Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care
Schorling, David C., Pechmann, Astrid, Kirschner, Janbernd
Published in Journal of Neuromuscular Diseases (01.01.2020)
Published in Journal of Neuromuscular Diseases (01.01.2020)
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Book Review
Journal Article
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
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
Published in Neuromuscular disorders : NMD (01.11.2019)
Published in Neuromuscular disorders : NMD (01.11.2019)
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Journal Article
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
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
Published in Neuromuscular disorders : NMD (01.02.2018)
Published in Neuromuscular disorders : NMD (01.02.2018)
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Journal Article
Duchenne muscular dystrophy and caregiver burden: a systematic review
Landfeldt, Erik, Edström, Josefin, Buccella, Filippo, Kirschner, Janbernd, Lochmüller, Hanns
Published in Developmental medicine and child neurology (01.10.2018)
Published in Developmental medicine and child neurology (01.10.2018)
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Journal Article
Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study
Kiefer, Petra, Kirschner, Janbernd, Pechmann, Astrid, Langer, Thorsten
Published in Orphanet journal of rare diseases (29.07.2020)
Published in Orphanet journal of rare diseases (29.07.2020)
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Journal Article
A multi-source approach to determine SMA incidence and research ready population
Verhaart, Ingrid E. C., Robertson, Agata, Leary, Rebecca, McMacken, Grace, König, Kirsten, Kirschner, Janbernd, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns
Published in Journal of neurology (01.07.2017)
Published in Journal of neurology (01.07.2017)
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Journal Article
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
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
Published in Nature (London) (28.03.2013)
Published in Nature (London) (28.03.2013)
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Journal Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
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
Published in JAMA : the journal of the American Medical Association (02.07.2014)
Published in JAMA : the journal of the American Medical Association (02.07.2014)
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Journal Article
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
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
Published in Orphanet journal of rare diseases (21.01.2019)
Published in Orphanet journal of rare diseases (21.01.2019)
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Journal Article
JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment- naïve patients with spinal muscular atrophy (SMA)
Mariacristina, Scoto, Claudio, Bruno, Dirk, Fischer, Janbernd, Kirschner, Eugenio, Mercuri, Imogen, Carruthers, Marianne, Gerber, Heidemarie, Kletzl, Teresa, Gidaro, Francesco, Muntoni
Published in Journal of neurology, neurosurgery and psychiatry (28.11.2023)
Published in Journal of neurology, neurosurgery and psychiatry (28.11.2023)
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Journal Article
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study
Walter, Maggie C., Wenninger, Stephan, Thiele, Simone, Stauber, Julia, Hiebeler, Miriam, Greckl, Eva, Stahl, Kristina, Pechmann, Astrid, Lochmüller, Hanns, Kirschner, Janbernd, Schoser, Benedikt
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Journal Article
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
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
Published in Journal of allergy and clinical immunology (01.12.2009)
Published in Journal of allergy and clinical immunology (01.12.2009)
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Journal Article
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
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
Published in Lancet neurology (01.07.2017)
Published in Lancet neurology (01.07.2017)
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Journal Article
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study
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
Published in Muscle & nerve (01.08.2023)
Published in Muscle & nerve (01.08.2023)
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Journal Article
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
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
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
König, Kirsten, Pechmann, Astrid, Thiele, Simone, Walter, Maggie C, Schorling, David, Tassoni, Adrian, Lochmüller, Hanns, Müller-Reible, Clemens, Kirschner, Janbernd
Published in Orphanet journal of rare diseases (24.06.2019)
Published in Orphanet journal of rare diseases (24.06.2019)
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Journal Article
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study
Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara
Published in Cytoskeleton (Hoboken, N.J.) (01.01.2019)
Published in Cytoskeleton (Hoboken, N.J.) (01.01.2019)
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Journal Article
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
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
Published in European journal of human genetics : EJHG (01.03.2020)
Published in European journal of human genetics : EJHG (01.03.2020)
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