Publikationen Zentrum für seltene neuromuskuläre Erkrankungen


Bouhassira D, Perrot S, Attal N, Ramirez-Gil JF, Delval C, Schaller M, Bessière B, Houéto P, Sommer C (2022) Combination of inhaled nitrous oxide and oral opioids induces long-lasting analgesic effects in patients with neuropathic pain: ProtoTOP study post hoc exploratory analyses.
Pain 2022 Sep 1; 163 (9): e1021-e9
Zur Publikation

Karl-Schöller F, Kunz M, Kreß L, Held M, Egenolf N, Wiesner A, Dandekar T, Sommer C, Üçeyler N (2022)
A translational study: Involvement of miR-21-5p in development and maintenance of neuropathic pain via immune-related targets CCL5 and YWHAE.
Experimental Neurology 2022 Jan; 347: 113915
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Kec D, Rajdova A, Raputova J, Adamova B, Srotova I, Nekvapilova EK, Michalcakova RN, Horakova M, Belobradkova J, Olsovsky J, Weber P, Hajas G, Kaiserova M, Mazanec R, Potockova V, Ehler E, Forgac M, Birklein F, Üçeyler N, Sommer C, Bednarik J, Vlckova E (2022) Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: A multicentre observational cross-sectional study.
European Journal of Pain 2022 Feb; 26(2): 370-389
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Klein, D., Groh, J., Yuan, X., Berve, K., Stassart, R., Fledrich, R., Martini, R. (2022)
Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot-Marie-Tooth 1A.
Glia 2022 Jun; 70(6): 1100-1116
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Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muschol N, Canaan-Kühl S, Brand E (2022)
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
European Heart Journal  Cardiovascular Pharmacotherapy 2022 May 5 2022 May 5; 8(3): 272-281
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Maier A, Boentert M, Reilich P, Witzel S, Petri S, Großkreutz J, Metelmann M, Lingor P, Cordts I, Dorst J, Zeller D, Günther R, Hagenacker T, Grehl T, Spittel S, Schuster J, Ludolph A, Meyer T, MND-NET consensus group (2022).
ALSFRS-R-SE – an adapted, annotated, and self-explanatory version of the revised amyotrophic lateral sclerosis functional rating scale.
Neurological Research and Practice 2022 Dec 15; 4(1): 60
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Ostertag C, Klein D, Martini R (2022)
Presymptomatic macrophage targeting has a long-lasting therapeutic effect on treatment termination in a mouse model of Charcot-Marie-Tooth 1.
Experimental Neurology 2022 Nov; 357: 114195
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Özdağ Acarlı AN, Klein T, Egenolf N, Sommer C, Üçeyler N (2022)
Muscle Nerve. Subepidermal Schwann cell counts correlate with skin innervation – an exploratory study. Muscle & Nerve 2022 Apr; 65(4): 471-479
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Papagianni A, Ihne S, Zeller D, Morbach C, Üçeyler N, Sommer C (2022)
Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type.
Amyloid 2022; Mar; 29(1): 14-22
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Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group (2022) Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet Journal of Rare Diseases 2022 Oct 23; 17(1): 384
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Pluta N, Hoffjan S, Zimmer F, Köhler C, Lücke T, Mohr J, Vorgerd M, Nguyen HHP, Atlan D, Wolf B, Zaum AK, Rost S (2022)
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Genes (Basel). 2022 Sep 28; 13(10): 1752
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Raputova J, Rajdova A, Vollert J, Srotova I, Rebhorn C, Üçeyler N, Birklein F, Sommer C, Vlckova E, Bednarik J (2022)
Continuum of sensory profiles in diabetes mellitus patients with and without neuropathy and pain.
European Journal of Pain 2022 Nov; 26(10): 2198-2212
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van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Diaz-Cambronero O, Løkken N, Hellblom A,  Hopkins PM, Rueffert H, Bastian B, Vilchez JJ , Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ (2022)
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. European Journal of Neurology 2022; 29(12): 3486-507
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Verma V, Drury GL, Parisien M, Özdağ Acarli AN, Al-Aubodah TA, Nijnik A, Wen X, Tugarinov N, Verner M, Klares R, 3rd, Linton A, Krock E, Morado Urbina CE, Winsvold B, Fritsche LG, Fors EA, Piccirillo C, Khoutorsky A, Svensson CI, Fitzcharles MA, Ingelmo PM, Bernard NF, Dupuy FP, Üçeyler N, Sommer C, King IL, Meloto CB, Diatchenko L (2022)
Unbiased immune profiling reveals a natural killer cell-peripheral nerve axis in fibromyalgia.
Pain 2022 Jul 1; 163(7): e821-e836
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Weiner S, Strinitz M, Herfurth J, Hessenauer F, Nauroth-Kreß C, Kampf T, Homola GA, Üçeyler N, Sommer C, Pham M, Schindehütte M (2022)
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Dorsal Root Ganglion Volumetry by MR Gangliography.
