1):87-99. Epub 2017 Oct 23.

Department of Neuropathology, Charité-Universitätsmedizin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.09.016DOI Listing
January 2018

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Mitochondrion 2017 11 4;37:46-54. Epub 2017 Jul 4.

NeuroCure Clinical Research Center (NCRC), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249163028
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http://dx.doi.org/10.1016/j.mito.2017.06.007DOI Listing
November 2017

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Arthritis Rheumatol 2017 10 22;69(10):2081-2091. Epub 2017 Aug 22.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP-HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1002/art.40179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099183PMC
October 2017

Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.

Neuropediatrics 2017 Aug 15;48(4):226-232. Epub 2017 Apr 15.

Friedrich-Baur-Institut, Neurologische Klinik, Klinikum der Universität München, München, Germany.

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http://dx.doi.org/10.1055/s-0037-1601859DOI Listing
August 2017

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Hum Genet 2017 07 24;136(7):903-910. Epub 2017 May 24.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-017-1814-7DOI Listing
July 2017

Pathogenic role of anti-signal recognition protein and anti-3-Hydroxy-3-methylglutaryl-CoA reductase antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies.

Ann Neurol 2017 Apr;81(4):538-548

Pierre and Marie Curie University, Sorbonne Universities, National Institute of Health and Medical Research, National Center for Scientific Research, Myology Research Center, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ana.24902DOI Listing
April 2017

P2Y receptor is expressed on human microglia under physiological conditions throughout development and is sensitive to neuroinflammatory diseases.

Glia 2017 02 12;65(2):375-387. Epub 2016 Nov 12.

Department of Neuropsychiatry and Laboratory of Molecular Psychiatry, Charité-Universitätsmedizin Berlin, Berlin, 10117, Germany.

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http://dx.doi.org/10.1002/glia.23097DOI Listing
February 2017

Recent advances in Myopathology.

Neuropathol Appl Neurobiol 2017 02;43(1):3-4

Department of Neuropathology, Berlin, Germany.

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http://dx.doi.org/10.1111/nan.12389DOI Listing
February 2017

C5b-9 deposits on endomysial capillaries in non-dermatomyositis cases.

Neuromuscul Disord 2016 Apr-May;26(4-5):283-91. Epub 2016 Mar 3.

Edinger Institute, Institute of Neurology, University of Frankfurt am Main, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.014DOI Listing
January 2017

The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies.

J Autoimmun 2016 Dec 10;75:118-129. Epub 2016 Aug 10.

Department of Rheumatology and Clinical Immunology, Charité-Universitätsmedizin Berlin, Chariteplatz 1, 10117, Berlin, Germany.

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http://dx.doi.org/10.1016/j.jaut.2016.08.004DOI Listing
December 2016

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Brain 2016 12 29;139(Pt 12):e70. Epub 2016 Oct 29.

1 Department of Neuropaediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin-Berlin, Germany.

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http://dx.doi.org/10.1093/brain/aww252DOI Listing
December 2016

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.

Skelet Muscle 2016 5;6:25. Epub 2016 Jul 5.

Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany ; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1186/s13395-016-0095-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932663PMC
October 2016

Advances in serological diagnostics of inflammatory myopathies.

Curr Opin Neurol 2016 10;29(5):662-73

aDépartement de Médecine Interne et Immunologie Clinique, Université Pierre et Marie Curie, Assistance Publique - Hôpitaux de Paris, GH Pitié-Salpêtrière, INSERM U974, DHU I2B, Paris, France bCentre de Référence des Pathologies Neuromusculaires Paris Est, Institut de Myologie, Paris, France cDepartment of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1097/WCO.0000000000000376DOI Listing
October 2016

Reply: Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.

Brain 2016 09 5;139(Pt 9):e51. Epub 2016 Jun 5.

1 Département de Médecine Interne et Immunologie Clinique, Centre de Référence Maladies Neuro-Musculaires Paris Est, Assistance Public - Hôpitaux de Paris (AP-HP), DHU I2B, Université Pierre et Marie Curie (UPMC), INSERM UMRS 974, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww126DOI Listing
September 2016

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Am J Med Genet A 2016 09 9;170(9):2274-81. Epub 2016 Jun 9.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37798DOI Listing
September 2016

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Acta Neuropathol 2016 09 2;132(3):475-8. Epub 2016 Aug 2.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s00401-016-1602-9DOI Listing
September 2016

Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome.

