Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

por Boettcher, Johannes, Denecke, Jonas, Barkmann, Claus, Wiegand-Grefe, Silke
Publicado en Int J Environ Res Public Health (2020)

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 perspe...

por Johannsen, Jessika, Fuhrmann, Lena, Grolle, Benjamin, Morgenstern, Lydia, Wiegand-Grefe, Silke, Denecke, Jonas
Publicado en Health Qual Life Outcomes (2020)

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

por Johannsen, Jessika, Bierhals, Tatjana, Deindl, Philipp, Hecher, Laura, Hermann, Katharina, Hempel, Maja, Kloth, Katja, Denecke, Jonas
Publicado en J Pediatr Genet (2019)

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

por Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin
Publicado en Am J Hum Genet (2018)

Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I

por Kranz, Christian, Denecke, Jonas, Lehle, Ludwig, Sohlbach, Kristina, Jeske, Stefanie, Meinhardt, Friedhelm, Rossi, Rainer, Gudowius, Sonja, Marquardt, Thorsten
Publicado 2004

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

por Bley, Annette, Denecke, Jonas, Kohlschütter, Alfried, Schön, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.
Publicado en Orphanet J Rare Dis (2021)

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

por Schwering, Christoph, Kammler, Gertrud, Wibbeler, Eva, Christner, Martin, Knobloch, Johannes K.-M., Nickel, Miriam, Denecke, Jonas, Baehr, Michael, Schulz, Angela
Publicado en J Child Neurol (2021)

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

por Said, Edith, Chong, Jessica X., Hempel, Maja, Denecke, Jonas, Soler, Paul, Strom, Tim, Nickerson, Deborah A., Kubisch, Christian, Bamshad, Michael, Lessel, Davor
Publicado en Am J Med Genet A (2017)

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

por Ammer, Luise Sophie, Pohl, Sandra, Breyer, Sandra Rafaela, Aries, Charlotte, Denecke, Jonas, Perez, Anna, Petzoldt, Martin, Schrum, Johanna, Müller, Ingo, Muschol, Nicole Maria
Publicado en Mol Genet Metab Rep (2021)

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

por Kranz, Christian, Jungeblut, Christoph, Denecke, Jonas, Erlekotte, Anne, Sohlbach, Christina, Debus, Volker, Kehl, Hans Gerd, Harms, Erik, Reith, Anna, Reichel, Sonja, Gröbe, Helfried, Hammersen, Gerhard, Schwarzer, Ulrich, Marquardt, Thorsten
Publicado 2007

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

por Kranz, Christian, Denecke, Jonas, Lehrman, Mark A., Ray, Sutapa, Kienz, Petra, Kreissel, Gunilla, Sagi, Dijana, Peter-Katalinic, Jasna, Freeze, Hudson H., Schmid, Thomas, Jackowski-Dohrmann, Sabine, Harms, Erik, Marquardt, Thorsten
Publicado 2001

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

por Pechmann, Astrid, Langer, Thorsten, Schorling, David, Stein, Sabine, Vogt, Sibylle, Schara, Ulrike, Kölbel, Heike, Schwartz, Oliver, Hahn, Andreas, Giese, Kerstin, Johannsen, Jessika, Denecke, Jonas, Weiß, Claudia, Theophil, Manuela, Kirschner, Janbernd
Publicado en J Neuromuscul Dis (2018)

Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded,...

por Boettcher, Johannes, Filter, Bonnie, Denecke, Jonas, Hot, Amra, Daubmann, Anne, Zapf, Antonia, Wegscheider, Karl, Zeidler, Jan, von der Schulenburg, J.-Matthias Graf, Bullinger, Monika, Rassenhofer, Miriam, Schulte-Markwort, Michael, Wiegand-Grefe, Silke
Publicado en BMC Fam Pract (2020)

