Publikationen

Publikationen des Netzwerks mit CMT-NET Förderkennzeichen

2020

• Rudnik-Schöneborn S, Thiele S, Walter MC, Reinecke L, Sereda MW, Schöneborn R, Elbracht M. Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany, European Journal of Neurology, 2020 Aug;27(8):1390-1396 [ DOI ]

• Hartmannsberger B, Doppler K, Stauber J, Schlotter-Weigel B, Young P, Sereda MW, Sommer C. Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A, Brain Comm., 2020 Feb 12;2(1):fcaa012 [ DOI ]

2019

• Fledrich R, Akkermann D, Schütza V, Abdelaal TA, Hermes D, Schäffner E, Soto-Bernardini MC, Götze T, Klink A, Kusch K, Krueger M, Kungl T, Frydrychowicz C, Möbius W, Brück W, Mueller WC, Bechmann I, Sereda MW, Schwab MH, Nave KA, Stassart RM. NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies. Nat Commun. 2019 Apr 1;10(1):1467. [ DOI ]

• Schorling S, Thiele S, Gumbert G, Krause S, Klug C, Schreiber-Katz O, Reilich P, Nagels K, Walter MC. Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany. Neurology 2019 Mar 27. [ DOI ]

2018

• Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U. Characteristic clinical and ultrastructural findings in nesprinopathies. European Journal of Paediatric Neurology 2018 [Epub ahead of print]. [ DOI ]

• Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, …, Yuan X, …, Martini R, Janke C, Senderek J. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J 2018 Dec 3;37(23). [ DOI ]

• Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Human Genetics 2018, Dec;137(11-12):911-919. [ DOI ]

• Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J. Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2. Clinical Genetics 2018, Nov;94(5):467-472. [ DOI ]

• Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. Neuropediatrics. 2018 Oct;49(5):330-338. [ DOI ]

• Fledrich R, Abdelaal T, Rasch L, Bansal V, Schütza V, Brügger B, Lüchtenborg C, Prukop T, Stenzel J, Rahman RU, Hermes D, Ewers D, Möbius W, Ruhwedel T, Katona I, Weis J, Klein D, Martini R, Brück W, Müller WC, Bonn S, Bechmann I, Nave KA, Stassart RM, Sereda MW. Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. Nat Commun. 2018 Aug 2;9(1):3025. [ DOI ]
• Yuan X, Klein D, Kerscher S, West B.L, Weis J, Katona I and Martini R. Macrophage depletion ameliorates peripheral neuropathy in aging mice. JNeurosci. 2018 May 9;38(19):4610-4620. [ DOI ]
• Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V. A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. Acta Neuropathologica. 2018 Jan;135(1):131-148. [ DOI ]

2017

• Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. [ DOI ]
• Dreser A, Vollrath JT, Sechi A, Johann S, Roos A, Yamoah A, Katona I, Bohlega S, Wiemuth D, Tian Y, Schmidt A, Vervoorts J, Dohmen M, Beyer C, Anink J, Aronica E, Troost D, Weis J, Goswami A. The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins. Cell Death and Differentiation. 2017 Oct;24(10):1655-1671. [ DOI ]
• Doppler K, Frank F, Koschker AC, Reiners K, Sommer C. Nodes of Ranvier in skin biopsies of patients with diabetes mellitus. J Peripher Nerv Syst. 2017 Sep;22(3):182-190. [ DOI ]
• Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J. Hereditary Neuropathies: Update 2017.Neuropediatrics. 2017 Aug;48(4):282-293. [ DOI ]
• Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Towards a functional pathology of hereditary neuropathies. Acta Neuropathol. 2017 Apr;133(4):493-515. [ DOI ]

5 ausgewählte, themenbezogene Publikationen aller CMT-NET Projektleiter der letzten 5 Jahre

PD Dr. Burkhard Gess

• Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Hereditary Neuropathies. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. [ DOI ]
• Gadermayr M, Disch C, Müller M, Merhof D, Gess B. A comprehensive study on automated muscle segmentation for assessing fat infiltration in neuromuscular diseases. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. [ DOI ]
• Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017 Dec;143(5):507-522. [ DOI ]
• Röhr D, Halfter H, Schulz JB, Young P, Gess B. Sodium-dependent Vitamin C transporter 2 deficiency impairs myelination and remyelination after injury: Roles of collagen and demethylation.  Glia. 2017 Jul;65(7):1186-1200. [ DOI ]
• Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P. Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.  Cochrane Database Syst Rev. 2015 Dec 11;(12):CD011952. [ DOI ]