J Immunol 2016 09 10;197(5):1621-30. Epub 2016 Aug 10.

Sorbonne Universités, Université Pierre et Marie Curie Université Paris 06, INSERM U1135, CNRS ERL8255, Centre d'Immunologie et des Maladies Infectieuses, 75013 Paris, France;

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http://dx.doi.org/10.4049/jimmunol.1501902DOI Listing
September 2016

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.

Acta Neuropathol Commun 2016 04 27;4(1):45. Epub 2016 Apr 27.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Charité Campus Mitte, Charitéplatz 1, D-10117, Berlin, Germany.

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http://dx.doi.org/10.1186/s40478-016-0308-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4847347PMC
April 2016

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Neuromuscul Disord 2016 Mar 3;26(3):236-9. Epub 2015 Dec 3.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.nmd.2015.11.011DOI Listing
March 2016

Hepatitis E-induced severe myositis.

Muscle Nerve 2016 Feb 24;53(2):317-20. Epub 2015 Nov 24.

Department of Gastroenterology and Hepatology, Kr. Waldfriede, Berlin, Germany.

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http://dx.doi.org/10.1002/mus.24959DOI Listing
February 2016

Reply: Skin biopsies in the differential diagnosis of parkinsonism: are we ready for simplified protocols?

Brain 2016 Jan 8;139(Pt 1):e6. Epub 2015 Sep 8.

2 Department of Neuropathology, Charité - University Medicine Berlin, Charitéplatz 1, 10117 Berlin, Germany.

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http://dx.doi.org/10.1093/brain/awv252DOI Listing
January 2016

Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.

Neuropathol Appl Neurobiol 2015 Dec 19;41(7):952-63. Epub 2015 May 19.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1111/nan.12231DOI Listing
December 2015

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Neurol Genet 2015 Dec 22;1(4):e32. Epub 2015 Oct 22.

Departments of Neuropediatrics (G.S., D.S., F.S., S.M.-G., E.G., M.S.) and Neuropediatrics/SPZ (K.v.A.), NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany; the Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, Germany; and the DRK Children's Hospital Berlin (A.v.M.), Germany.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811389PMC
December 2015

Expanding the spectrum of livedoid vasculopathy: peculiar neuromuscular manifestations.

Neuropathol Appl Neurobiol 2015 Oct 30;41(6):849-52. Epub 2015 May 30.

Department of Internal Medicine and Clinical Immunology, Hospital University Department: Inflammation, Immunopathology and Biotherapy (DHU i2B), Assistance Publique - Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1111/nan.12243DOI Listing
October 2015

Human NCL Neuropathology.

Biochim Biophys Acta 2015 Oct 16;1852(10 Pt B):2262-6. Epub 2015 May 16.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Charitéplatz 1 | Virchowweg 15, D-10117 Berlin, Germany; Department of Neuropathology, University Medicine of the Johannes Gutenberg University, Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.05.007DOI Listing
October 2015

Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis.

Brain 2015 Sep 21;138(Pt 9):2485-92. Epub 2015 Jul 21.

2 Département de Médecine Interne et Immunologie Clinique, Centre de Référence Maladies Neuro-Musculaires Paris Est, Assistance Public - Hôpitaux de Paris (AP-HP), DHU I2B, Université Pierre et Marie Curie (UPMC), INSERM UMRS 974, Hôpital Pitié-Salpêtrière, Paris, France

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http://dx.doi.org/10.1093/brain/awv192DOI Listing
September 2015

Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis.

Neuropathol Appl Neurobiol 2015 Aug 19;41(5):686-9. Epub 2015 May 19.

Department of Neuropathology, Charité-Universitätsmedizin, Berlin, Germany.

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http://dx.doi.org/10.1111/nan.12234DOI Listing
August 2015

Phosphorylated α-synuclein in skin nerve fibres differentiates Parkinson's disease from multiple system atrophy.

Brain 2015 Aug 27;138(Pt 8):2310-21. Epub 2015 May 27.

1 Department of Neurology, Charité - University Medicine Berlin, Augustenburger Platz 1, 13355 Berlin, Germany

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http://dx.doi.org/10.1093/brain/awv138DOI Listing
August 2015

In Vivo Function of PTEX88 in Malaria Parasite Sequestration and Virulence.

Eukaryot Cell 2015 Jun 27;14(6):528-34. Epub 2015 Mar 27.