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

por Knapp, Karen M., Jenkins, Danielle E., Sullivan, Rosie, Harms, Frederike L., von Elsner, Leonie, Ockeloen, Charlotte W., de Munnik, Sonja, Bongers, Ernie M. H. F., Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S.
Publicado en Eur J Hum Genet (2021)

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

por A. Mahler, Elisa, Johannsen, Jessika, Tsiakas, Konstantinos, Kloth, Katja, Lüttgen, Sabine, Mühlhausen, Chris, Alhaddad, Bader, B. Haack, Tobias, M. Strom, Tim, Kortüm, Fanny, Meitinger, Thomas, C. Muntau, Ania, Santer, René, Kubisch, Christian, Lessel, Davor, Denecke*, Jonas, Hempel*, Maja
Publicado en Dtsch Arztebl Int (2019)

Phenotypic and molecular insights into CASK-related disorders in males

por Moog, Ute, Bierhals, Tatjana, Brand, Kristina, Bautsch, Jan, Biskup, Saskia, Brune, Thomas, Denecke, Jonas, de Die-Smulders, Christine E, Evers, Christina, Hempel, Maja, Henneke, Marco, Yntema, Helger, Menten, Björn, Pietz, Joachim, Pfundt, Rolph, Schmidtke, Jörg, Steinemann, Doris, Stumpel, Constance T, Van Maldergem, Lionel, Kutsche, Kerstin
Publicado en Orphanet J Rare Dis (2015)

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease

por Stumpf, Sina K., Berghoff, Stefan A., Trevisiol, Andrea, Spieth, Lena, Düking, Tim, Schneider, Lennart V., Schlaphoff, Lennart, Dreha-Kulaczewski, Steffi, Bley, Annette, Burfeind, Dinah, Kusch, Kathrin, Mitkovski, Miso, Ruhwedel, Torben, Guder, Philipp, Röhse, Heiko, Denecke, Jonas, Gärtner, Jutta, Möbius, Wiebke, Nave, Klaus-Armin, Saher, Gesine
Publicado en Acta Neuropathol (2019)

Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease

por Stumpf, Sina K., Berghoff, Stefan A., Trevisiol, Andrea, Spieth, Lena, Düking, Tim, Schneider, Lennart V., Schlaphoff, Lennart, Dreha-Kulaczewski, Steffi, Bley, Annette, Burfeind, Dinah, Kusch, Kathrin, Mitkovski, Miso, Ruhwedel, Torben, Guder, Philipp, Röhse, Heiko, Denecke, Jonas, Gärtner, Jutta, Möbius, Wiebke, Nave, Klaus-Armin, Saher, Gesine
Publicado en Acta Neuropathol (2019)

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(−)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration

por Polovitskaya, Maya M., Barbini, Carlo, Martinelli, Diego, Harms, Frederike L., Cole, F. Sessions, Calligari, Paolo, Bocchinfuso, Gianfranco, Stella, Lorenzo, Ciolfi, Andrea, Niceta, Marcello, Rizza, Teresa, Shinawi, Marwan, Sisco, Kathleen, Johannsen, Jessika, Denecke, Jonas, Carrozzo, Rosalba, Wegner, Daniel J., Kutsche, Kerstin, Tartaglia, Marco, Jentsch, Thomas J.
Publicado en Am J Hum Genet (2020)

A Novel Type of Macrothrombocytopenia Associated with a Defect in α2,3-Sialylation

por Jones, Claire, Denecke, Jonas, Sträter, Ronald, Stölting, Torsten, Schunicht, Yvonne, Zeuschner, Dagmar, Klumperman, Judith, Lefeber, Dirk J., Spelten, Oliver, Zarbock, Alexander, Kelm, Sørge, Strenge, Karen, Haslam, Stuart M., Lühn, Kerstin, Stahl, Dorothea, Gentile, Luca, Schreiter, Thomas, Hilgard, Philip, Beck-Sickinger, Annette G., Marquardt, Thorsten, Wild, Martin K.
Publicado 2011