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Universitätsklinikum Essen
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Forschung & Lehre

Publikationen

Hier finden Sie die Publikationen der letzten Jahre aus unseren Fachbereichen:

2019

 

2018

2017

  • Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain. 2017;140(11): 2838-2850 (Impact(2016)=10.292, Typ=Article; Journal Article)  Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH
  • Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemp Clin Trials. 2017;58: 34-39 (Impact(2016)=2.095, Typ=Article; Journal Article) Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC
  • Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS). Eur J Paediatr Neurol. 2017;21(5): 697-698 (Impact(2016)=2.013, Typ=Editorial Material; Editorial) Schara U
  • Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101): 1489-1498 (Impact(2016)=47.831, Typ=Article; Journal Article) McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group , ACT DMD Study Group , Alfano LN, Eagle M, James MK, Lowes L, Mayhew A, Mazzone ES, Nelson L, Rose KJ, Abdel-Hamid HZ, Apkon SD, Barohn RJ, Bertini E, Bloetzer C, de Vaud LC, Butterfield RJ, Chabrol B, Chae JH, Jongno-Gu DR, Comi GP, Darras BT, Dastgir J, Desguerre I, Escobar RG, Finanger E, Guglieri M, Hughes I, Iannaccone ST, Jones KJ, Karachunski P, Kudr M, Lotze T, Mah JK, Mathews K, Nevo Y, Parsons J, Péréon Y, de Queiroz Campos Araujo AP, Renfroe JB, de Resende MBD, Ryan M, Selby K, Tennekoon G, Vita G
  • 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;16(7): 513-522 (Impact(2016)=26.284, Typ=Article; Journal Article; Randomized Controlled Trial; Multicenter Study; Clinical Trial, Phase II) 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 , André C, Bruno C, Chabrol B, Deconinck N, Estournet B, Fontaine-Carbonnel S, Goemans N, Gorni K, Govoni A, Guglieri M, Lochmuller H, Magri F, Mayer M, Müller-Felber W, Rivier F, Roper H, Schara U, Scoto M, van den Berg L, Vita G, Walter MC
  • Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18): 1723-1732 (Impact(2016)=72.406, Typ=Article; Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study) Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC, ENDEAR Study Group , Bradley WG, Schroth MK, Bodensteriner JB, Davis CS, Shell R, Hen J, Austin ED, Aziz-Zaman S, Cappell J, Constantinescu A, Cruz R, Dastgir J, Dunaway S, Engelstad K, Gormley M, Holuba La Marca N, Khandji A, Kramer S, Marra J, Ortiz-Miller C, Popolizio M, Salazar R, Sanabria L, Weimer L, Anand P, Gadeken R, Golumbek PT, Siener C, Zaidman CM, Al-Ghamdi F, Berde C, Ghosh P, Graham R, Harrington T, Koka A, Laine R, Liew W, Mirek E, Ordonez G, Pasternak A, Quigley J, Sethna N, Souris M, Szelag H, Wand L, Day JW, D'Souza G, Duong TT, Gee R, Kitsuwa-Lowe J, McFall D, Patnaik S, Paulose S, Perez J, Proud C, Purse B, Ramamurthi RJ, Sakamuri S, Sampson J, Sanjanwala B, Tesi Rocha AC, Watson K, Welsh L, Pena LDM, Case L, Coates J, DeArmey S, Homi MM, Milleson C, Nelson N, Ross A, Smith E, Taicher B, Wootton J, Finanger E, Benjamin D, Frank A, Roberts C, Russman B, Zilke K, Berry D, Civitello M, Cook D, Endsley JD, Johnson C, Kasper M, Leon W, Lim A, O'Reardon K, Sigurdardottir LY, Turner J, Weber-Guzman F, Zinn M, Iannaccone ST, Castro D, Cowie M, Farrow-Gillespie A, Herbert A, Kauk M, McElroy D, Miller N, Nelson L, Smith L, Spain T, Trest S, Johnson N, Butterfield R, DiBella D, Mayne K, Newcomb TM, Rausch N, Blomgren C, Choi HW, Epstein L, Goldman S, Krosschell K, Krueger J, Kurz J, Rao V, Parsons J, Allen V, Bielsky A, Booker K, Camuto A, Carry T, Fuhr P, Gibbons M, Janas J, Johnson H, Kelly C, Lord-Halvorson LS, Nicolarsen S, Shea S, Tran V, VanderVeen