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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 perspective?
Author / Creator:Johannsen, Jessika ; Fuhrmann, Lena ; Grolle, Benjamin ; Morgenstern, Lydia ; Wiegand-Grefe, Silke ; Denecke, Jonas
Publisher:London: BioMed Central Ltd
Journal title:Health and quality of life outcomes, 2020-07, Vol.18 (1), p.1-219, Article 219
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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Author / Creator:Andersen, Peter M ; Nordström, Ulrika ; Tsiakas, Konstantinos ; Johannsen, Jessika ; Volk, Alexander E ; Bierhals, Tatjana ; Zetterström, Per ; Marklund, Stefan L ; Hempel, Maja ; Santer, René
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2019-08, Vol.381 (5), p.486-488
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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
Author / Creator:Coste de Bagneaux, Pierre ; von Elsner, Leonie ; Bierhals, Tatjana ; Campiglio, Marta ; Johannsen, Jessika ; Obermair, Gerald J. ; Hempel, Maja ; Flucher, Bernhard E. ; Kutsche, Kerstin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-03, Vol.16 (3), p.e1008625-e1008625
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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Author / Creator:Trollmann, Regina ; Johannsen, Jessika ; Vill, Katharina ; Köhler, Cornelia ; Hahn, Andreas ; Illsinger, Sabine ; Pechmann, Astrid ; Hagen, Maja von der ; Müller-Felber, Wolfgang
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.353-9, Article 353
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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 study
Author / Creator:Brandt, Maja ; Driemeyer, Joenna ; Johannsen, Jessika ; Denecke, Jonas ; Inhestern, Laura ; Bergelt, Corinna
Publisher:England: BioMed Central Ltd
Journal title:BMC Psychology, 2024-10, Vol.12 (1), p.566-15, Article 566
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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 and their siblings
Author / Creator: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
Publisher:London: BioMed Central Ltd
Journal title:BMC pediatrics, 2022-10, Vol.22 (1), p.1-596, Article 596
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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Author / Creator:Saffari, Afshin ; Cannet, Claire ; Blaschek, Astrid ; Hahn, Andreas ; Hoffmann, Georg F. ; Johannsen, Jessika ; Kirsten, Romy ; Kockaya, Musa ; Kölker, Stefan ; Müller-Felber, Wolfgang ; Roos, Andreas ; Schäfer, Hartmut ; Schara, Ulrike ; Spraul, Manfred ; Trefz, Friedrich K. ; Vill, Katharina ; Wick, Wolfgang ; Weiler, Markus ; Okun, Jürgen G. ; Ziegler, Andreas
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-441, Article 441
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Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
Author / Creator:Johannsen, Jessika ; Weiss, Deike ; Daubmann, Anne ; Schmitz, Leonie ; Denecke, Jonas
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2021-09, Vol.25 (17), p.8419-8431
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Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
Author / Creator:Inhestern, Laura ; Brandt, Maja ; Driemeyer, Joenna ; Denecke, Jonas ; Johannsen, Jessika ; Bergelt, Corinna
Publisher:Switzerland: MDPI AG
Journal title:International journal of environmental research and public health, 2023-03, Vol.20 (7), p.5360
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Germline AGO2 mutations impair RNA interference and human neurological development
Author / Creator:Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F. ; Kazantsev, Andriy ; Hassani Nia, Fatemeh ; Bartholomäus, Alexander ; Martens, Victoria ; Bruckmann, Astrid ; Graus, Veronika ; McConkie-Rosell, Allyn ; McDonald, Marie ; Lozic, Bernarda ; Tan, Ee-Shien ; Gerkes, Erica ; Johannsen, Jessika ; Denecke, Jonas ; Telegrafi, Aida ; Zonneveld-Huijssoon, Evelien ; Lemmink, Henny H. ; Cham, Breana W. M. ; Kovacevic, Tanja ; Ramsdell, Linda ; Foss, Kimberly ; Le Duc, Diana ; Mitter, Diana ; Syrbe, Steffen ; Merkenschlager, Andreas ; Sinnema, Margje ; Panis, Bianca ; Lazier, Joanna ; Osmond, Matthew ; Hartley, Taila ; Mortreux, Jeremie ; Busa, Tiffany ; Missirian, Chantal ; Prasun, Pankaj ; Lüttgen, Sabine ; Mannucci, Ilaria ; Lessel, Ivana ; Schob, Claudia ; Kindler, Stefan ; Pappas, John ; Rabin, Rachel ; Willemsen, Marjolein ; Gardeitchik, Thatjana ; Löhner, Katharina ; Rump, Patrick ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Andrews, Peter Ian ; Roscioli, Tony ; Brunner, Han G. ; Chijiwa, Chieko ; Lewis, M. E. Suzanne ; Jamra, Rami Abou ; Dyment, David A. ; Boycott, Kym M. ; Stegmann, Alexander P. A. ; Kubisch, Christian ; Tan, Ene-Choo ; Mirzaa, Ghayda M. ; McWalter, Kirsty ; Kleefstra, Tjitske ; Pfundt, Rolph ; Ignatova, Zoya ; Meister, Gunter ; Kreienkamp, Hans-Jürgen
