Search Results - "KIRSCHNER, Janbernd"

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis by Landfeldt, Erik, Thompson, Rachel, Sejersen, Thomas, McMillan, Hugh J., Kirschner, Janbernd, Lochmüller, Hanns

“…Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is…”
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Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care by Schorling, David C, Pechmann, Astrid, Kirschner, Janbernd

“…Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. The…”
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care by Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Qian, Ying, Sejersen, Thomas, Muntoni, Francesco, Wirth, Brunhilde, Tiziano, Francesco Danilo, Kirschner, Janbernd, Tizzano, Eduardo, Topaloglu, Haluk, Swoboda, Kathy, Laing, Nigel, Kayoko, Saito, Prior, Thomas, Chung, Wendy K., Wu, Shou-Mei, Montes, Jacqueline, Mazzone, Elena, Main, Marion, Coleman, Caron, Gee, Richard, Glanzman, Allan, Kroksmark, Anna-Karin, Krosschell, Kristin, Nelson, Leslie, Rose, Kristy, Stępień, Agnieszka, Vuillerot, Carole, Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Dubousset, Jean, Farrington, David, Flynn, Jack, Halanski, Matthew, Hasler, Carol, Miladi, Lotfi, Reilly, Christopher, Roye, Benjamin, Sponseller, Paul, Yazici, Muharrem, Hurst, Rebecca, Bertini, Enrico, Tarrant, Stacey, Barja, Salesa, Bertoli, Simona, Crawford, Thomas, Foust, Kevin, Kyle, Barbara, Rodan, Lance, Roper, Helen, Seffrood, Erin, Swoboda, Kathryn, Szlagatys-Sidorkiewicz, Agnieszka

“…•We report an update on standards of care recommendations for spinal muscular atrophy.•The paper provides a review of the recent literature.•Expert opinion is…”
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Gene Therapy for Monogenic Inherited Disorders: Opportunities and Challenges by Kirschner, Janbernd, Cathomen, Toni

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Duchenne muscular dystrophy and caregiver burden: a systematic review by Landfeldt, Erik, Edström, Josefin, Buccella, Filippo, Kirschner, Janbernd, Lochmüller, Hanns

“…Aim To conduct a systematic literature review of caregiver burden in Duchenne muscular dystrophy (DMD). Method We searched Embase, Web of Science, and PubMed…”
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Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study by Kiefer, Petra, Kirschner, Janbernd, Pechmann, Astrid, Langer, Thorsten

“…Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval. Despite the possible…”
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A multi-source approach to determine SMA incidence and research ready population by Verhaart, Ingrid E. C., Robertson, Agata, Leary, Rebecca, McMacken, Grace, König, Kirsten, Kirschner, Janbernd, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns

“…In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene…”
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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS by Kim, Hong Joo, Kim, Nam Chul, Wang, Yong-Dong, Scarborough, Emily A., Moore, Jennifer, Diaz, Zamia, MacLea, Kyle S., Freibaum, Brian, Li, Songqing, Molliex, Amandine, Kanagaraj, Anderson P., Carter, Robert, Boylan, Kevin B., Wojtas, Aleksandra M., Rademakers, Rosa, Pinkus, Jack L., Greenberg, Steven A., Trojanowski, John Q., Traynor, Bryan J., Smith, Bradley N., Topp, Simon, Gkazi, Athina-Soragia, Miller, Jack, Shaw, Christopher E., Kottlors, Michael, Kirschner, Janbernd, Pestronk, Alan, Li, Yun R., Ford, Alice Flynn, Gitler, Aaron D., Benatar, Michael, King, Oliver D., Kimonis, Virginia E., Ross, Eric D., Weihl, Conrad C., Shorter, James, Taylor, J. Paul

“…Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with…”
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies by Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

“…IMPORTANCE: Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain…”
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SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy by Pechmann, Astrid, König, Kirsten, Bernert, Günther, Schachtrup, Kristina, Schara, Ulrike, Schorling, David, Schwersenz, Inge, Stein, Sabine, Tassoni, Adrian, Vogt, Sibylle, Walter, Maggie C, Lochmüller, Hanns, Kirschner, Janbernd

“…Survival and quality of life for patients affected by spinal muscular atrophy (SMA) are thought to have improved over the last decade due to changes in care…”
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JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment- naïve patients with spinal muscular atrophy (SMA) by Mariacristina, Scoto, Claudio, Bruno, Dirk, Fischer, Janbernd, Kirschner, Eugenio, Mercuri, Imogen, Carruthers, Marianne, Gerber, Heidemarie, Kletzl, Teresa, Gidaro, Francesco, Muntoni

“…Risdiplam (EVRYSDI®) is an oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved by the EMA and MHRA for the treatment of patients aged ≥2…”
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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study by Walter, Maggie C, Wenninger, Stephan, Thiele, Simone, Stauber, Julia, Hiebeler, Miriam, Greckl, Eva, Stahl, Kristina, Pechmann, Astrid, Lochmüller, Hanns, Kirschner, Janbernd, Schoser, Benedikt

“…Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in…”
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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia by McCarl, Christie-Ann, BS, Picard, Capucine, MD, PhD, Khalil, Sara, BS, Kawasaki, Takumi, PhD, Röther, Jens, Papolos, Alexander, BS, Kutok, Jeffery, MD, Hivroz, Claire, PhD, LeDeist, Francoise, MD, PhD, Plogmann, Katrin, DMD, Ehl, Stephan, MD, Notheis, Gundula, MD, Albert, Michael H., MD, Belohradsky, Bernd H., MD, Kirschner, Janbernd, MD, Rao, Anjana, PhD, Fischer, Alain, MD, Feske, Stefan, MD

“…Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation…”
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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial by Bertini, Enrico, Prof, Dessaud, Eric, PhD, Mercuri, Eugenio, Prof, Muntoni, Francesco, Prof, Kirschner, Janbernd, Prof, Reid, Carol, PhD, Lusakowska, Anna, MD, Comi, Giacomo P, Prof, Cuisset, Jean-Marie, MD, Abitbol, Jean-Louis, MD, Scherrer, Bruno, PhD, Ducray, Patricia Sanwald, PhD, Buchbjerg, Jeppe, MSc, Vianna, Eduardo, PhD, van der Pol, W Ludo, MD, Vuillerot, Carole, MD, Blaettler, Thomas, MD, Fontoura, Paulo, MD

“…Summary Background Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which…”
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Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study by Crawford, Thomas O., Swoboda, Kathryn J., De Vivo, Darryl C., Bertini, Enrico, Hwu, Wuh‐Liang, Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Nazario, Aledie Navas, Parsons, Julie A., Pechmann, Astrid, Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben‐Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh‐Jyh, Shu, Francy, Zhu, Cong, Raynaud, Stephanie, Lago, Tiffany R., Paradis, Angela D., Foster, Richard, Chin, Russell, Berger, Zdenek

“…Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three SMN2 copies, n = 10) who initiated…”
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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome by Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger

“…Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of…”
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De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany by König, Kirsten, Pechmann, Astrid, Thiele, Simone, Walter, Maggie C, Schorling, David, Tassoni, Adrian, Lochmüller, Hanns, Müller-Reible, Clemens, Kirschner, Janbernd

“…Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care…”
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Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study by Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara

“…Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with episodic, recurrent, and painful neuropathies affecting the nerves of…”
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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A, Deshpande, Charu, Taylor, Robert W, Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns

“…Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired…”
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