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Publikationen 2020

  • Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee JY, Murcia Pienkowski V, Pollak A, Szymanska K, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain. 2020 Dec 12:awaa410. doi: 10.1093/brain/awaa410. Epub ahead of print. PMID: 33313762.

  • Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2020 Dec 10. doi: 10.1038/s41436-020-01020-w. Epub ahead of print. PMID: 33299146.

  • Moorhouse FJ, Cornell S, Gerstl L, Tacke M, Roser T, Heinen F, Bonfert M, von Stülpnagel C, Wagner M, Borggraefe I. Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents. Sci Rep. 2020 Dec 9;10(1):21543. doi: 10.1038/s41598-020-78218-0. PMID: 33298990; PMCID: PMC7725836.

  • Brugger M, Becker-Dettling F, Brunet T, Strom T, Meitinger T, Lurz E, Borggraefe I, Wagner M. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Ann Clin Transl Neurol. 2021 Jan;8(1):278-283. doi: 10.1002/acn3.51260. Epub 2020 Dec 1. PMID: 33259146; PMCID: PMC7818090.

  • Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2020 Nov 9. doi: 10.1038/s41431-020-00749-x. Epub ahead of print. PMID: 33168985.

  • Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801.

  • Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Kluger G, Muhle H, Møller RS, Platzer K, Santos JL, Bache I, Bertsche A, Bonfert M, Borggräfe I, Broser PJ, Datta AN, Hammer TB, Hartmann H, Hasse-Wittmer A, Henneke M, Kühne H, Lemke JR, Maier O, Matzker E, Merkenschlager A, Opp J, Patzer S, Rostasy K, Stark B, Strzelczyk A, von Stülpnagel C, Weber Y, Wolff M, Zirn B, Hoffmann GF, Kölker S, Syrbe S. The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. Biomedicines. 2020 Oct 28;8(11):456. doi: 10.3390/biomedicines8110456. PMID: 33126500; PMCID: PMC7719266.

  • Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, Voss HV, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, Stuelpnagel CV, Borggraefe I. Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters. Neuropediatrics. 2020 Oct 21. doi: 10.1055/s-0040-1712488. Epub ahead of print. PMID: 33086385.

  • Ruiz Brunner MLM, Cieri ME, Rodriguez Marco MP, Schroeder AS, Cuestas E. Estado nutricional de niños y niñas con parálisis cerebral que asisten a centros de rehabilitación. Dev Med Child Neurol. 2020 Oct 5. doi: 10.1111/dmcn.14680. Epub ahead of print. PMID: 33017056.

  • Ruiz Brunner MLM, Cieri ME, Rodriguez Marco MP, Schroeder AS, Cuestas E. Nutritional status of children with cerebral palsy attending rehabilitation centers. Dev Med Child Neurol. 2020 Dec;62(12):1383-1388. doi: 10.1111/dmcn.14667. Epub 2020 Sep 6. PMID: 32893359.

  • Jarius S, Lechner C, Wendel EM, Baumann M, Breu M, Schimmel M, Karenfort M, Marina AD, Merkenschlager A, Thiels C, Blaschek A, Salandin M, Leiz S, Leypoldt F, Pschibul A, Hackenberg A, Hahn A, Syrbe S, Strautmanis J, Häusler M, Krieg P, Eisenkölbl A, Stoffels J, Eckenweiler M, Ayzenberg I, Haas J, Höftberger R, Kleiter I, Korporal-Kuhnke M, Ringelstein M, Ruprecht K, Siebert N, Schanda K, Aktas O, Paul F, Reindl M, Wildemann B, Rostásy K; in cooperation with the BIOMARKER study group and the Neuromyelitis optica Study Group (NEMOS). Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients. J Neuroinflammation. 2020 Sep 3;17(1):262. doi: 10.1186/s12974-020-01825-1. PMID: 32883358; PMCID: PMC7470445.

  • Tacke M, Kochs EF, Mueller M, Kramer S, Jordan D, Schneider G. Machine learning for a combined electroencephalographic anesthesia index to detect awareness under anesthesia. PLoS One. 2020 Aug 26;15(8):e0238249. doi: 10.1371/journal.pone.0238249. PMID: 32845935; PMCID: PMC7449480.

  • Shieh PB, Bönnemann CG, Müller-Felber W, Blaschek A, Dowling JJ, Kuntz NL, Seferian AM. Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte. Hum Gene Ther. 2020 Aug;31(15-16):787. doi: 10.1089/hum.2020.217. PMID: 32777938; PMCID: PMC7462017.

