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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study.

Walter MC, Wenninger S, Thiele S, Stauber J, Hiebeler M, Greckl E, Stahl K, Pechmann A, Lochmüller H, Kirschner J, Schoser B.

J Neuromuscul Dis. 2019 Sep 28. doi: 10.3233/JND-190416. [Epub ahead of print]


Evaluation of Nonfatal Strangulation in Alert Adults.

Matusz EC, Schaffer JT, Bachmeier BA, Kirschner JM, Musey PI Jr, Roumpf SK, Strachan CC, Hunter BR.

Ann Emerg Med. 2019 Oct 4. pii: S0196-0644(19)30594-3. doi: 10.1016/j.annemergmed.2019.07.018. [Epub ahead of print]


Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Atchayaram N, Lochmüller H.

Eur J Hum Genet. 2019 Sep 16. doi: 10.1038/s41431-019-0506-2. [Epub ahead of print]


1-Aryl-2-(triisopropylsilyl)ethane-1,2-diones: Toward a New Class of Visible Type I Photoinitiators for Free Radical Polymerization of Methacrylates.

Kirschner J, Baralle A, Graff B, Becht JM, Klee JE, Lalevée J.

Macromol Rapid Commun. 2019 Oct;40(20):e1900319. doi: 10.1002/marc.201900319. Epub 2019 Sep 4.


Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Muntoni F, Desguerre I, Guglieri M, Osorio AN, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL, Mercuri E.

J Comp Eff Res. 2019 Aug 15. doi: 10.2217/cer-2019-0086. [Epub ahead of print]


Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians.

Pechmann A, Langer T, Kirschner J.

Neuropediatrics. 2019 Aug 13. doi: 10.1055/s-0039-1694986. [Epub ahead of print]


Aryliodonium Ylides as Novel and Efficient Additives for Radical Chemistry: Example in Camphorquinone (CQ)/Amine Based Photoinitiating Systems.

Kirschner J, Paillard J, Bouzrati-Zerelli M, Becht JM, Klee JE, Chelli S, Lakhdar S, Lalevée J.

Molecules. 2019 Aug 11;24(16). pii: E2913. doi: 10.3390/molecules24162913.


Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]


Imaging properties of hemispherical electrostatic energy analyzers for high resolution momentum microscopy.

Tusche C, Chen YJ, Schneider CM, Kirschner J.

Ultramicroscopy. 2019 Jul 8;206:112815. doi: 10.1016/j.ultramic.2019.112815. [Epub ahead of print]


Review: In acute dyspnea, lung US has higher sensitivity than chest X-ray for detecting cardiogenic pulmonary edema.

Kirschner JM, Hunter BR.

Ann Intern Med. 2019 Jul 16;171(2):JC11. doi: 10.7326/ACPJ201907160-011. No abstract available.


Discrepancy in redetermination of SMN2 copy numbers in children with SMA.

Schorling DC, Becker J, Pechmann A, Langer T, Wirth B, Kirschner J.

Neurology. 2019 Aug 6;93(6):267-269. doi: 10.1212/WNL.0000000000007836. Epub 2019 Jun 24. No abstract available.


De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

König K, Pechmann A, Thiele S, Walter MC, Schorling D, Tassoni A, Lochmüller H, Müller-Reible C, Kirschner J.

Orphanet J Rare Dis. 2019 Jun 24;14(1):152. doi: 10.1186/s13023-019-1125-2.


In normoxemic suspected MI, oxygen therapy did not reduce all-cause mortality or HF hospitalization at 2 years.

Kirschner JM, Hunter BR.

Ann Intern Med. 2019 Jun 18;170(12):JC63. doi: 10.7326/ACPJ201906180-063. No abstract available.


Painful Foot Disorders in the Geriatric Population: A Narrative Review.

Oh-Park M, Kirschner J, Abdelshahed D, Kim DDJ.

Am J Phys Med Rehabil. 2019 Sep;98(9):811-819. doi: 10.1097/PHM.0000000000001239.


Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.

Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Müller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schröder R; German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network.

Orphanet J Rare Dis. 2019 May 10;14(1):105. doi: 10.1186/s13023-019-1066-9.


Quality of life of patients with spinal muscular atrophy: A systematic review.

Landfeldt E, Edström J, Sejersen T, Tulinius M, Lochmüller H, Kirschner J.

Eur J Paediatr Neurol. 2019 May;23(3):347-356. doi: 10.1016/j.ejpn.2019.03.004. Epub 2019 Mar 21.


Review: In adults with chest pain, a HEART score ≥ 4 has 96% sensitivity and 45% specificity for predicting MACE.