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-11, Vol.11 (1), p.5797-14, Article 5797
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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Author / Creator:Kennedy, Joanna ; Goudie, David ; Blair, Edward ; Chandler, Kate ; Joss, Shelagh ; McKay, Victoria ; Green, Andrew ; Armstrong, Ruth ; Lees, Melissa ; Kamien, Benjamin ; Hopper, Bruce ; Tan, Tiong Yang ; Yap, Patrick ; Stark, Zornitza ; Okamoto, Nobuhiko ; Miyake, Noriko ; Matsumoto, Naomichi ; Macnamara, Ellen ; Murphy, Jennifer L. ; McCormick, Elizabeth ; Hakonarson, Hakon ; Falk, Marni J. ; Li, Dong ; Blackburn, Patrick ; Klee, Eric ; Babovic-Vuksanovic, Dusica ; Schelley, Susan ; Hudgins, Louanne ; Kant, Sarina ; Isidor, Bertrand ; Cogne, Benjamin ; Bradbury, Kimberley ; Williams, Mark ; Patel, Chirag ; Heussler, Helen ; Duff-Farrier, Celia ; Lakeman, Phillis ; Scurr, Ingrid ; Kini, Usha ; Elting, Mariet ; Reijnders, Margot ; Schuurs-Hoeijmakers, Janneke ; Wafik, Mohamed ; Blomhoff, Anne ; Ruivenkamp, Claudia A. L. ; Nibbeling, Esther ; Dingemans, Alexander J. M. ; Douine, Emilie D. ; Nelson, Stanley F. ; Hempel, Maja ; Bierhals, Tatjana ; Lessel, Davor ; Johannsen, Jessika ; Arboleda, Valerie A. ; Newbury-Ecob, Ruth
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.850-860
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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Author / Creator:Kloth, Katja ; Bierhals, Tatjana ; Johannsen, Jessika ; Harms, Frederike L. ; Juusola, Jane ; Johnson, Mark C. ; Grange, Dorothy K. ; Kutsche, Kerstin
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2019-06, Vol.138 (6), p.625-634
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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids
Author / Creator:Saffari, Afshin ; Niesert, Moritz ; Cannet, Claire ; Blaschek, Astrid ; Hahn, Andreas ; Johannsen, Jessika ; Kockaya, Musa ; Kölbel, Heike ; Hoffmann, Georg F. ; Claus, Peter ; Kölker, Stefan ; Müller-Felber, Wolfgang ; Roos, Andreas ; Schara-Schmidt, Ulrike ; Trefz, Friedrich K. ; Vill, Katharina ; Wick, Wolfgang ; Weiler, Markus ; Okun, Jürgen G. ; Ziegler, Andreas
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22), p.12123
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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using [sup.1]H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofl...
Author / Creator:Saffari, Afshin ; Niesert, Moritz ; Cannet, Claire ; Blaschek, Astrid ; Hahn, Andreas ; Johannsen, Jessika ; Kockaya, Musa ; Kölbel, Heike ; Hoffmann, Georg F ; Claus, Peter ; Kölker, Stefan ; Müller-Felber, Wolfgang ; Roos, Andreas ; Schara-Schmidt, Ulrike ; Trefz, Friedrich K ; Vill, Katharina ; Wick, Wolfgang ; Weiler, Markus ; Okun, Jürgen G ; Ziegler, Andreas
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22)
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Author / Creator:Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber ; Vitobello, Antonio ; Faivre, Laurence ; Banka, Siddharth ; Alhaddad, Bader ; Asadollahi, Reza ; Becker, Jessica ; Bierhals, Tatjana ; Brown, Kathleen E. ; Bruel, Ange-Line ; Brunet, Theresa ; Carneiro, Maryline ; Cremer, Kirsten ; Day, Robert ; Denommé-Pichon, Anne-Sophie ; Dyment, Dave A. ; Engels, Hartmut ; Fisher, Rachel ; Goh, Elaine S. ; Hajianpour, M. J. ; Haertel, Lucia Ribeiro Machado ; Hauer, Nadine ; Hempel, Maja ; Herget, Theresia ; Johannsen, Jessika ; Kraus, Cornelia ; Le Guyader, Gwenaël ; Lesca, Gaetan ; Mau-Them, Frédéric Tran ; McDermott, John Henry ; McWalter, Kirsty ; Meyer, Pierre ; Õunap, Katrin ; Popp, Bernt ; Reimand, Tiia ; Riedhammer, Korbinian M. ; Russo, Martina ; Sadleir, Lynette G. ; Saenz, Margarita ; Schiff, Manuel ; Schuler, Elisabeth ; Syrbe, Steffen ; Van der Ven, Amelie Theresa ; Verloes, Alain ; Willems, Marjolaine ; Zweier, Christiane ; Steindl, Katharina ; Zweier, Markus ; Rauch, Anita
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.543-554
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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Author / Creator:Scholz, Tasja ; Blohm, Martin Ernst ; Kortüm, Fanny ; Bierhals, Tatjana ; Lessel, Davor ; van der Ven, Amelie T. ; Lisfeld, Jasmin ; Herget, Theresia ; Kloth, Katja ; Singer, Dominique ; Perez, Anna ; Obi, Nadia ; Johannsen, Jessika ; Denecke, Jonas ; Santer, René ; Kubisch, Christian ; Deindl, Philipp ; Hempel, Maja