  • Klotz KA, Schönberger J, Nakamura L, San Antonio-Arce V, Bast T, Wiemer-Kruel A, Schubert-Bast S, Borggraefe I, Syrbe S, Jacobs J. Expectations and knowledge of cannabidiol therapy for childhood epilepsy - A German caregiver survey. Epilepsy Behav. 2020 Oct;111:107268. doi: 10.1016/j.yebeh.2020.107268. Epub 2020 Jul 6. PMID: 32645621.

  • von Kries R, Heinen F, Schnabel D. Umfassende Versorgung bei komplexen Erkrankungen [Comprehensive care for complex diseases]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):797-798. German. doi: 10.1007/s00103-020-03172-1. PMID: 32607813.

  • Parisi C, Hesse N, Tacke U, Pujades Rocamora S, Blaschek A, Hadders-Algra M, Black MJ, Heinen F, Müller-Felber W, Schroeder AS. Analyse der Spontanmotorik im 1. Lebensjahr: Markerlose 3-D-Bewegungserfassung zur Früherkennung von Entwicklungsstörungen [Analysis of motor development within the first year of life: 3-D motion tracking without markers for early detection of developmental disorders]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):881-890. German. doi: 10.1007/s00103-020-03163-2. PMID: 32572501.

  • Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain. 2020 Jul 1;143(7):2106-2118. doi: 10.1093/brain/awaa171. PMID: 32568404; PMCID: PMC7364765. [Borggraefe I]

  • Blaschek A, Vill K, Müller-Felber W, Schara U. Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter – Große Hoffnungen und unbekannte Risiken [Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):891-897. German. doi: 10.1007/s00103-020-03165-0. PMID: 32542436.

  • Bonfert MV, Börner C, Gerstl L, Hannibal I, Mathonia N, Huß K, Rahmsdorf B, Kainz C, Klose B, Koenig H, Urban G, Schandelmaier P, Renner T, Albers L, Krieg SM, Sollmann N, Heinen F, Landgraf MN. Migräne im Kindes- und Jugendalter – Ausblick auf innovative Behandlungsansätze im Rahmen multimodaler Therapiekonzepte [Migraine in childhood and adolescence-neurostimulation as a future innovative approach in terms of a multimodal treatment regimen]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):872-880. German. doi: 10.1007/s00103-020-03169-w. PMID: 32504242.

  • Heinen F. Zusammenarbeit von Pädiatrie und Sozialpädiatrie – Schaffung einer biopsychosozialen Medizin für komplex chronisch kranke Kinder und Jugendliche [Cooperation of pediatrics and social pediatrics to create a biopsychosocial medicine for children with medical complexity]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):806-812. German. doi: 10.1007/s00103-020-03153-4. PMID: 32424557.

  • Heinen F. Early childhood onset migraine - A serious long-term condition. Eur J Paediatr Neurol. 2020 Jul;27:1. doi: 10.1016/j.ejpn.2020.06.017. Epub 2020 Jun 29. PMID: 32680721.

  • Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29. PMID: 32629324.

  • Vill K, Sehri M, Müller C, Hannibal I, Huf V, Idriess M, Gerstl L, Bonfert MV, Tacke M, Schroeder AS, Landgraf MN, Müller-Felber W, Blaschek A. Qualitative and quantitative muscle ultrasound in patients with Duchenne muscular dystrophy: Where do sonographic changes begin? Eur J Paediatr Neurol. 2020 Sep;28:142-150. doi: 10.1016/j.ejpn.2020.06.001. Epub 2020 Jun 23. PMID: 32758414.

  • Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. PMID: 32528171; PMCID: PMC7462745.  Wem ist diese Publikation zuzuordnen? [Vill k]

  • von Stülpnagel C, Hofmeister B, Berweck S, Kluger G, Weber P. Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively. Neuropediatrics. 2020 Oct;51(5):375-376. doi: 10.1055/s-0040-1712486. Epub 2020 May 28. PMID: 32464671.

  • Syrbe S, Stettner GM, Bally J, Borggraefe I, Bien CI, Ferfoglia RI, Huppke P, Kern J, Polster T, Probst-Müller E, Schmid S, Steinfeld R, Strozzi S, Weichselbaum A, Weitz M, Ziegler A, Wandinger KP, Leypoldt F, Bien CG. CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension. Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18. PMID: 32424051.

  • Rémi J, Shen S, Tacke M, Probst P, Gerstl L, Peraud A, Kunz M, Vollmar C, Noachtar S, Borggraefe I. Congruence and Discrepancy of Interictal and Ictal EEG With MRI Lesions in Pediatric Epilepsies. Clin EEG Neurosci. 2020 Nov;51(6):412-419. doi: 10.1177/1550059420921712. Epub 2020 May 18. PMID: 32420750; PMCID: PMC7457449.