G, Yang M, Zimmerman C, Shieh P, Parziale N, Rao L, Said JW, Shu F, Skura C, Staudt L, Tennekoon G, Adang L, Brandsema J, Chadehumbe M, Flickinger J, Kichula E, Stanford D, Toms M, Zigmont J, Oskoui M, Arpin S, Dinunzio P, Ingelmo PM, Poulin C, Rivera G, Sabapathy C, Srour M, Turgeon-Desilet S, Zielinski D, Selby K, King C, Lee J, Michoulas A, Roland E, Vajsar J, Chau V, Dowling J, Haldenby R, Miki M, So S, Pascual Pascual SI, Martinez Bermejo A, Epinosa Garcia S, Garcia Guixot S, Martinez Moreno MM, del Pilar Tirado Requero M, del Mar Garcia Romero M, Aguilar C, Munell Casadesus F, Gomez Garcia de la Banda MB, Gallardo M, Gili G, Alavarez Molinero M, de Los Angeles Tormos Munoz M, Palacios NJ, Planas Pascual B, del Mar Melendez Plumed M, Rucian AF, Toro Tamargo E, Gratacos Vinola M, Borell S, Eckenweiler M, Krüger M, Pechmann A, Rippberger B, Stein S, Vogt S, Wider S, Schara U, Andres B, Della Marina A, Ganfuss A, Jachertz P, Koelbel H, Rupprich K, Schroers ES, Sponemann N, Bruno C, Fiorillo C, Garaventa A, Lanteri P, Lanzillotta V, Manzitti C, Pedermonte M, Tacchetti P, Trucco F, Zuffi A, De Sanctis R, Fanelli L, Luigetti M, Palermo C, Pane M, Piastra M, Sivo S, Gargaun E, Gidaro T, Gilabert S, Léger PL, Le Moing AG, Lilien C, Mayer M, Ollievier Q, Rambaud J, Taytard J, Vialle R, Voit T, Muntoni F, D'Argenzio L, Lister PH, Manzur A, Pisco Domingos J, Ramsey D, Ricotti V, Schottlaender L, Scoto M, Scuplak SM, Selby V, Straub V, Baily S, Bertoli M, Mayhew AG, Lofra RM, Murphy A, Wood C, Darin N, Eldblom J, Kimber E, Kroksmark AK, Lindstedt A, Michael E, Sofou K, Deconinck N, Christiaens A, Coppens S, DeCock K, De Vos voor E, Dorban F, Gilbert G, Rooze S, Tahon V, Van Coster R, Van Der Looven R, Vanlander A, Vens D, Verhelst H, Wenderickx B, Wittevrongel S, Farrar M, Berthon-Jones N, Doumit MA, Herbert KJ, Kandula T, Morrison M, O'Brien J, Richardson S, Ferreira Sampaio HA, Teoh HL, Ryan M, Carroll KM, De Valle KL, Villano D, Woodcock I, Yiu EM, Ardicli D, Gunbey C, Haliloglu VG, Karaduman AA, Konuskan B, Yildiz Sarikaya FG, Serdaroglu E, Tanyildiz M, Temucin CM, Yildirim M, Yilmaz OT, Arakawa R, Chiba Y, Eto K, Hirasawa K, Ikai T, Ito S, Ito Y, Kaburagi Y, Kaneko H, Matsumaru S, Matsushima N, Mizuochi K, Nagata S, Nakatsukasa H, Nishikawa A, Otani Y, Sato T, Shichiji M, Sugimoto K, Takeshita A, Yanagishita T, Yamauchi A, Takeshima Y, Fujino T, Fukuda N, Lee T, Oriyama K, Shibano T, Shimomura H, Tachikawa T, Tanaka Y, Taniguchi N, Chae JH, Choi SA, Chun SM, Jo H, Kim H, Kim SY, Lee JS, Lim BC, Shin HI, Son WS, Chan S, Chung AC, Yan CS, Stella C, Joseph CKW, Ng CS, Alvin HCC, Janice IJK, Wendy LWM, Chui-San MN, Ki NY, Shun TN, Connie WY, Virginia WC, Yvonne Y, Jong YJ, Chen TH, Chou PC, Chou YH, Chung HW, Hsu JH, Ju YH, Liang WC, Shih HH, Wang HY, Wu YC, Zeng YS
  • [Spinal muscular atrophy : Time for newborn screening?] Nervenarzt. 2017;88(12): 1358-1366 (Impact(2016)=0.872, Typ=Article; Journal Article; Review; English Abstract) Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter MC, Müller-Felber W
  • A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology. 2017;89(17): 1811-1820 (Impact(2016)=7.592, Typ=Article; Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study) Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D, Tadalafil DMD Study Group , Abdel-Hamid H, Apkon S, Barohn R, Belousova E, Bertini E, Brandsema J, Bruno C, Burnette W, Butterfield R, Byrne B, Campbell C, Carlo J, Chae JH, Chandratre S, Comi G, Connolly A, De Groot I, Deconinck N, Dooley J, Dubrovsky A, Durigneux J, Finanger E, Finkel R, Frank LM, Goemans N, Harper A, Hattori A, Herguner O, Iannaccone S, Janas J, Jong YJ, Kirschner J, Komaki H, Kuntz N, Lee WT, Leung E, Mah J, Mathews K, McDonald C, Mercuri E, McMillan H, Mueller-Felber W, Lopez de Munain A, Nakamura A, Niks E, Ogata K, Pascual S, Pegoraro E, Pereon Y, Renfroe B, Sanka RB, Schallner J, Schara U, Selby K, Sendra II, Servais L, Smith E, Sparks S, Topaloglu H, Victor R, Vilchez JJ, Wicklund M, Wilichoswki E, Wong B
  • Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study Neuromuscul Disord. 2017;27 2: S170-S170 (Impact(2016)=2.969, Typ=Journal Article) Annoussamy M, Lilien C, Gidaro T, Gargaun E, Che V, Schara U, DAmico A, Daron A, Cuisset J, Mayer M, Hernandez A, Vuillerot C, Fontaine S, de Lattre C, Bellance R, V , Buj-Bello A, Hogrel J, Landy H, Servais L
  • Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy Neuromuscul Disord. 2017;27 2: S134-S134 (Impact(2016)=2.969, Typ=Article) Chabanon A, Annoussamy M, Daron A, Pereon Y, Cances C, Vuillerot C, Goemans N, Cuisset J, Laugel V, Schara U, Gargaun E, Gidaro T, Seferian A, Lowes L, Carlier P, Hogrel J, Czech C, Hermosilla R, Khwaja O, Servais L
  • Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim results Neuromuscul Disord. 2017;27 2: S207-S208 (Impact(2016)=2.969, Typ=Journal Article) Charnas L, Voltz E, Pfister C, Peters T, Hartmann A, Berghs-Clairmont C, Praestgaard J, de Raspide M, Deconinck N, Born A, Baranello G, Bertini E, Schara U, Goemans N, Roubenoff R
  • New myotubular myopathy classification Neuromuscul Disord. 2017;27 2: S169-S169 (Impact(2016)=2.969, Typ=Article) Lilien C, Annoussamy M, Gidaro T, Gargaun E, Che V, Schara U, DAmico A, Daron A, Cuisset J, Mayer M, Hernandez A, Vuillerot C, Fontaine S, deLattre C, Bellance R, Biancalana V, Buj-Bello A, Hogrel J, Landy H, Servais L
  • Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2017;27(4): 307-314 (Impact(2016)=2.969, Typ=Article; Journal Article; Multicenter Study) Meier T, Rummey C, Leinonen M, Spagnolo P, Mayer OH, Buyse GM, DELOS Study Group , Bernert G, Knipp F, Buyse GM, Goemans N, Van den Hauwe M, Voit T, Doppler V, Gidaro T, Cuisset JM, Coopman S, Schara U, Lutz S, Kirschner J, Borell S, Will M, D'Angelo MG, Brighina E, Gandossini S, Gorni K, Falcier E, Politano L, D'Ambrosio P, Taglia A, Verschuuren JJ, Straathof CS, Vílchez Padilla JJ, Muelas Gómez N, Sejersen T, Hovmöller M, Jeannet PY, Bloetzer C, Iannaccone S, Castro D, Tennekoon G, Finkel R, Bönnemann C, McDonald C, Henricson E, Joyce N, Apkon S, Richardson RC
  • A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis Neuromuscul Disord. 2017;27 2: S243-S243 (Impact(2016)=2.969, Typ=Journal Article) Sanchez-Albisua I, Kaiser O, Rupprich K, Kolbel H, Della A, Schara U
  • Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy. Neuromuscul Disord. 2017;27(7): 631-634 (Impact(2016)=2.969, Typ=Article; Journal Article) Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S
  • Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis. Neuropediatrics. 2017;48(4): 315-322 (Impact(2016)=1.571, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Della Marina A, Kölbel H, Müllers M, Kaiser O, Ismail M, Swierzy M, Rueckert JC, Schara U
  • Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. PLoS ONE. 2017;12(3): e0173144 (Impact(2016)=2.806, Typ=Article; Journal Article) Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U
  • Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. PLoS ONE. 2017;12(4): e0175611 (Impact(2016)=2.806, Typ=Correction; Published Erratum) Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U
  • Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy. Pediatr Pulmonol. 2017;52(4): 508-515 (Impact(2016)=2.758, Typ=Article; Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study) Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM, DELOS Study Group