PD Dr. Olaf Jahn

• Stankova T, Piepkorn L, Bayer TA, Jahn O, Tirard M. SUMO1-conjugation is altered during normal aging but not by increased amyloid burden. Aging Cell. 2018 Apr 6:e12760, doi: 10.1111/acel.12760. [ DOI ]
• Lipstein N, Göth M, Piotrowski C, Pagel K, Sinz A, Jahn O. Presynaptic Calmodulin targets: lessons from structural proteomics. Expert Review of Proteomics. 2017 Mar;14(3):223--242. [ DOI ]
• Kusch K, Uecker M, Liepold T, Möbius W, Hoffmann C, Neumann H, Werner HB, Jahn O. Partial Immunoblotting of 2D-Gels: A Novel Method to Identify Post-Translationally Modified Proteins Exemplified for the Myelin Acetylome. Proteomes. 2017 Jan;5(1):3. [ DOI ]
• Ott C, Martens H, Hassouna I, Oliveira B, Erck C, Zafeiriou MP, Peteri UK, Hesse D, Gerhart S, Altas B, Kolbow T, Stadler H, Kawabe H, Zimmermann WH, Nave KA, Schulz-Schaeffer W, Jahn O, Ehrenreich H. Widespread expression of erythropoietin receptor in brain and its induction by injury. Mol Med. 2015 Sep;. [ DOI ]
• Kuharev J, Navarro P, Distler U, Jahn O, Tenzer S. In-depth evaluation of software tools for data-independent acquisition based label-free quantification. Proteomics. 2015 Sep;15(18):3140--3151. [ DOI ]

Prof. Dr. Rudolf Martini

• Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep;99(3):607--623. [ DOI ]
• Groh J, Basu R, Stanley ER, Martini R. Cell-Surface and Secreted Isoforms of CSF-1 Exert Opposing Roles in Macrophage-Mediated Neural Damage in Cx32-Deficient Mice. J Neurosci. 2016 Feb;36(6):1890--1901. [ DOI ]
• Klein D, Patzkó A, Schreiber D, van Hauwermeiren A, Baier M, Groh J, West BL, Martini R. Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice. Brain. 2015 Nov;138(Pt 11):3193--3205. [ DOI ]
• Klein D, Groh J, Weishaupt A, Martini R. Endogenous antibodies contribute to macrophage-mediated demyelination in a mouse model for CMT1B. J Neuroinflammation. 2015 Mar;12:49. [ DOI ]
• Groh J, Weis J, Zieger H, Stanley ER, Heuer H, Martini R. Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X. Brain. 2012 Jan;135(Pt 1):88--104. [ DOI ]

Prof. Dr. Moritz Rossner

• Goebbels S, Wieser GL, Pieper A, Spitzer S, Weege B, Yan K, Edgar JM, Yagensky O, Wichert SP, Agarwal A, Karram K, Renier N, Tessier-Lavigne M, Rossner MJ, Káradóttir RT, Nave KA. A neuronal PI(3,4,5)P3-dependent program of oligodendrocyte precursor recruitment and myelination. Nat Neurosci. 2017 Jan;20(1):10--15. [ DOI ]
• Wehr MC, Rossner MJ. Split protein biosensor assays in molecular pharmacological studies. Drug Discov Today. 2016 Mar;21(3):415--429. [ DOI ]
• Sharma K, Schmitt S, Bergner CG, Tyanova S, Kannaiyan N, Manrique-Hoyos N, Kongi K, Cantuti L, Hanisch UK, Philips MA, Rossner MJ, Mann M, Simons M. Cell type- and brain region-resolved mouse brain proteome. Nat Neurosci. 2015 Dec;18(12):1819--1831. [ DOI ]
• Wehr MC, Galinski S, Rossner MJ. Monitoring G protein-coupled receptor activation using the protein fragment complementation technique split TEV. Methods Mol Biol. 2015;1272:107--118. [ DOI ]
• Prukop T, Epplen DB, Nientiedt T, Wichert SP, Fledrich R, Stassart RM, Rossner MJ, Edgar JM, Werner HB, Nave KA, Sereda MW. Progesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model. Am J Hum Genet. 2014 Apr;94(4):533--546. [ DOI ]

Prof. Dr. Sabine Rudnik-Schöneborn

• Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep;99(3):607--623. [ DOI ]
• Rudnik-Schöneborn S, Barisić N, Eggermann K, Ortiz Brüchle N, Grđan P, Zerres K. Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1. Neuromuscul Disord. 2016 Feb;26(2):132--135. [ DOI ]
• Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016 Jan;89(1):34--43. [ DOI ]
• Korinthenberg R, Rudnik-Schöneborn S, Müller-Felber W. S1-Leitlinie. Q9, Differenzialdiagnose der hereditären und erworbenen Neuropathien im Kindes- und Jugendalter. Leitlinien Kinder- und Jugendmedizin Q Neuropädiatrie. 2016;p. 1--20.
• Rudnik-Schöneborn S, Witsch-Baumgartner M, Zerres K. Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis. Gynecol Obstet Invest. 2016;81(5):472--476. [ DOI ]