Hunter BR, Kirschner JM.

Ann Intern Med. 2019 Mar 19;170(6):JC35. doi: 10.7326/ACPJ201903190-035. No abstract available.


The clinical course of idiopathic pulmonary fibrosis and its association to quality of life over time: longitudinal data from the INSIGHTS-IPF registry.

Kreuter M, Swigris J, Pittrow D, Geier S, Klotsche J, Prasse A, Wirtz H, Koschel D, Andreas S, Claussen M, Grohé C, Wilkens H, Hagmeyer L, Skowasch D, Meyer JF, Kirschner J, Gläser S, Kahn N, Welte T, Neurohr C, Schwaiblmair M, Held M, Bahmer T, Oqueka T, Frankenberger M, Behr J.

Respir Res. 2019 Mar 15;20(1):59. doi: 10.1186/s12931-019-1020-3.


Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.

Landfeldt E, Edström J, Jimenez-Moreno C, van Engelen BGM, Kirschner J, Lochmüller H.

Patient. 2019 Aug;12(4):365-373. doi: 10.1007/s40271-019-00357-y. Review.


SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Pechmann A, König K, Bernert G, Schachtrup K, Schara U, Schorling D, Schwersenz I, Stein S, Tassoni A, Vogt S, Walter MC, Lochmüller H, Kirschner J.

Orphanet J Rare Dis. 2019 Jan 21;14(1):18. doi: 10.1186/s13023-019-0998-4.


Review: Ultrasound-assisted lumbar puncture (LP) does not increase procedural success but reduces traumatic LPs.

Kirschner JM, Hunter BR.

Ann Intern Med. 2019 Jan 15;170(2):JC9. doi: 10.7326/ACPJC-2019-170-2-009. No abstract available.


[Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience].

Walter MC, Dräger B, Günther R, Hermann A, Hagenacker T, Kleinschnitz C, Löscher W, Meyer T, Schrank B, Schwersenz I, Wurster CD, Ludolph AC, Kirschner J.

Nervenarzt. 2019 Apr;90(4):343-351. doi: 10.1007/s00115-018-0653-7. Review. German.


Is Low-Dose Ketamine an Effective Alternative to Opioids for Acute Pain?

Kirschner JM, Hunter BR.

Ann Emerg Med. 2019 May;73(5):e47-e49. doi: 10.1016/j.annemergmed.2018.11.001. Epub 2018 Dec 11. No abstract available.


Surface Structure of Solutions of Poly(vinyl alcohol) in Water.

Moll CJ, Meister K, Kirschner J, Bakker HJ.

J Phys Chem B. 2018 Nov 29;122(47):10722-10727. doi: 10.1021/acs.jpcb.8b08374. Epub 2018 Nov 14.


Transcranial Direct Current Stimulation for Affective Symptoms and Functioning in Chronic Low Back Pain: A Pilot Double-Blinded, Randomized, Placebo-Controlled Trial.

Mariano TY, Burgess FW, Bowker M, Kirschner J, Van't Wout-Frank M, Jones RN, Halladay CW, Stein M, Greenberg BD.

Pain Med. 2019 Jun 1;20(6):1166-1177. doi: 10.1093/pm/pny188.


Do Orthostatic Vital Signs Have Utility in the Evaluation of Syncope?

Schaffer JT, Keim SM, Hunter BR, Kirschner JM, De Lorenzo RA.

J Emerg Med. 2018 Dec;55(6):780-787. doi: 10.1016/j.jemermed.2018.09.011. Epub 2018 Oct 10. Review.


Nonlocal electron correlations in an itinerant ferromagnet.

Tusche C, Ellguth M, Feyer V, Krasyuk A, Wiemann C, Henk J, Schneider CM, Kirschner J.

Nat Commun. 2018 Sep 13;9(1):3727. doi: 10.1038/s41467-018-05960-5.


[Innovative therapeutic approaches for hereditary neuromuscular diseases].

Kirschner J, Schoser B.

Nervenarzt. 2018 Oct;89(10):1115-1122. doi: 10.1007/s00115-018-0599-9. Review. German.


Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Neubauer K, Boeckelmann D, Koehler U, Kracht J, Kirschner J, Pendziwiat M, Zieger B.

Cytoskeleton (Hoboken). 2019 Jan;76(1):131-136. doi: 10.1002/cm.21479. Epub 2018 Oct 10.


Duchenne muscular dystrophy and caregiver burden: a systematic review.

Landfeldt E, Edström J, Buccella F, Kirschner J, Lochmüller H.