2016

  • Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis. Acta Neuropathol Commun. 2016;4(1): 45 (Impact: liegt nicht vor, Typ=Journal Article; Article) Preuße C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, Doeser A, Schneider U, Alten RH, Kallinich T, Benveniste O, von Moers A, Schoser B, Schara U, Stenzel W
  • CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016;98(2): 310-21 (Impact(2016)=9.025, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ
  • EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016;139(Pt 3): 765-81 (Impact(2016)=10.292, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
  • Congenital and childhood-onset myotonic dystrophy: importance of long-term data in natural history. Dev Med Child Neurol. 2016;58(7): 652 (Impact(2016)=3.116, Typ=Journal Article; Editorial) Schara U
  • Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis. 2016;39(3): 427-36 (Impact(2016)=3.97, Typ=Journal Article; Article) Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R
  • Infant with the early development of Neuropathy, Clubfoot and progressive Weakness of the Respiratory Musculature Monatsschr Kinderheilkd. 2016;164(2): 86-U9 Impact(2016)=0.31, Typ=Editorial) Lubojanski A, Lutz S, Kolbel H, Bouikidis A, Schara U
  • Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2016;26(8): 473-80 (Impact(2016)=2.969, Typ=Journal Article; Article) McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM, DELOS Study Group , Bernert G, Knipp F, Buyse GM, Goemans N, van den Hauwe M, Voit T, Doppler V, Gidaro T, Cuisset JM, Coopman S, Schara U, Lutz S, Kirschner J, Borell S, Will M, D'Angelo MG, Brighina E, Gandossini S, Gorni K, Falcier E, Politano L, D'Ambrosio P, Taglia A, Verschuuren JJ, Straathof CS, Vílchez Padilla JJ, Muelas Gómez N, Sejersen T, Hovmöller M, Jeannet PY, Bloetzer C, Iannaccone S, Castro D, Tennekoon G, Finkel R, Bönnemann C, McDonald C, Henricson E, Joyce N, Apkon S, Richardson RC
  • Invitation and a Warm Welcome to the 42nd Annual Meeting of the Society for Neuropediatrics. Neuropediatrics. 2016;47(2): 69 (Impact(2016)=1.571, Typ=Editorial; Editorial) Schara U, Lücke T
  • Abstracts of the 42nd Annual Meeting of the Society for Neuropediatrics Neuropediatrics. 2016;47 1: - (Impact(2016)=1.571, Typ=Editorial) Schara U, Lucke T
  • 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
  • Tacke M, Gerstl L, Heinen F, Heukaeufer I, Bonfert M, Bast T, Cornell S, Neubauer BA, Borggraefe I; German HEAD Study group. Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS. Eur J Paediatr Neurol. 2016 Nov; 20(6):874-879.

