Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Journal Article
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, Jessika, Fuhrmann, Lena, Grolle, Benjamin, Morgenstern, Lydia, Wiegand-Grefe, Silke, Denecke, Jonas
Published in Health and quality of life outcomes (09.07.2020)
Published in Health and quality of life outcomes (09.07.2020)
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Journal Article
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
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.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Journal Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Bley, Annette, Denecke, Jonas, Kohlschütter, Alfried, Schön, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S
Published in Orphanet journal of rare diseases (19.05.2021)
Published in Orphanet journal of rare diseases (19.05.2021)
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Journal Article
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
Rojewski, Markus T, Hopfner, Karl-Peter, Holzmann, Karlheinz, Schwarz, Klaus, Russo, Roberta, De Falco, Luigia, Iolascon, Achille, Verissimo, Fatima, Pepperkok, Rainer, Joggerst, Brigitte, Denecke, Jonas, Delaunay, Jean, Perrotta, Silverio, Trede, Nikolaus S, Chen, Wen, Paw, Barry H, Spano, Daniela, Pannicke, Ulrich, Horsley, Wyatt, Heimpel, Hermann, Esposito, Maria Rosaria, Heinrich, Katja
Published in Nature genetics (01.08.2009)
Published in Nature genetics (01.08.2009)
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Journal Article
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
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
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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Journal Article
Experiences and the psychosocial situation of parental caregivers of children with spinal muscular atrophy against the background of new treatment options: a qualitative interview study
Brandt, Maja, Driemeyer, Joenna, Johannsen, Jessika, Denecke, Jonas, Inhestern, Laura, Bergelt, Corinna
Published in BMC Psychology (17.10.2024)
Published in BMC Psychology (17.10.2024)
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Journal Article
Management strategies for CLN2 disease
Williams, Ruth E., DM, FRCPCH, Adams, Heather R., PhD, Blohm, Martin, MD, Cohen-Pfeffer, Jessica L., MD, de los Reyes, Emily, MD, Denecke, Jonas, MD, Drago, Kristen, RN, CHPPN, Fairhurst, Charlie, MBBS, FRCPCH, Frazier, Margie, PhD, Guelbert, Norberto, MD, PhD, Kiss, Szilárd, MD, Kofler, Annamaria, PT, Lawson, John A., BMed, FRACP, PhD, Lehwald, Lenora, MD, Leung, Mary-Anne, SRD, Mikhailova, Svetlana, MD, Mink, Jonathan W., MD, PhD, Nickel, Miriam, MD, Shediac, Renée, PhD, Sims, Katherine, MD, Specchio, Nicola, MD, PhD, Topcu, Meral, MD, von Löbbecke, Ina, PT, West, Andrea, MSc, Zernikow, Boris, MD, PhD, Schulz, Angela, MD, PhD
Published in Pediatric neurology (01.04.2017)
Published in Pediatric neurology (01.04.2017)
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Journal Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor
Published in Human genetics (01.02.2022)
Published in Human genetics (01.02.2022)
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Journal Article
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, Silke, Liedtke, Anna, Morgenstern, Lydia, Hoff, Antonia, Csengoe-Norris, Anikó, Johannsen, Jessika, Denecke, Jonas, Barkmann, Claus, Grolle, Benjamin, Daubmann, Anne, Wegscheider, Karl, Boettcher, Johannes
Published in BMC pediatrics (14.10.2022)
Published in BMC pediatrics (14.10.2022)
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Journal Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor
Published in Neurogenetics (01.10.2021)
Published in Neurogenetics (01.10.2021)
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Journal Article
Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization
WEBER, Stefanie, LANDWEHR, Christina, RENKERT, Miriam, HOISCHEN, Alexander, WÜHL, Elke, DENECKE, Jonas, RADLWIMMER, Bernhard, HAFFNER, Dieter, SCHAEFER, Franz, WEBER, Ruthild G
Published in Nephrology, dialysis, transplantation (01.01.2011)
Published in Nephrology, dialysis, transplantation (01.01.2011)
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High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
Johannsen, Jessika, Weiss, Deike, Driemeyer, Joenna, Olfe, Jakob, Stute, Fridrike, Müller, Ferdinand, Schütt, Marion, Trollmann, Regina, Kölbel, Heike, Schara-Schmidt, Ulrike, Kirschner, Janbernd, Pechmann, Astrid, Blaschek, Astrid, Horber, Veronka, Denecke, Jonas
Published in Frontiers in pediatrics (16.11.2023)
Published in Frontiers in pediatrics (16.11.2023)
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Journal Article
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer, Luise Sophie, Pohl, Sandra, Breyer, Sandra Rafaela, Aries, Charlotte, Denecke, Jonas, Perez, Anna, Petzoldt, Martin, Schrum, Johanna, Müller, Ingo, Muschol, Nicole Maria
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins
Johannsen, Jessika, Hempel, Maja, Diehl, Thilo, Haack, Tobias B, Denecke, Jonas
Published in Pediatrics and neonatology (01.10.2017)
Published in Pediatrics and neonatology (01.10.2017)
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Journal Article
p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria
Kirschner, Janbernd, Brune, Thomas, Wehnert, Manfred, Denecke, Jonas, Wasner, Christina, Feuer, Anja, Marquardt, Thorsten, Ketelsen, Uwe-Peter, Wieacker, Peter, Bönnemann, Carsten G., Korinthenberg, Rudolf
Published in Annals of neurology (01.01.2005)
Published in Annals of neurology (01.01.2005)
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A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)
Kranz, C, Denecke, J, Lehrman, M A, Ray, S, Kienz, P, Kreissel, G, Sagi, D, Peter-Katalinic, J, Freeze, H H, Schmid, T, Jackowski-Dohrmann, S, Harms, E, Marquardt, T
Published in The Journal of clinical investigation (01.12.2001)
Published in The Journal of clinical investigation (01.12.2001)
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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, randomized, controlled, multicenter trial in a 2x2 factorial design
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
Published in BMC family practice (20.11.2020)
Published in BMC family practice (20.11.2020)
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Journal Article
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
Johannsen, Jessika, Weiss, Deike, Daubmann, Anne, Schmitz, Leonie, Denecke, Jonas
Published in Journal of cellular and molecular medicine (01.09.2021)
Published in Journal of cellular and molecular medicine (01.09.2021)
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