Dev Med Child Neurol. 2018 Oct;60(10):987-996. doi: 10.1111/dmcn.13934. Epub 2018 Jun 14. Review.


Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.

Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B.

Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25.


CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.

Klemann C, Kirschner J, Ammann S, Urbach H, Moske-Eick O, Zieger B, Lorenz MR, Schwarz K, Doostkam S, Ehl S, Korinthenberg R.

Eur J Paediatr Neurol. 2018 Sep;22(5):870-877. doi: 10.1016/j.ejpn.2018.04.003. Epub 2018 Apr 13.


A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.


Long-chain metabolites of vitamin E: Interference with lipotoxicity via lipid droplet associated protein PLIN2.

Schmölz L, Schubert M, Kirschner J, Kluge S, Galli F, Birringer M, Wallert M, Lorkowski S.

Biochim Biophys Acta Mol Cell Biol Lipids. 2018 Aug;1863(8):919-927. doi: 10.1016/j.bbalip.2018.05.002. Epub 2018 May 5.


Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.

Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J.

J Neuromuscul Dis. 2018;5(2):135-143. doi: 10.3233/JND-180315.


Letter to the editor: In reply to Sansone et al.

Langer T, Pechmann A, Wider S, Kirschner J.

Eur J Paediatr Neurol. 2018 Jul;22(4):732. doi: 10.1016/j.ejpn.2018.03.004. Epub 2018 Mar 29. No abstract available.


Interconnected Microphysiological Systems for Quantitative Biology and Pharmacology Studies.

Edington CD, Chen WLK, Geishecker E, Kassis T, Soenksen LR, Bhushan BM, Freake D, Kirschner J, Maass C, Tsamandouras N, Valdez J, Cook CD, Parent T, Snyder S, Yu J, Suter E, Shockley M, Velazquez J, Velazquez JJ, Stockdale L, Papps JP, Lee I, Vann N, Gamboa M, LaBarge ME, Zhong Z, Wang X, Boyer LA, Lauffenburger DA, Carrier RL, Communal C, Tannenbaum SR, Stokes CL, Hughes DJ, Rohatgi G, Trumper DL, Cirit M, Griffith LG.

Sci Rep. 2018 Mar 14;8(1):4530. doi: 10.1038/s41598-018-22749-0.


Increased transgenerational epigenetic variation, but not predictable epigenetic variants, after environmental exposure in two apomictic dandelion lineages.

Preite V, Oplaat C, Biere A, Kirschner J, van der Putten WH, Verhoeven KJF.

Ecol Evol. 2018 Feb 19;8(5):3047-3059. doi: 10.1002/ece3.3871. eCollection 2018 Mar.


Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.


A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC.

J Inherit Metab Dis. 2018 Mar;41(2):187-196. doi: 10.1007/s10545-018-0138-7. Epub 2018 Jan 24.


A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.


Group Velocity Engineering of Confined Ultrafast Magnons.

Chen YJ, Zakeri K, Ernst A, Qin HJ, Meng Y, Kirschner J.

Phys Rev Lett. 2017 Dec 29;119(26):267201. doi: 10.1103/PhysRevLett.119.267201. Epub 2017 Dec 27.


Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.

Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.


Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.

Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.


Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

Nagy M, Mastenbroek TG, Mattheij NJA, de Witt S, Clemetson KJ, Kirschner J, Schulz AS, Vraetz T, Speckmann C, Braun A, Cosemans JMEM, Zieger B, Heemskerk JWM.

Haematologica. 2018 Mar;103(3):540-549. doi: 10.3324/haematol.2017.176974. Epub 2017 Dec 14.


Mitochondrial fatty acid biosynthesis and muscle fiber plasticity in very long-chain acyl-CoA dehydrogenase-deficient mice.

Tucci S, Mingirulli N, Wehbe Z, Dumit VI, Kirschner J, Spiekerkoetter U.

FEBS Lett. 2018 Jan;592(2):219-232. doi: 10.1002/1873-3468.12940. Epub 2018 Jan 4.


Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1.

Pechmann A, Langer T, Wider S, Kirschner J.

Eur J Paediatr Neurol. 2018 Jan;22(1):122-127. doi: 10.1016/j.ejpn.2017.11.001. Epub 2017 Nov 21.


Interferon-free cure of chronic Hepatitis C is associated with weight gain during long-term follow-up.

Schlevogt B, Deterding K, Port K, Siederdissen CHZ, Sollik L, Kirschner J, Mix C, Manns MP, Cornberg M, Wedemeyer H.

Z Gastroenterol. 2017 Sep;55(9):848-856. doi: 10.1055/s-0043-112656. Epub 2017 Sep 12.


Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.


Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

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.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

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