2015

  • The L-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids. Amino Acids. 2015;47(9): 1853-63 (Impact(2015)=3.196, Impact(2016)=3.173, Typ=Journal Article; Article) Hörster I, Weigt-Usinger K, Carmann C, Chobanyan-Jürgens K, Köhler C, Schara U, Kayacelebi AA, Beckmann B, Tsikas D, Lücke T
  • Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders. Chron Respir Dis. 2015;12(1): 31-5 (Impact(2015)=1.646, Impact(2016)=1.818, Typ=Journal Article; Article) Stehling F, Bouikidis A, Schara U, Mellies U
  • Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging. Eur Radiol. 2015;25(10): 3066-72 (Impact(2015)=3.64, Impact(2016)=3.967, Typ=Journal Article; Article)
    Schelhorn J, Schoenecker A, Neudorf U, Schemuth H, Nensa F, Nassenstein K, Forsting M, Schara U, Schlosser T
  • Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. Front Genet. 2015;6: 21 (Impact(2016)=3.789, Typ=Journal Article; Article) Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H
  • Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. Int J Biochem Cell Biol. 2015;63: 32-40 (Impact(2015)=3.905, Impact(2016)=3.505, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Boczonadi V, Giunta M, Lane M, Tulinius M, Schara U, Horvath R
  • Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Lancet. 2015;385(9979): 1748-57 (Impact(2015)=44.002, Impact(2016)=47.831, Typ=Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study; Research Support, Non-U.S. Gov't; Article)
    Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T, DELOS Study Group , Bernert G, Knipp F, Buyse GM, Goemans N, van den Hauwe M, Voit T, Doppler V, Gidaro T, Cuisset JM, Coopman S, Schara U, Lutz S, Kirschner J, Borell S, Will M, D'Angelo MG, Brighina E, Gandossini S, Gorni K, Falcier E, Politano L, D'Ambrosio P, Taglia A, Verschuuren JJ, Straathof CS, Vílchez Padilla JJ, Muelas Gómez N, Sejersen T, Hovmöller M, Jeannet PY, Bloetzer C, Lannaccone S, Castro D, Tennekoon G, Finkel R, Bönnemann C, McDonald C, Henricson E, Joyce N, Apkon S, Richardson RC
  • Child and juvenile Myasthenia in Patients under 18 Years of Age Monatsschr Kinderheilkd. 2015;163(5): 493-494 (Impact(2015)=0.341, Impact(2016)=0.31, Typ=Editorial) Della Marina A, Abicht A
  • Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015;84(5): 523-31 (Impact(2015)=8.166, Impact(2016)=7.592, Typ=Journal Article; Case Reports; Research Support, Non-U.S. Gov't; Article) 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
  • GNP Membership Survey \ Neuropediatrics. 2015;46(3): 230-232 (Impact(2015)=1.291, Impact(2016)=1.571, Typ=Editorial) Kieslich M, Lutz S, Sprinz A
  • Cerebellar-dependent associative learning is preserved in Duchenne muscular dystrophy: a study using delay eyeblink conditioning. PLoS ONE. 2015;10(5): e0126528 (Impact(2015)=3.057, Impact(2016)=2.806, Typ=Journal Article; Article)
    Schara U, Busse M, Timmann D, Gerwig M 
  • Tschiedel E, Müller O, Schara U, Felderhoff-Müser U, Dohna-Schwake C. Sedation monitoring during open muscle biopsy in children by Comfort Score and Bispectral Index - a prospective analysis. Paediatr Anaesth. 2015 Mar;25(3):265-71

2014

  • Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
    Clin Neuropathol. 2014;33(5): 335-43 (Impact(2014)=1.528, Impact(2016)=1.532, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S
  • Growth and psychomotor development of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2014;18(1): 38-44 (Impact(2014)=2.301, Impact(2016)=2.013, Typ=Journal Article; Article) Sarrazin E, Hagen MV, Schara U, von Au K, Kaindl AM
  • Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312(1): 68-77 (Impact(2014)=35.289, Impact(2016)=44.405, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF
  • Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study. Neuromuscul Disord. 2014;24(2): 134-42 (Impact(2014)=2.638, Impact(2016)=2.969, Typ=Journal Article; Article)
    Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R
  • Juvenile myasthenia gravis: recommendations for diagnostic approaches and treatment. Neuropediatrics. 2014;45(2): 75-83 (Impact(2014)=1.24, Impact(2016)=1.571, Typ=Journal Article; Review) Della Marina A, Trippe H, Lutz S, Schara U
  • Releases from the society for paediatric Neuropediatrics. 2014;45(2): 132-132 (Impact(2014)=1.24, Impact(2016)=1.571, Typ=Editorial) Schara U
  • Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy. Neuropediatrics. 2014;45(5): 333-5 (Impact(2014)=1.24, Impact(2016)=1.571, Typ=Journal Article; Article)
    Trippe H, Wieczorek S, Kötting J, Kress W, Schara U 
  • Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014 Apr;24(4):289-311
  • Wiesweg M, Aydin S, Koeninger A, Stein A, Schara U, van Roye C, Hense J, Welt A, Schuler M. Administration of Gemcitabine for Metastatic Adenocarcinoma during Pregnancy: A Case Report and Review of the Literature. AJP Rep. 2014 May;4(1):17-22.