Parasitology Unit, Max Planck Institute for Infection Biology, Berlin, Germany Department of Medical Microbiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands

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http://dx.doi.org/10.1128/EC.00276-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4452575PMC
June 2015

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.

Acta Neuropathol 2015 May 13;129(5):611-24. Epub 2015 Jan 13.

Département de Médecine Interne et Immunologie Clinique, Assistance Publique-Hôpitaux de Paris, GH Pitié-Salpêtrière, Université Pierre et Marie Curie, Inserm, U974, DHU I2B, Paris, France,

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http://dx.doi.org/10.1007/s00401-015-1384-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405277PMC
May 2015

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

Neurology 2015 Mar 6;84(13):1346-54. Epub 2015 Mar 6.

From the Departments of Neuropathology (W.S., C.P., D.P., F.L.H., H.H.G.) and Rheumatology (U.S.), Charité-Universitätsmedizin Berlin, Germany; the Département de Médecine Interne et Immunologie Clinique (Y.A., O.B.), Centre de Référence Maladies Neuro-Musculaires Paris Est, Assistance Public-Hôpitaux de Paris Université Pierre et Marie Curie, Hôpital Pitié-Salpêtrière, Paris, France; the Section of Neuropathology, Department of Anatomical Pathology (R.J.), Path West Laboratory Medicine, Royal Perth Hospital, Perth; School of Pathology and Laboratory Medicine (R.J.), University of Western Australia, Nedlands, Australia; the Institute of Neuropathology (K.N., K.G.C., J.W.) and the Department of Neurology (K.G.C.), RWTH Aachen, Germany; the Department of Pathology and Neuropathology (E.A.), AMC University, Amsterdam, the Netherlands; the Department of Neuropathology (V.K., E.R.), University of Zürich, Switzerland; and the Department of Neuropathology (H.H.G.), University Medicine, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001422DOI Listing
March 2015

Lymphocytes modulate innate immune responses and neuronal damage in experimental meningitis.

Infect Immun 2015 Jan 27;83(1):259-67. Epub 2014 Oct 27.

Laboratory of Molecular Psychiatry and Department of Neuropsychiatry, Charité-Universitätsmedizin Berlin, Berlin, Germany Cluster of Excellence NeuroCure, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1128/IAI.02682-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288876PMC
January 2015

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Brain Pathol 2014 Sep 16;24(5):452-8. Epub 2014 Mar 16.

Department of Neurology, Charité-Universitätsmedizin, Berlin, Germany; Neurocure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany.

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http://doi.wiley.com/10.1111/bpa.12120
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September 2014

A case of inflammatory peripheral nerve destruction antedating anti-NMDA receptor encephalitis.

Neurol Neuroimmunol Neuroinflamm 2014 Aug 22;1(2):e14. Epub 2014 May 22.

Department of Neurology and Experimental Neurology (H.P., C.H., M.E.) and Department of Pathology (W.S.), Charité-Universitätsmedizin Berlin; German Center for Neurodegenerative Diseases (DZNE) Berlin (H.P.); and Institute for Experimental Immunology (S.S.), affiliated with Euroimmun, Lübeck, Germany.

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http://dx.doi.org/10.1212/NXI.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202681PMC
August 2014

The lymphoid follicle variant of dermatomyositis.

Neurol Neuroimmunol Neuroinflamm 2014 Aug 28;1(2):e19. Epub 2014 Jul 28.

Departments of Neuropathology (J.R., D.P., F.L.H., H.H.G., W.S.) and Rheumatology and Clinical Immunology (U.S.), Charité Universitätsmedizin Berlin, Germany; and Departments of (Neuro) Pathology (E.A.), Pediatric Hematology, Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital (D.S.-M.), and Neurology and Neurophysiology (M.d.V.), Academic Medical Centre, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/NXI.0000000000000019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202675PMC
August 2014

Human African trypanosomiasis with 7-year incubation period: clinical, laboratory and neuroimaging findings.

Parasitol Int 2014 Jun 5;63(3):557-60. Epub 2014 Mar 5.

Department of Infectious Diseases and Respiratory Medicine, Charité, Charitéplatz 1, 10117 Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13835769140003
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http://dx.doi.org/10.1016/j.parint.2014.02.003DOI Listing
June 2014

Gadolinium enhancement in newly diagnosed patients with lumbar disc herniations are associated with inflammatory peridiscal tissue reactions--evidence of fragment degradation?

Clin Neurol Neurosurg 2014 Apr 18;119:28-34. Epub 2014 Jan 18.

