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22. June 2021 (CMT-net)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Brain. 2021 Jun 22. >>PubMed-Link<<
Manuela Wiessner et al.
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29. May 2019 (CMT-net)
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
Neuromuscul Disord. 2019 May;29(5):392-397. doi: 10.1016/j.nmd.2019.02.007
Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter MC
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1. April 2019 (CMT-net)
NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies
Nat Commun. 2019 Apr 1;10(1):1467
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.
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27. March 2019 (CMT-net)
Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany
Neurology 2019 Mar 27
Schorling S, Thiele S, Gumbert G, Krause S, Klug C, Schreiber-Katz O, Reilich P, Nagels K, Walter MC.
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16. January 2019 (CMT-net)
Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)
PLoS One. 2019 Jan 16;14(1):e0209752. doi: 10.1371/journal.pone.0209752. eCollection 2019.
Prukop T, Stenzel J1, Wernick S, Kungl T, Mroczek M, Adam J, Ewers D, Nabirotchkin S, Nave KA, Hajj R, Cohen D, Sereda MW
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4. December 2018 (CMT-net)
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6.
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.
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20. November 2018 (CMT-net)
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human
Neurobiol Dis. 2018 Nov 20;124:218-229. doi: 10.1016/j.nbd.2018.11.019
Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O’Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.
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2. August 2018 (CMT-net)
Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy
Nat Commun. 2018 Aug 2;9(1):3025. doi: 10.1038/s41467-018-05420-0.
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.
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9. May 2018 (CMT-net)
Macrophage depletion ameliorates peripheral neuropathy in aging mice
JNeurosci. 2018 May 9;38(19):4610-4620.
Yuan X, Klein D, Kerscher S, West B.L, Weis J, Katona I and Martini R
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25. January 2018 (CMT-net)
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 Neuropathol. 2018 Jan;135(1):131-148. doi: 10.1007/s00401-017-1756-0.
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.
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20. November 2017 (CMT-net)
Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A
J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.
Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer T, 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
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22. September 2017 (CMT-net)
Nodes of Ranvier in skin biopsies of patients with diabetes mellitus
J Peripher Nerv Syst. 2017 Sep;22(3):182-190.
Doppler K, Frank F, Koschker AC, Reiners K, Sommer C.
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25. August 2017 (CMT-net)
Hereditary Neuropathies: Update 2017.
Neuropediatrics. 2017 Aug;48(4):282-293.
Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J.
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21. July 2017 (CMT-net)
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.
Lancet Neurol. 2017 Jul;16(7):513-522. doi: 10.1016/S1474-4422(17)30085-6. Epub 2017 Apr 28.
Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators.
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16. June 2017 (CMT-net)
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 Differ. 2017 Oct;24(10):1655-1671. doi: 10.1038/cdd.2017.88.
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.
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7. May 2017 (CMT-net)
Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.
Muscle Nerve. 2017 May;55(5):752-755. doi: 10.1002/mus.25410.
Doppler K, Kunstmann E, Krüger S, Sommer C
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16. March 2017 (CMT-net)
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature
Orphanet J Rare Dis. 2017 Mar 16;12(1):52. doi: 10.1186/s13023-017-0598-0.
Schoser B, Fong E, Geberhiwot T, Hughes D, Kissel JT, Madathil SC, Orlikowski D, Polkey MI, Roberts M, Tiddens HAWM, Young P.
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14. March 2017 (CMT-net)
Presynaptic Calmodulin targets: lessons from structural proteomics.
Expert Rev Proteomics. 2017 Mar;14(3):223-242. doi: 10.1080/14789450.2017.1275966.
Lipstein N, Göth M, Piotrowski C, Pagel K, Sinz A, Jahn O.
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2. March 2017 (CMT-net)
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024.
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.
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8. February 2017 (CMT-net)
Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson’s disease
Acta Neuropathol. 2017 Apr;133(4):535-545. doi: 10.1007/s00401-017-1684-z. Epub 2017 Feb 8
Doppler K, Jentschke HM, Schulmeyer L, Vadasz D, Janzen A, Luster M, Höffken H, Mayer G, Brumberg J, Booij J, Musacchio T, Klebe S, Sittig-Wiegand E, Volkmann J, Sommer C, Oertel WH
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20. January 2017 (CMT-net)
A neuronal PI(3,4,5)P3-dependent program of oligodendrocyte precursor recruitment and myelination.
Nat Neurosci. 2017 Jan;20(1):10-15. doi: 10.1038/nn.4425.
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
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18. January 2017 (CMT-net)
Antagonistic Functions of MBP and CNP Establish Cytosolic Channels in CNS Myelin
Cell Rep. 2017 Jan;18(2):314–323.
Snaidero N, Velte C, Myllykoski M, Raasakka A, Ignatev A, Werner HB, Erwig MS, Möbius W, Kursula P, Nave KA, Simons M
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12. January 2017 (CMT-net)
Partial Immunoblotting of 2D-Gels: A Novel Method to Identify Post-Translationally Modified Proteins Exemplified for the Myelin Acetylome.
Proteomes. 2017 Jan 12;5(1). pii: E3. doi: 10.3390/proteomes5010003.
Kusch K, Uecker M, Liepold T, Möbius W, Hoffmann C, Neumann H, Werner HB, Jahn O.
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7. January 2017 (CMT-net)
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: 10.1007/s00415-016-8301-2.
Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S.
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28. November 2016 (CMT-netMD-Net)
Towards a functional pathology of hereditary neuropathies
Acta Neuropathol. 2016 Nov 28. [Epub ahead of print] Review.
Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J.
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23. November 2016 (CMT-netMD-Net)
Changes of bivalent chromatin coincide with increased expression of developmental genes in cancer
Sci Rep. 2016 Nov 23;6:37393.
Bernhart SH, Kretzmer H, Holdt LM, Jühling F, Ammerpohl O, Bergmann AK, Northoff BH, Doose G, Siebert R, Stadler PF, Hoffmann S.
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1. September 2016 (CMT-netMD-Net)
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
The American Journal of Human Genetics 99, Sept 16
Michaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann,
Catharina Chiari, David L.H. Bennett, Christian Beetz, Dennis Klein, Peter M. Andersen, Ilka Böhme, Regina Fink-Puches, Michael Gonzalez, Matthew B. Harms, William Motley, Mary M. Reilly, Wilfried Renner, Sabine Rudnik-Schöneborn, Beate Schlotter-Weigel, Andreas C. Themistocleous, Jochen H. Weishaupt, Albert C. Ludolph, Thomas Wieland, Feifei Tao, Lisa Abreu, Reinhard Windhager, Manuela Zitzelsberger, Tim M. Strom, Thomas Walther, Steven S. Scherer, Stephan Zu¨chner, Rudolf Martini, and Jan Senderek
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13. June 2016 (CMT-net)
Zeb2 is essential for Schwann cell differentiation, myelination and nerve repair
Nature Neuroscience, Epub 2016 Jun 13
Susanne Quintes, Bastian G Brinkmann, Madlen Ebert, Franziska Fröb, Theresa Kungl, Friederike A Arlt, Victor Tarabykin, Danny Huylebroeck, Dies Meijer, Ueli Suter, Michael Wegner, Michael W Sereda & Klaus-Armin Nave
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