Prof. Dr. Jan Senderek

• Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep;99(3):607--623. [ DOI ]
• Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LTY, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DLH, Woods CG, Senderek J. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Jul;47(7):803--808. [ DOI ]
• Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015 Feb;84(5):523--531. [ DOI ]
• Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. Neurology. 2014 Nov;83(19):1726--1732. [ DOI ]
• Horn M, Baumann R, Pereira JA, Sidiropoulos PNM, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain. 2012 Dec;135(Pt 12):3567--3583. [ DOI ]

Prof. Dr. Michael Sereda

• Fledrich R, Abdelaal T, Rasch L, Bansal V, Schütza V, Brügger B, Lüchtenborg C, Prukop T, Stenzel J, Rahman RU, Hermes D, Ewers D, Möbius W, Ruhwedel T, Katona I, Weis J, Klein D, Martini R, Brück W, Müller WC, Bonn S, Bechmann I, Nave KA, Stassart RM, Sereda MW.Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. Nat Commun. 2018 Aug 2;9(1):3025. [ DOI ]
• Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatr. 2017 Aug;. [ DOI ]
• Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D, CMT-TRIAAL/CMT-TRAUK Group, Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients. Neuromuscul Disord. 2014 Nov;24(11):1003--1017. [ DOI ]
• Fledrich R, Stassart RM, Klink A, Rasch LM, Prukop T, Haag L, Czesnik D, Kungl T, Abdelaal TAM, Keric N, Stadelmann C, Brück W, Nave KA, Sereda MW. Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A. Nat Med. 2014 Sep;20(9):1055--1061. [ DOI ]
• Stassart RM, Fledrich R, Velanac V, Brinkmann BG, Schwab MH, Meijer D, Sereda MW, Nave KA. A role for Schwann cell-derived neuregulin-1 in remyelination. Nat Neurosci. 2013 Jan;16(1):48--54. [ DOI ]

Prof. Dr. Mikael Simons

• Snaidero N, Velte C, Myllykoski M, Raasakka A, Ignatev A, Werner HB, Erwig MS, Möbius W, Kursula P, Nave KA, Simons M. Antagonistic Functions of MBP and CNP Establish Cytosolic Channels in CNS Myelin. Cell Rep. 2017 Jan;18(2):314--323. [ DOI ]
• Safaiyan S, Kannaiyan N, Snaidero N, Brioschi S, Biber K, Yona S, Edinger AL, Jung S, Rossner MJ, Simons M. Age-related myelin degradation burdens the clearance function of microglia during aging. Nat Neurosci. 2016 Aug;19(8):995--998. [ DOI ]
• Weil MT, Möbius W, Winkler A, Ruhwedel T, Wrzos C, Romanelli E, Bennett JL, Enz L, Goebels N, Nave KA, Kerschensteiner M, Schaeren-Wiemers N, Stadelmann C, Simons M. Loss of Myelin Basic Protein Function Triggers Myelin Breakdown in Models of Demyelinating Diseases. Cell Rep. 2016 Jul;16(2):314--322. [ DOI ]
• Sharma K, Schmitt S, Bergner CG, Tyanova S, Kannaiyan N, Manrique-Hoyos N, Kongi K, Cantuti L, Hanisch UK, Philips MA, Rossner MJ, Mann M, Simons M. Cell type- and brain region-resolved mouse brain proteome. Nat Neurosci. 2015 Dec;18(12):1819--1831. [ DOI ]
• Snaidero N, Möbius W, Czopka T, Hekking LHP, Mathisen C, Verkleij D, Goebbels S, Edgar J, Merkler D, Lyons DA, Nave KA, Simons M. Myelin membrane wrapping of CNS axons by PI(3,4,5)P3-dependent polarized growth at the inner tongue. Cell. 2014 Jan;156(1-2):277--290. [ DOI ]