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neonatology (Basel, Switzerland), 2021-08, Vol.118 (4), p.454-461
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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
Author / Creator:Johannsen, Jessika ; Kortüm, Fanny ; Rosenberger, Georg ; Bokelmann, Kristin ; Schirmer, Markus A. ; Denecke, Jonas ; Santer, René
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2018-08, Vol.19 (3), p.151-156
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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1 H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids
Author / Creator:Saffari, Afshin ; Niesert, Moritz ; Cannet, Claire ; Blaschek, Astrid ; Hahn, Andreas ; Johannsen, Jessika ; Kockaya, Musa ; Kölbel, Heike ; Hoffmann, Georg F ; Claus, Peter ; Kölker, Stefan ; Müller-Felber, Wolfgang ; Roos, Andreas ; Schara-Schmidt, Ulrike ; Trefz, Friedrich K ; Vill, Katharina ; Wick, Wolfgang ; Weiler, Markus ; Okun, Jürgen G ; Ziegler, Andreas
Publisher:Switzerland
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22)
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Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing
Author / Creator:Johannsen, Jessika ; RÃ¶der, Brigitte
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in human neuroscience, 2014-07, Vol.8, p.552-552
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Author / Creator:Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber ; Vitobello, Antonio ; Faivre, Laurence ; Banka, Siddharth ; Alhaddad, Bader ; Asadollahi, Reza ; Becker, Jessica ; Bierhals, Tatjana ; Brown, Kathleen ; Bruel, Ange-Line ; Brunet, Theresa ; Carneiro, Maryline ; Cremer, Kirsten ; Day, Robert ; Denommé-Pichon, Anne-Sophie ; Dyment, Dave ; Engels, Hartmut ; Fisher, Rachel ; Goh, Elaine ; Hajianpour, M.J. ; Haertel, Lucia Ribeiro Machado ; Hauer, Nadine ; Hempel, Maja ; Herget, Theresia ; Johannsen, Jessika ; Kraus, Cornelia ; Le Guyader, Gwenaël ; Lesca, Gaetan ; Mau-Them, Frédéric Tran ; Mcdermott, John Henry ; Mcwalter, Kirsty ; Meyer, Pierre ; Õunap, Katrin ; Popp, Bernt ; Reimand, Tiia ; Riedhammer, Korbinian ; Russo, Martina ; Sadleir, Lynette ; Saenz, Margarita ; Schiff, Manuel ; Schuler, Elisabeth ; Syrbe, Steffen ; van der Ven, Amelie Theresa ; Verloes, Alain ; Willems, Marjolaine ; Zweier, Christiane ; Steindl, Katharina ; Zweier, Markus ; Rauch, Anita
Publisher:Nature Publishing Group
Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.543-554
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Showing 1 to 20 of 26 results

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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 perspective?

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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

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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

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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

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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 study

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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 and their siblings

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

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

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

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Germline AGO2 mutations impair RNA interference and human neurological development

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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids

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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using [sup.1]H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofl...

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

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

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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

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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1 H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids

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Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing

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

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