Dr.med. ID: 58218

Jessika Johannsen

graph of relations

Publications

  1. 2024
  2. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

    Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J-H., Ge, Y-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A., Emrick, L. T., Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 03.05.2024, In: BRAIN. 147, 5, p. 1837-1855 19 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis

    Grinstein, L., Hecher, L., Weiss, D., Johannsen, J. & Denecke, J., 04.2024, In: NEUROPEDIATRICS. 55, 2, p. 117-123 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  4. 2023
  5. Akute MOG-Antikörper positive Encephalomyelitis bei einer 17 Jahre alten Patientin

    Gärtner, J. M., Johannsen, J. & Denecke, J., 01.06.2023, In: Neuropäd Klin Prax. 22, 3, p. 112-115

    Research output: SCORING: Contribution to journalCase reportResearchpeer-review

  6. Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

    Nikolaus, M., Rausch, P., Rostásy, K., Bertolini, A., Wickström, R., Johannsen, J., Denecke, J., Breu, M., Schimmel, M., Diepold, K., Haeusler, M., Quade, A., Berger, A., Rosewich, H., Steen, C., von Au, K., Dreesmann, M., Finke, C., Bartels, F., Kaindl, A. M., Schuelke, M. & Knierim, E., 05.2023, In: NEUROL-NEUROIMMUNOL. 10, 3, e200102.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. Interventionelle Behandlung eines Riesenaneurysma der extrakraniellen Arteria carotis interna bei einem 4-jährigen Kind: ein Fallbericht

    Weiss, D., Strohm, T., Johannsen, J., Buhk, J-H. & Denecke, J., 01.04.2023, In: Neuropäd Klin Prax. 22, 2, p. 68-71

    Research output: SCORING: Contribution to journalCase reportTransferpeer-review

  8. Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

    Inhestern, L., Brandt, M., Driemeyer, J., Denecke, J., Johannsen, J. & Bergelt, C., 31.03.2023, In: INT J ENV RES PUB HE. 20, 7, p. 5360

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

    Zang, J., Johannsen, J., Denecke, J., Weiss, D., Koseki, J-C., Nießen, A., Müller, F., Nienstedt, J. C., Flügel, T. & Pflug, C., 03.2023, In: EUR ARCH OTO-RHINO-L. 280, 3, p. 1329-1338 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  10. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Schwersenz, I., Walter, M. C., Baumann, M., Baumgartner, M., Deschauer, M., Eisenkölbl, A., Flotats-Bastardas, M., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Stögmann, E., Trollmann, R., Vill, K., Weiß, C., Wiegand, G., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 13.02.2023, In: BRAIN. 146, 2, p. 668-677 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  11. High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

    Johannsen, J., Weiss, D., Driemeyer, J., Olfe, J., Stute, F., Müller, F., Schütt, M., Trollmann, R., Kölbel, H., Schara-Schmidt, U., Kirschner, J., Pechmann, A., Blaschek, A., Horber, V. & Denecke, J., 2023, In: FRONT PEDIATR. 11, p. 1259293

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  12. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Steinbach, M., Blaschek, A., Baumann, M., Baumgartner, M., Becker, B., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Küpper, H., Johannsen, J., Kamm, C., Koch, J. C., Köhler, C., Kölbel, H., Kolzter, K., von Moers, A., Naegel, S., Neuwirth, C., Petri, S., Rödiger, A., Schimmel, M., Schrank, B., Schreiber, G., Smitka, M., Stadler, C., Steiner, E., Stögmann, E., Trollmann, R., Türk, M., Weiler, M., Stoltenburg, C., Willichowsky, E., Zeller, D., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 2023, In: J NEUROMUSCULAR DIS. 10, 1, p. 29-40 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  13. 2022
  14. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Bertsche, A., Vill, K., Baumann, M., Baumgartner, M., Cordts, I., Eisenkölbl, A., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Jahnel, J., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schwerin-Nagel, A., Reihle, C., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Trollmann, R., Weiler, M., Weiß, C., Wiegand, G., Wilichowski, E., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 23.10.2022, In: ORPHANET J RARE DIS. 17, 1, 384.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings

    Wiegand-Grefe, S., Liedtke, A., Morgenstern, L., Hoff, A., Csengoe-Norris, A., Johannsen, J., Denecke, J., Barkmann, C., Grolle, B., Daubmann, A., Wegscheider, K. & Boettcher, J., 14.10.2022, In: BMC PEDIATR. 22, 1, p. 596 596.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  16. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

    Holling, T., Lisfeld, J., Johannsen, J., Matschke, J., Song, F., Altmeppen, H. C. & Kutsche, K., 09.2022, In: HUM MUTAT. 43, 9, p. 1224-1233 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  17. Mucha-Habermann disease: a pediatric case report and proposal of a risk score

    Blohm, M. E., Ebenebe, C. U., Rau, C., Escherich, C., Johannsen, J., Escherich, G., Driemeyer, J., Nagel, P. D., Kobbe, R., Lütgehetmann, M., Lennartz, M., Booken, N., Schneider, S. W. & Singer, D., 04.2022, In: INT J DERMATOL. 61, 4, p. 401-409 9 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  18. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

    Weiß, C., Ziegler, A., Becker, L-L., Johannsen, J., Brennenstuhl, H., Schreiber, G., Flotats-Bastardas, M., Stoltenburg, C., Hartmann, H., Illsinger, S., Denecke, J., Pechmann, A., Müller-Felber, W., Vill, K., Blaschek, A., Smitka, M., van der Stam, L., Weiss, K., Winter, B., Goldhahn, K., Plecko, B., Horber, V., Bernert, G., Husain, R. A., Rauscher, C., Trollmann, R., Garbade, S. F., Hahn, A., von der Hagen, M. & Kaindl, A. M., 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 17-27 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  19. 2021
  20. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  21. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

    Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  22. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

    Saffari, A., Cannet, C., Blaschek, A., Hahn, A., Hoffmann, G. F., Johannsen, J., Kirsten, R., Kockaya, M., Kölker, S., Müller-Felber, W., Roos, A., Schäfer, H., Schara, U., Spraul, M., Trefz, F. K., Vill, K., Wick, W., Weiler, M., Okun, J. G. & Ziegler, A., 20.10.2021, In: ORPHANET J RARE DIS. 16, 1, 441.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  23. Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

    Johannsen, J., Weiss, D., Daubmann, A., Schmitz, L. & Denecke, J., 09.2021, In: J CELL MOL MED. 25, 17, p. 8419-8431 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  24. More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

    Kloth, K., Graul-Neumann, L., Hermann, K., Johannsen, J., Bierhals, T. & Kortüm, F., 07.2021, In: NEUROGENETICS. 22, 3, p. 221-224 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  25. Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

    Johannsen, J., Weiss, D., Schlenker, F., Groth, M. & Denecke, J., 06.2021, In: NEUROPEDIATRICS. 52, 3, p. 179-185 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  26. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

    Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., Brown, K. E., Bruel, A-L., Brunet, T., Carneiro, M., Cremer, K., Day, R., Denommé-Pichon, A-S., Dyment, D. A., Engels, H., Fisher, R., Goh, E. S., Hajianpour, M. J., Haertel, L. R. M., Hauer, N., Hempel, M., Herget, T., Johannsen, J., Kraus, C., Le Guyader, G., Lesca, G., Mau-Them, F. T., McDermott, J. H., McWalter, K., Meyer, P., Õunap, K., Popp, B., Reimand, T., Riedhammer, K. M., Russo, M., Sadleir, L. G., Saenz, M., Schiff, M., Schuler, E., Syrbe, S., Van der Ven, A. T., Verloes, A., Willems, M., Zweier, C., Steindl, K., Zweier, M. & Rauch, A., 03.2021, In: GENET MED. 23, 3, p. 543-554 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  27. A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