Prof. Dr. Claudia Sommer

• Doppler K, Kunstmann E, Krüger S, Sommer C. Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation. Muscle Nerve. 2017 May;55(5):752--755. [ DOI ]
• Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S. ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol. 2017 Jan;264(1):11--20. [ DOI ]
• Doppler K, Appeltshauser L, Villmann C, Martin C, Peles E, Krämer HH, Haarmann A, Buttmann M, Sommer C. Auto-antibodies to contactin-associated protein 1 (Caspr) in two patients with painful inflammatory neuropathy. Brain. 2016 Oct;139(Pt 10):2617--2630. [ DOI ]
• Doppler K, Appeltshauser L, Wilhelmi K, Villmann C, Dib-Hajj SD, Waxman SG, Mäurer M, Weishaupt A, Sommer C. Destruction of paranodal architecture in inflammatory neuropathy with anti-contactin-1 autoantibodies. J Neurol Neurosurg Psychiatr. 2015 Jul;86(7):720--728. [ DOI ]
• Mellgren SI, Nolano M, Sommer C. The cutaneous nerve biopsy: technical aspects, indications, and contribution. Handb Clin Neurol. 2013;115:171--188. [ DOI ]

Dr. Ruth Stassart

• Fledrich R, Abdelaal T, Rasch L, Bansal V, Schütza V, Brügger B, Lüchtenborg C, Prukop T, Stenzel J, Rahman RU, Hermes D, Ewers D, Möbius W, Ruhwedel T, Katona I, Weis J, Klein D, Martini R, Brück W, Müller WC, Bonn S, Bechmann I, Nave KA, Stassart RM, Sereda MW.Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. Nat Commun. 2018 Aug 2;9(1):3025. [ DOI ]
• Fledrich R, Stassart RM, Klink A, Rasch LM, Prukop T, Haag L, Czesnik D, Kungl T, Abdelaal TAM, Keric N, Stadelmann C, Brück W, Nave KA, Sereda MW. Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A. Nat Med. 2014 Sep;20(9):1055--1061. [ DOI ]
• Fledrich R, Stassart RM, Sereda MW. Experimental Treatment of Acquired and Inherited Neuropathies. In: Parpura V, Verkhratsky A, editors. Pathological Potential of Neuroglia. Springer New York; 2014. p. 437--472.
• Stassart RM, Fledrich R, Velanac V, Brinkmann BG, Schwab MH, Meijer D, Sereda MW, Nave KA. A role for Schwann cell-derived neuregulin-1 in remyelination. Nat Neurosci. 2013 Jan;16(1):48--54. [ DOI ]
• Fledrich R, Stassart RM, Sereda MW. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull. 2012 Jun;102:89--113. [ DOI ]

Prof. Dr. Maggie C. Walter

• Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP. A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. Neuromuscul Disord 2018;28:532-537.  [ DOI ]
• Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatr. 2017 Aug;. [ DOI ]
• Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, Walter MC, Nagels KH. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016 May;11(1):58. [ DOI ]
• Vill K, Kuhn M, Gläser D, Walter MC, Müller-Felber W. Long-term observations in an affected family with neurogenic scapuloperoneal syndrome caused by a mutation R269C in the TRPV4 Gene. Neuropediatrics 2015;46:282-286. [ DOI ]
• Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJM, Cavanagh DR, Wehnert M, Schirmer EC, Walter MC. Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2015 Feb;25(2):127--136. [ DOI ]

Prof. Dr. Joachim Weis

• Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Towards a functional pathology of hereditary neuropathies. Acta Neuropathol. 2017 Apr;133(4):493--515. [ DOI ]
• Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Akutsu M, Liebmann L, Stolz A, Nietzsche S, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F, Kurth I, Hübner CA, Dikic I. Regulation of endoplasmic reticulum turnover by selective autophagy. Nature. 2015 Jun;522(7556):354--358. [ DOI ]
• Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S. Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS. Nat Neurosci. 2015 Feb;18(2):227--238. [ DOI ]
• Vallat JM, Weis J. Peripheral Nerve Disorders: Pathology and Genetics. John Wiley & Sons; 2014.
• Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J. Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis. Hum Mol Genet. 2013 Apr;22(8):1581--1600. [ DOI ]

Prof. Dr. Peter Young

• Schoser B, Fong E, Geberhiwot T, Hughes D, Kissel JT, Madathil SC, Orlikowski D, Polkey MI, Roberts M, Tiddens HAWM, Young P. Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature. Orphanet J Rare Dis. 2017 Mar;12(1):52. [ DOI ]
• Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P. Ascorbic acid for the treatment of Charcot-Marie-Tooth disease. Cochrane Database Syst Rev. 2015 Dec;(12):CD011952. [ DOI ]
• Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P. Sleep disorders in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatr. 2014 Mar;85(3):319--325. [ DOI ]
• Gess B, Schirmacher A, Boentert M, Young P. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population. Neuromuscul Disord. 2013 Aug;23(8):647--651. [ DOI ]