Department of Neurology, University of Duisburg-Essen, Essen, Germany; Max Planck Institute for Neurological Research with Klaus-Joachim-Zülch Laboratories of the Max Planck Society and the Medical Faculty of the University of Cologne, Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2014.01.008DOI Listing
April 2014

Inflammatory myopathy with abundant macrophages (IMAM): the immunology revisited.

Neuromuscul Disord 2014 Feb 18;24(2):151-5. Epub 2013 Nov 18.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1016/j.nmd.2013.11.004DOI Listing
February 2014

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

Muscle Nerve 2014 Jan 3;49(1):144-5. Epub 2013 Dec 3.

Department of Pathology, Medical Faculty, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/mus.23981DOI Listing
January 2014

Calcified myocardial necrosis in pediatric patients after cardiopulmonary resuscitation.

Forensic Sci Med Pathol 2013 Dec 22;9(4):543-50. Epub 2012 Dec 22.

Institute of Legal Medicine and Forensic Sciences, Charité, Universitätsmedizin Berlin, Turmstr. 21, Building N, 10559, Berlin, Germany,

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http://dx.doi.org/10.1007/s12024-012-9400-8DOI Listing
December 2013

Ultrastructural myopathology in the molecular era.

Ultrastruct Pathol 2013 Oct;37(5):328-31

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany and.

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http://dx.doi.org/10.3109/01913123.2013.810690DOI Listing
October 2013

Enhanced acute immune response in IL-12p35-/- mice is followed by accelerated distinct repair mechanisms in Staphylococcus aureus-induced murine brain abscess.

J Infect Dis 2013 Sep 26;208(5):749-60. Epub 2013 Mar 26.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1093/infdis/jit126DOI Listing
September 2013

Abrogation of IL-4 receptor-α-dependent alternatively activated macrophages is sufficient to confer resistance against pulmonary cryptococcosis despite an ongoing T(h)2 response.

Int Immunol 2013 Aug 26;25(8):459-70. Epub 2013 Mar 26.

Institute of Immunology/Molecular Pathogenesis, Center for Biotechnology and Biomedicine, College of Veterinary Medicine, University of Leipzig, Germany.

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http://dx.doi.org/10.1093/intimm/dxt003DOI Listing
August 2013

Early loss of pericytes and perivascular stromal cell-induced scar formation after stroke.

J Cereb Blood Flow Metab 2013 Mar 19;33(3):428-39. Epub 2012 Dec 19.

Laboratory of Molecular Psychiatry, Department of Neuropsychiatry, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/jcbfm.2012.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3587816PMC
March 2013

Practical application of electron microscopy to neuromuscular diseases.

Ultrastruct Pathol 2013 Feb;37(1):15-8

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.3109/01913123.2012.670045DOI Listing
February 2013

Pipestem capillaries in necrotizing myopathy revisited.

Neuromuscul Disord 2013 Jan 25;23(1):66-74. Epub 2012 Oct 25.

Institute of Pathology, Charité-Universitätsmedizin, 10117 Berlin, Germany.

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http://dx.doi.org/10.1016/j.nmd.2012.09.001DOI Listing
January 2013

Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profile.

Am J Pathol 2012 Dec 8;181(6):2161-71. Epub 2012 Oct 8.

Department of Neuropathology, Charité-Universitätsmedizin, Charité Campus Mitte, Charitéplatz 1, Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajpath.2012.08.033DOI Listing
December 2012

LGI-1-positive limbic encephalitis: a clinicopathological study.

J Neurol 2012 Nov 31;259(11):2478-80. Epub 2012 May 31.

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http://dx.doi.org/10.1007/s00415-012-6559-6DOI Listing
November 2012

Intracranial, supratentorial dermoid cysts in paediatric patients--two cases and a review of the literature.

Childs Nerv Syst 2012 Feb 8;28(2):185-90. Epub 2011 Dec 8.

Department of Neurosurgery, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1007/s00381-011-1646-zDOI Listing
February 2012

A novel experimental in vivo model of cerebral immunomodulation induced by inactivated Staphylococcus epidermidis.

J Neurosci Methods 2012 Jan 22;203(1):89-95. Epub 2011 Sep 22.

Neurosurgical Oncology Laboratory, Department of General Neurosurgery, University Hospital Cologne, Kerpener Strasse 62, 50924 Cologne, Germany.

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http://dx.doi.org/10.1016/j.jneumeth.2011.09.016DOI Listing
January 2012