American Journal of Neuroradiology (AJNR) 2022 May; 43(5): 769-775
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Zaum AK, Nanda I, Kress W, Rost S (2022)
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Molecular Genetic and Genomic Medicine 2022 Oct; 10(10): e2028
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Briese M, Sendtner M (2021)
Keeping the balance: The noncoding RNA 7SK as a master regulator for neuron development and function.
Bioessays 2021 Aug, 43(8): e2100092
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Deng C, Moradi M, Reinhard S, Ji C, Jablonka S, Hennlein L, Luningschror P, Doose S, Sauer M, Sendtner M (2021)
Dynamic remodeling of ribosomes and endoplasmic reticulum in axon terminals of motoneurons.
Journal of Cell Sciences 2021 Nov 15, 134(22): jcs258785
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Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ (2021)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron 2021 Feb 3; 109(3): 448-460e4
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Dohrn M F, Auer-Grumbach M, Baron R, Birklein F, Escolano-Lozano F, Geber C, Grether N, Hagenacker T, Hund E, Sachau J, Schilling M, Schmidt J, Schulte-Mattler W, Sommer C, Weiler M, Wunderlich G, Hahn K (2021)
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
Journal of  Neurology 2021 Oct; 268(10): 3610-3625
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Doppler K, Hemprich A, Haarmann A, Brecht I, Franke M, Kröger S, Villmann C, Sommer C (2021)
Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis.
Journal of Neuroimmunology 2021 Jul 15; 356: 577588
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Fischhaber N, Faber J, Bakirci E, Dalton PD, Budday S, Villmann C, Schaefer N (2021)
Spinal cord neuronal network formation in a 3D printed reinforced matrix – a model system to study disease mechanisms.
Advanced Healthcare Materials 2021 Oct; 10(19): e2100830
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Ghanawi H, Hennlein L, Zare A, Bader J, Salehi S, Hornburg D, Ji C, Sivadasan R, Drepper C, Meissner F, Mann M, Jablonka S, Briese M, Sendtner M (2021)
Loss of full-length hnRNP R isoform impairs DNA damage response in motoneurons by inhibiting Yb1 recruitment to chromatin.
Nucleic Acids Research 2021 Dec 2; 49(21): 12284-12305
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Grüner J, Stengel H, Werner C, Appeltshauser L, Sommer C, Villmann C, Doppler K (2021)
Anti-contactin-1 Antibodies Affect Surface Expression and Sodium Currents in Dorsal Root Ganglia.
Neurology Neuroimmunology Neuroinflammation 2021 Aug 24; 8(5): e1056
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Heiderich, S., Bastian, B., Johannsen, S., Klingler, W., Rüffert, H., Schuster, F. (2021)
Konsensus-Leitlinie der Europäischen Maligne Hyperthermie Gruppe zum perioperativen Management.
Der Anästhesist 2021 Dec; 70, 155-157
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Ji C, Bader J, Ramanathan P, Hennlein L, Meissner F, Jablonka S, Mann M, Fischer U, Sendtner M, Briese M (2021)
Interaction of 7SK with the Smn complex modulates snRNP production.
Nature Communications 2021 Feb, 12(1): 1278
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Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E (2021)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
JAMA Neurology. 2021 Oct 1; 78(10): 1236-1248
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Klein D, Xidi Y, Weiß E, Martini R (2021)
Physical exercise mitigates neuropathic changes in an animal model for Charcot-Marie-Tooth disease 1X.
Experimental Neurology 2021 Sep; 343: 113786
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Peseschkian T, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Büchner B, Weiland U, Schönfelder E, Heinrich F, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O (2021)
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany.
Brain Sciences 2021 Mar 14; 11(3): 372
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Schischlevskij P, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Stendel C, Müschen LH, Osmanovic A, Binz C, Klopstock T, Dorst J, Ludolph AC, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O (2021)
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers' Lives.
Brain Sciences 2021 Jun 4; 11(6): 748
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Van den Bergh PYK, van Doorn PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, Attarian S, Blomkwist-Markens PH, Cornblath DR, Eftimov F, Goedee HS, Harbo T, Kuwabara S, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Sommer C, Topaloglu HA (2021)
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force - Second revision
Journal of the Peripheral Nervous System 2021 Sep; 26(3): 242-268
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Appeltshauser L, Brunder AM, Heinius A, Körtvélyessy P, Wandinger KP, Junker R, Villmann C, Sommer C, Leypoldt F, Doppler K (2020)
Antiparanodal antibodies and IgG subclasses in acute autoimmune neuropathy.
