Johannsen J - Search Results

1

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. Pechmann A, et al. Among authors: johannsen j. J Neuromuscul Dis. 2018;5(2):135-143. doi: 10.3233/JND-180315. J Neuromuscul Dis. 2018. PMID: 29689734 Free PMC article.

2

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.

Johannsen J, Nickel M, Schulz A, Denecke J. Johannsen J, et al. Neuropediatrics. 2016 Jun;47(3):194-6. doi: 10.1055/s-0036-1579784. Epub 2016 Apr 4. Neuropediatrics. 2016. PMID: 27043294

3

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Johannsen J, Hempel M, Diehl T, Haack TB, Denecke J. Johannsen J, et al. Pediatr Neonatol. 2017 Oct;58(5):458-459. doi: 10.1016/j.pedneo.2016.05.007. Epub 2016 Nov 22. Pediatr Neonatol. 2017. PMID: 27989427 Free article. No abstract available.

4

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Kloth K, Denecke J, Hempel M, Johannsen J, Strom TM, Kubisch C, Lessel D. Kloth K, et al. Among authors: johannsen j. Eur J Med Genet. 2017 Sep;60(9):494-498. doi: 10.1016/j.ejmg.2017.07.001. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687526

5

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.

Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer MA, Denecke J, Santer R. Johannsen J, et al. Neurogenetics. 2018 Aug;19(3):151-156. doi: 10.1007/s10048-018-0549-5. Epub 2018 May 28. Neurogenetics. 2018. PMID: 29808465

6

Exome Sequencing in Children.

Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M. Mahler EA, et al. Among authors: johannsen j. Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197. Dtsch Arztebl Int. 2019. PMID: 31056085 Free PMC article.

7

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.

Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J. Johannsen J, et al. J Pediatr Genet. 2019 Dec;8(4):222-225. doi: 10.1055/s-0039-1685501. Epub 2019 Apr 20. J Pediatr Genet. 2019. PMID: 31687261 Free PMC article.

8

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

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. Pechmann A, et al. Among authors: johannsen j. J Neuromuscul Dis. 2020;7(1):41-46. doi: 10.3233/JND-190441. J Neuromuscul Dis. 2020. PMID: 31744015

9

[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)].

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. Ziegler A, et al. Among authors: johannsen j. Nervenarzt. 2020 Jun;91(6):518-529. doi: 10.1007/s00115-020-00919-8. Nervenarzt. 2020. PMID: 32394004 Review. German.

10

The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

Johannsen J, Fuhrmann L, Grolle B, Morgenstern L, Wiegand-Grefe S, Denecke J. Johannsen J, et al. Health Qual Life Outcomes. 2020 Jul 9;18(1):219. doi: 10.1186/s12955-020-01467-0. Health Qual Life Outcomes. 2020. PMID: 32646436 Free PMC article.

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