  • Blaschek A, Rodrigues M, Ille L, Idriess M, Well T, Warken B, Müller C, Hannibal I, Tacke M, Müller-Felber W, Vill K. Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy? Neuropediatrics. 2020 Oct;51(5):342-348. doi: 10.1055/s-0040-1708859. Epub 2020 May 5. PMID: 32369835.

  • Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J. Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V [Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]. Nervenarzt. 2020 Jun;91(6):518-529. German. doi: 10.1007/s00115-020-00919-8. PMID: 32394004.

  • Schüssler SC, Gerhalter T, Abicht A, Müller-Felber W, Nagel AM, Trollmann R. Rare intronic mutation between Exon 62 and 63 (c.9225-285A>G) of the dystrophin gene associated with atypical BMD phenotype. Neuromuscul Disord. 2020 Aug;30(8):680-684. doi: 10.1016/j.nmd.2020.06.003. Epub 2020 Jun 10. PMID: 32669210.

  • Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthong C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. Gene. 2020 Jul 30;749:144709. doi: 10.1016/j.gene.2020.144709. Epub 2020 Apr 25. PMID: 32339621.

  • Gerstl L, Bonfert MV, Heinen F, Olivieri M, Schroeder AS, Tacke M, Kurnik K, Bidlingmaier C, Reiter K, Borggraefe I. Childhood Arterial Ischaemic Stroke: Clinical Presentation, Risk Factors and Management. Hamostaseologie. 2020 Jun;40(2):165-173. doi: 10.1055/a-1113-0445. Epub 2020 Apr 23. PMID: 32325521.

  • Wendel EM, Baumann M, Barisic N, Blaschek A, Coelho de Oliveira Koch E, Della Marina A, Diepold K, Hackenberg A, Hahn A, von Kalle T, Karenfort M, Kornek B, Lechner C, Leiz S, Merkenschlager A, Nosadini M, Sartori S, Schanda K, Schimmel M, Seemann L, Tüngler V, Waltz S, Wegener-Panzer A, Wiegand G, Reindl M, Rostásy K. High association of MOG-IgG antibodies in children with bilateral optic neuritis. Eur J Paediatr Neurol. 2020 Jul;27:86-93. doi: 10.1016/j.ejpn.2020.04.002. Epub 2020 Apr 15. PMID: 32327391.

  • Schroeder AS, Hesse N, Weinberger R, Tacke U, Gerstl L, Hilgendorff A, Heinen F, Arens M, Dijkstra LJ, Pujades Rocamora S, Black MJ, Bodensteiner C, Hadders-Algra M. General Movement Assessment from videos of computed 3D infant body models is equally effective compared to conventional RGB video rating. Early Hum Dev. 2020 May;144:104967. doi: 10.1016/j.earlhumdev.2020.104967. Epub 2020 Apr 15. PMID: 32304982.

  • Sorg AL, von Kries R, Klemme M, Gerstl L, Weinberger R, Beyerlein A, Lack N, Felderhoff-Müser U, Dzietko M. Risk factors for perinatal arterial ischaemic stroke: a large case-control study. Dev Med Child Neurol. 2020 Apr;62(4):513-520. doi: 10.1111/dmcn.14347. Epub 2019 Sep 5.PMID: 31489622

  • Renner T, Sollmann N, Heinen F, Albers L, Trepte-Freisleder F, Klose B, König H, Krieg SM, Bonfert MV, Landgraf MN. Alleviation of migraine symptoms by application of repetitive peripheral magnetic stimulation to myofascial trigger points of neck and shoulder muscles - A randomized trial. Sci Rep. 2020 Apr 6;10(1):5954. doi: 10.1038/s41598-020-62701-9. PMID: 32249788; PMCID: PMC7136237.

  • Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, Scoto M, Deconinck N, Servais L; SMA-Registry Study Group. Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen. Dev Med Child Neurol. 2020 Mar;62(3):310-314. doi: 10.1111/dmcn.14412. Epub 2019 Dec 4. PMID: 31799720. [Blaschek A.]

  • Froeba-Pohl A, Muehling J, Vill K, Grote V, Komm T, Seitz D, Kappler R, von Schweinitz D. Lymphatic Leakage after Surgery for Neuroblastoma: A Rare Complication? Eur J Pediatr Surg. 2020 Jan 20. doi: 10.1055/s-0039-1701008. Epub ahead of print. PMID: 31958864.

  • Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C. ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. J Clin Neurosci. 2020 Feb;72:31-38. doi: 10.1016/j.jocn.2020.01.041. Epub 2020 Jan 17. PMID: 31959558.

  • Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. PMID: 32144995; PMCID: PMC7175938.

  • Stoecklein S, Hilgendorff A, Li M, Förster K, Flemmer AW, Galiè F, Wunderlich S, Wang D, Stein S, Ehrhardt H, Dietrich O, Zou Q, Zhou S, Ertl-Wagner B, Liu H. Variable functional connectivity architecture of the preterm human brain: Impact of developmental cortical expansion and maturation. Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1201-1206. doi: 10.1073/pnas.1907892117. Epub 2019 Dec 30. PMID: 31888985; PMCID: PMC6969522.

  • Barron LC, Haas N, Hagl C, Schulze-Neick I, Ulrich S, Lehner A, Heinen F, Weinberger R, Rosenthal L, Gerstl L, Dalla-Pozza R. Motor outcome, executive functioning, and health-related quality of life of children, adolescents, and young adults after ventricular assist device and heart transplantation. Pediatr Transplant. 2020 Feb;24(1):e13631. doi: 10.1111/petr.13631. Epub 2019 Dec 29. PMID: 31885156.

  • Lorenz R, Ahting U, Betzler C, Heimering S, Borggräfe I, Lange-Sperandio B. Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia. Nephron. 2020;144(3):156-160. doi: 10.1159/000504412. Epub 2019 Nov 13. PMID: 31722346.

  • Hahn A, Hennermann JB, Huemer M, Kampmann C, Marquardt T, Mengel E, Müller-Felber W, Muschol N, Rohrbach M, Stehling F. Diagnosis and Care of Infants and Children with Pompe Disease. Klin Padiatr. 2020 Feb 18. English. doi: 10.1055/a-1110-7335. Epub ahead of print. PMID: 32069498.

  • Korinthenberg R, Trollmann R, Felderhoff-Müser U, Bernert G, Hackenberg A, Hufnagel M, Pohl M, Hahn G, Mentzel HJ, Sommer C, Lambeck J, Mecher F, Hessenauer M, Winterholler C, Kempf U, Jacobs BC, Rostasy K, Müller-Felber W. Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline. Eur J Paediatr Neurol. 2020 Mar;25:5-16. doi: 10.1016/j.ejpn.2020.01.003. Epub 2020 Jan 7. PMID: 31941581.

  • Dangouloff T, Burghes A, Tizzano EF, Servais L; NBS SMA Study Group. 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands. Neuromuscul Disord. 2020 Jan;30(1):93-103. doi: 10.1016/j.nmd.2019.11.002. Epub 2019 Nov 9. PMID: 31882184. [Müller-Felber W]

  • Hoelz H, Herdl C, Gerstl L, Tacke M, Vill K, von Stuelpnagel C, Rost I, Hoertnagel K, Abicht A, Hollizeck S, Larsen LHG, Borggraefe I. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center. Clin EEG Neurosci. 2020 Jan;51(1):61-69. doi: 10.1177/1550059419876518. Epub 2019 Sep 25. PMID: 31554424.

  • Hofmeister B, von Stülpnagel C, Berweck S, Abicht A, Kluger G, Weber P. Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect? Neuropediatrics. 2020 Feb;51(1):49-52. doi: 10.1055/s-0039-1694976. Epub 2019 Sep 21. PMID: 31541998.

  • Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J. Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1. J Neuromuscul Dis. 2020;7(1):41-46. doi: 10.3233/JND-190441. PMID: 31744015.

  • Czibere L, Burggraf S, Fleige T, Glück B, Keitel LM, Landt O, Durner J, Röschinger W, Hohenfellner K, Wirth B, Müller-Felber W, Vill K, Becker M. High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR. Eur J Hum Genet. 2020 Jan;28(1):23-30. doi: 10.1038/s41431-019-0476-4. Epub 2019 Jul 30. PMID: 31363188; PMCID: PMC6906434.

  • Hesse N, Pujades S, Black MJ, Arens M, Hofmann UG, Schroeder AS. Learning and Tracking the 3D Body Shape of Freely Moving Infants from RGB-D sequences. IEEE Trans Pattern Anal Mach Intell. 2020 Oct;42(10):2540-2551. doi: 10.1109/TPAMI.2019.2917908. Epub 2019 Jun 6. PMID: 31180836.

  • Kuersten M, Tacke M, Gerstl L, Hoelz H, Stülpnagel CV, Borggraefe I Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review. Eur J Med Genet. 2020 Jan;63(1):103628. doi: 10.1016/j.ejmg.2019.02.001.

 
 

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