2013

  • Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study).
    Eur J Paediatr Neurol. 2013;17(5): 507-14 (Impact(2013)=1.934, Impact(2016)=2.013, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Borggraefe I, Bonfert M, Bast T, Neubauer BA, Schotten KJ, Maßmann K, Noachtar S, Tuxhorn I, May TW, Heinen F, German HEAD Study Group , Baumeister FA, Baethmann M, Bentele K, Blank C, Blank CM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Muhle H, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Stephani U, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M
  • Morphological spectrum and clinical features of myopathies with tubular aggregates.
    Histol Histopathol. 2013;28(8): 1041-54 (Impact(2013)=2.236, Impact(2016)=2.025, Typ=Journal Article; Article) Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG
  • Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Hum Mol Genet. 2013;22(22): 4602-15 (Impact(2013)=6.677, Impact(2016)=5.34, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R
  • Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience.
    J Child Neurol. 2013;28(3): 321-31 (Impact(2013)=1.666, Impact(2016)=1.378, Typ=Journal Article; Article) Schleede L, Bueter W, Baumgartner-Sigl S, Opladen T, Weigt-Usinger K, Stephan S, Smitka M, Leiz S, Kaiser O, Kraus V, van Baalen A, Skopnik H, Hartmann H, Rostasy K, Lücke T, Schara U, Häusler M
  • NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome. JIMD Rep. 2013;10: 17-22 (Impact: liegt nicht vor, Typ=Journal Article)
    Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R
  • The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
    Muscle Nerve. 2013;48(3): 343-56 (Impact(2013)=2.311, Impact(2016)=2.605, Typ=Journal Article; Randomized Controlled Trial; Multicenter Study; Article)
    McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM, PTC124-GD-007-DMD Study Group , Spiegel R, Barth J, Elfring G, Reha A, Peltz S, Ryan M, Jones K, Goemans N, Campbell C, Mah J, Selby K, Voit T, Chabrol B, Pereon Y, Schara U, Kirschner J, Bertini E, Mercuri E, Comi G, Nevo Y, Vilchez J, Colomer J, Children S, Tulinius M, Sejersen T, Bushby K, Muntoni F, Quinlivan RC, Wong B, Finkel RS, Sampson JB, Flanigan KM, Butterfield R, Day JW, Mathews K, Darras BT, Apkon SD, Parsons J, Barohn R, Connolly A, Iannaccone S, Sproule DM, Kaufman P, Han JJ, Joyce NC, Renfroe J, Russman BS, Burns-Wechsler S, Moore SA, Sweeney HL, Coleman K
  • The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve. 2013;48(3): 357-68 (Impact(2013)=2.311, Impact(2016)=2.605, Typ=Journal Article; Randomized Controlled Trial; Multicenter Study; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Article) McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, PTC124-GD-007-DMD Study Group , Spiegel R, Barth J, Elfring G, Reha A, Peltz SW, Ryan M, Jones K, Goemans N, Campbell C, Mah J, Selby K, Voit T, Chabrol B, Pereon Y, Schara U, Kirschner J, Bertini E, Mercuri E, Comi G, Nevo Y, Vilchez J, Colomer J, Children S, Tulinius M, Sejersen T, Bushby K, Muntoni F, Quinlivan RC, Wong B, Finkel RS, Sampson JB, Flanigan KM, Butterfield R, Day JW, Mathews K, Darras BT, Apkon SD, Parsons J, Barohn R, Connolly A, Iannaccone S, Sproule DM, Kaufman P, Han JJ, Joyce NC, Renfroe J, Russman BS, Burns-Wechsler S, Moore SA, Sweeney HL, Coleman K
  • De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology. 2013;81(22): 1953-8 (Impact(2013)=8.303, Impact(2016)=7.592, Typ=Journal Article; Article) Mademan I, Deconinck T, Dinopoulos A, Voit T, Schara U, Devriendt K, Meijers B, Lerut E, De Jonghe P, Baets J
  • Self-reported quality of life and depressive symptoms in children, adolescents, and adults with Duchenne muscular dystrophy: a cross-sectional survey study.
    Neuropediatrics. 2013;44(5): 257-64 (Impact(2013)=1.104, Impact(2016)=1.571, Typ=Journal Article; Article) Elsenbruch S, Schmid J, Lutz S, Geers B, Schara U
  • Transaction of the Society for Pediatric Neurology Neuropediatrics. 2013;44(4): 179-179 (Impact(2013)=1.104, Impact(2016)=1.571, Typ=Editorial)
    Schara U, Plecko B
  • Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet. 2013;9(6): e1003430 (Impact(2013)=8.167, Impact(2016)=6.1, Typ=Journal Article; Research Support, Non-U.S. Gov't; Article) Böhm J, Vasli N, Maurer M, Cowling B, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J 
  • Della Marina A, Lutz S, Trippe H, Schara U. Myasthenia gravis bei Kindern und Jugendlichen. Klinischer Verlauf und Therapie. Pädiat.prax. 80, 437-446 (2013)

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