Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder von Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin

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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... von Johannsen, Jessika, Fuhrmann, Lena, Grolle, Benjamin, Morgenstern, Lydia, Wiegand-Grefe, Silke, Denecke, Jonas

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

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The natural history of Canavan disease: 23 new cases and comparison with patients from literature von Bley, Annette, Denecke, Jonas, Kohlschuetter, Alfried, Schoen, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.

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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II von 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

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

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Experiences and the psychosocial situation of parental caregivers of children with spinal muscular atrophy against the background of new treatment options: a qualitative interview... von Brandt, Maja, Driemeyer, Joenna, Johannsen, Jessika, Denecke, Jonas, Inhestern, Laura, Bergelt, Corinna

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Management strategies for CLN2 disease von 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

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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males von 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

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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 a... von 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

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants von 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

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Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now? von Denecke, Jonas, Marquardt, Thorsten

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Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization von WEBER, Stefanie, LANDWEHR, Christina, RENKERT, Miriam, HOISCHEN, Alexander, WÜHL, Elke, DENECKE, Jonas, RADLWIMMER, Bernhard, HAFFNER, Dieter, SCHAEFER, Franz, WEBER, Ruthild G

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

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Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II? von Ammer, Luise Sophie, Pohl, Sandra, Breyer, Sandra Rafaela, Aries, Charlotte, Denecke, Jonas, Perez, Anna, Petzoldt, Martin, Schrum, Johanna, Müller, Ingo, Muschol, Nicole Maria

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Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins von Johannsen, Jessika, Hempel, Maja, Diehl, Thilo, Haack, Tobias B., Denecke, Jonas

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Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen von Johannsen, Jessika, Weiss, Deike, Daubmann, Anne, Schmitz, Leonie, Denecke, Jonas

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Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation von Boettcher, Johannes, Denecke, Jonas, Barkmann, Claus, Wiegand-Grefe, Silke

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p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria von Kirschner, Janbernd, Brune, Thomas, Wehnert, Manfred, Denecke, Jonas, Wasner, Christina, Feuer, Anja, Marquardt, Thorsten, Ketelsen, Uwe-Peter, Wieacker, Peter, Bönnemann, Carsten G., Korinthenberg, Rudolf

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

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