Neurology Neuroimmunology Neuroinflammation 2020 Jul 24; 7(5): e817
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Bouhassira D, Perrot S, Riant T, Martiné-Fabre G, Pickering G, Maindet C, Attal N, Ranque Garnier S, Nguyen JP, Kuhn E, Viel E, Kieffert P, Tölle T, Delorme C, Deleens R, Giniès P, Corand-Dousset V, Dal-Col C, Serrie A, Chevrillon E, Gov C, Ramirez-Gil JF, Delval C, Schaller M, Bessière B, Houéto P, Sommer C (2020)
Safety and efficacy of an equimolar mixture of oxygen and nitrous oxide: a randomized controlled trial in patients with peripheral neuropathic pain.
Pain 2020 Apr 1; 164(4): 1104-1115
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Dimova V, Herrnberger MS, Escolano-Lozano F, Rittner HL, Vlckova E, Sommer C, Maihofner C, Birklein F (2020)
Clinical phenotypes and classification algorithm for complex regional pain syndrome.
Neurology 2020 Jan 28; 94 (4): e357-e367
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Hartmannsberger B, Doppler K, Stauber J, Schlotter-Weigel B, Young P, Sereda MW, Sommer C (2020)
Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.
Brain Communications 2020 Feb 12; 2(1): fcaa012
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Lehmann HC, Wunderlich G, Fink GR, Sommer C (2020)
Diagnosis of peripheral neuropathy.
Neurological Research and Practice 2020 Jul 15; 2:20
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Sommer C (2020)
Editorial: Management of rare neuromuscular diseases.
Current Opinion in Neurology 2020 Oct; 33(5): 543-544
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Dietz C, Müller M, Reinhold AK, Karch L, Schwab B, Forer L, Vlckova E, Brede EM, Jakubietz R, Üçeyler N, Meffert R, Bednarik J, Kress M, Sommer C, Dimova V, Birklein F, Rittner HL (2019)
What is normal trauma healing and what is complex regional pain syndrome I? An analysis of clinical and experimental biomarkers.
Pain 2019 Oct 1; 160 (10): 2278- 89
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Doppler K, Schuster Y, Appeltshauser L, Biko L, Villmann C, Weishaupt A, Werner C, Sommer C, 
Anti-CNTN1 IgG3 induces acute conduction block and motor deficits in a passive transfer rat model
Journal of Neurinflammation 2019 Apr 5; 16(1): 73
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Karl F, Wußmann M, Kreß L, Malzacher T, Fey P, Groeber-Becker F, Üçeyler N (2019)
Patient-derived in vitro skin models for investigation of small fiber pathology.
Annales of Clinical and Translation Neurology 2019 Sep; 6(9): 1797-1806
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Held M, Karl F, Vlckova E, Rajdova A, Escolano-Lozano F, Stetter C, Bharti R, Förstner KU, Leinders M, Dušek L, Birklein F, Bednarik J, Sommer C, Üçeyler N (2019)
Sensory profiles and immune-related expression patterns of patients with and without neuropathic pain after peripheral nerve lesion.
Pain 2019 Oct; 160(10): 2316-2327
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Klein T, Klug K, Henkel L, Kwok CK, Edenhofer F, Klopocki E, Kurth I, Üçeyler N (2019)
Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.
Stem Cell Research 2019 Mar; 35: 101396
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Merkies ISJ, van Schaik IN, Léger JM, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Durn BL, Cornblath DR, De Bleecker JL, Sommer C, Robberecht W, Saarela M, Kamienowski J, Stelmasiak Z, Tackenberg B, Mielke O (2019)
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies.
Journal of the  Peripheral Nervous System 2019 Jan 19; 24(1): 48-55
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Mielke O, Bril V, Cornblath DR, Lawo JP, van Geloven N, Hartung HP, Lewis RA, Merkies ISJ, Sobue G, Durn B, Shebl A, van Schaik IN (2019)
Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre-randomization phase of the Polyneuropathy And Treatment with Hizentra study.
Journal of the Peripheral Nervous System 2019 Jan; 24(1): 72-79
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Schubert AL, Held M, Sommer C, Üçeyler N (2019)
Reduced gene expression of netrin family members in skin and sural nerve specimens of patients with painful peripheral neuropathies.
Journal of Neurology 2019 Aug 7; 266: 2812-2820
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Stengel H, Vural A, Brunder AM, Heinius A, Appeltshauser L, Fiebig B, Giese F, Dresel C, Papagianni A, Birklein F, Weis J, Huchtemann T, Schmidt C, Körtvelyessy P, Villmann C, Meinl E, Sommer C, Leypoldt F, Doppler K (2019)
Anti-pan-neurofascin IgG3 as a marker of fulminant autoimmune neuropathy.
Neurology Neuroimmunology & Neuroinflammation 2019 Sep; 6(5): e603
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Wirsching I, Ort N, Üçeyler N (2019)
ALS or ALS mimic by neuroborreliosis-A case report.
Clinical Case Reports 2019 Dec 11; 8(1): 86-91
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