    Finkel, R. S., McDonald, C. M., Lee Sweeney, H., Finanger, E., Neil Knierbein, E., Wagner, K. R., Mathews, K. D., Marks, W., Statland, J., Nance, J., McMillan, H. J., McCullagh, G., Tian, C., Ryan, M. M., O'Rourke, D., Müller-Felber, W., Tulinius, M., Burnette, W. B., Nguyen, C-T., Vijayakumar, K., Johannsen, J., Phan, H. C., Eagle, M., MacDougall, J., Mancini, M., Donovan, J. M. & PolarisDMD Study Group, 2021, In: J NEUROMUSCULAR DIS. 8, 5, p. 769-784 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  28. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  29. 2020
  30. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration

    Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1062-1077 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  31. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

    Hecher, L., Johannsen, J., Bierhals, T., Buhk, J-H., Hempel, M. & Denecke, J., 12.2020, In: NEUROPEDIATRICS. 51, 6, p. 435-439 5 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  32. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  33. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

    Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Arboleda, V. A., Newbury-Ecob, R. & DDD Study, 11.2020, In: GENET MED. 22, 11, p. 1920

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  34. 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., 09.07.2020, In: HEALTH QUAL LIFE OUT. 18, 1, p. 219

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  35. Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

    Bartels, F., Krohn, S., Nikolaus, M., Johannsen, J., Wickström, R., Schimmel, M., Häusler, M., Berger, A., Breu, M., Blankenburg, M., Stoffels, J., Hendricks, O., Bernert, G., Kurlemann, G., Knierim, E., Kaindl, A., Rostásy, K. & Finke, C., 07.2020, In: ANN NEUROL. 88, 1, p. 148-159 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  36. 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

    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, M. C., Husain, R. A., Pechmann, A., Köhler, C., Horber, V., Schwartz, O. & Kirschner, J., 06.2020, In: NERVENARZT. 91, 6, p. 518-529 12 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  37. Nine newly identified individuals refine the phenotype associated with MYT1L mutations

    Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T. M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M. & Engels, H., 05.2020, In: AM J MED GENET A. 182, 5, p. 1021-1031 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  38. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

    Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E. & Kutsche, K., 03.2020, In: PLOS GENET. 16, 3, p. e1008625

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  39. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

    Chelban, V., Alsagob, M., Kloth, K., Chirita-Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al-Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H. & Kaya, N., 02.2020, In: EUR J NEUROL. 27, 2, p. 334-342 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  40. 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., 2020, In: J NEUROMUSCULAR DIS. 7, 1, p. 41-46 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  41. 2019
  42. 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., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  43. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  44. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  45. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

    Kloth, K., Bierhals, T., Johannsen, J., Harms, F. L., Juusola, J., Johnson, M. C., Grange, D. K. & Kutsche, K., 06.2019, In: HUM GENET. 138, 6, p. 625-634 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  46. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

    Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., DDD Study, Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V. A. & Newbury-Ecob, R., 04.2019, In: GENET MED. 21, 4, p. 850-860 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  47. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  48. 2018
  49. 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, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. 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., 2018, In: J NEUROMUSCULAR DIS. 5, 2, p. 135-143 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  51. Sehstörung und Parästhesien mit seltener Ursache

    Guder, P., Johannsen, J., Weiss, D., Lischka, T. & Denecke, J., 2018, In: MONATSSCHR KINDERH.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  52. 2017
  53. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    Martin, S., Chamberlin, A., Shinde, D. N., Hempel, M., Strom, T. M., Schreiber, A., Johannsen, J., Ousager, L. B., Larsen, M. J., Hansen, L. K., Fatemi, A., Cohen, J. S., Lemke, J., Sørensen, K. P., Helbig, K. L., Lessel, D. & Abou Jamra, R., 07.12.2017, In: AM J HUM GENET. 101, 6, p. 1013-1020 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  54. 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, T. B. & Denecke, J., 10.2017, In: PEDIATR NEONATOL. 58, 5, p. 458-459

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  55. 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, T. M., Kubisch, C. & Lessel, D., 09.2017, In: EUR J MED GENET. 60, 9, p. 494-498

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  56. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  57. Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern

    Morgenstern, L., Wagner, M., Denecke, J., Grolle, B., Johannsen, J., Wegscheider, K. & Wiegand-Grefe, S., 2017, In: PRAX KINDERPSYCHOL K. 66, 9, p. 687 -701

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

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