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The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 04/2014, Volume 9, Issue 1, pp. 52 - 52
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2018, Volume 378, Issue 7, pp. 625 - 635
Journal Article
by McDonald, Craig M and Campbell, Craig and Torricelli, Ricardo Erazo and Finkel, Richard S and Flanigan, Kevin M and Goemans, Nathalie and Heydemann, Peter and Kaminska, Anna and Kirschner, Janbernd and Muntoni, Francesco and Osorio, Andrés Nascimento and Schara, Ulrike and Sejersen, Thomas and Shieh, Perry B and Sweeney, H Lee and Topaloglu, Haluk and Tulinius, Már and Vilchez, Juan J and Voit, Thomas and Wong, Brenda and Elfring, Gary and Kroger, Hans and Luo, Xiaohui and McIntosh, Joseph and Ong, Tuyen and Riebling, Peter and Souza, Marcio and Spiegel, Robert J and Peltz, Stuart W and Mercuri, Eugenio and Alfano, Lindsay N and Eagle, Michelle and James, Meredith K and Lowes, Linda and Mayhew, Anna and Mazzone, Elena S and Nelson, Leslie and Rose, Kristy J and Abdel-Hamid, Hoda Z and Apkon, Susan D and Barohn, Richard J and Bertini, Enrico and Bloetzer, Clemens and de Vaud, Lausanne Canton and Butterfield, Russell J and Chabrol, Brigitte and Chae, Jong-Hee and Jongno-gu, Daehak-ro and Comi, Giacomi Pietro and Darras, Basil T and Dastgir, Jahannaz and Desguerre, Isabelle and Escobar, Raul G and Finanger, Erika and Guglieri, Michela and Hughes, Imelda and Iannaccone, Susan T and Jones, Kristi J and Karachunski, Peter and Kudr, Martin and Lotze, Timothy and Mah, Jean K and Mathews, Katherine and Nevo, Yoram and Parsons, Julie and Péréon, Yann and de Queiroz Campos Araujo, Alexandra Prufer and Renfroe, J Ben and de Resende, Maria Bernadete Dutra and Ryan, Monique and Selby, Kathryn and Tennekoon, Gihan and Vita, Giuseppe and Clinical Evaluator Training Grp and ACT DMD Study Grp and Clinical Evaluator Training Group and ACT DMD Study Group
The Lancet, ISSN 0140-6736, 09/2017, Volume 390, Issue 10101, pp. 1489 - 1498
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2016, Volume 11, Issue 9, pp. e0161955 - e0161955
Journal Article
Journal of Neurology, ISSN 0340-5354, 2019, Volume 266, Issue 9, pp. 2129 - 2136
Recently, the anti-sense oligonucleotide drug nusinersen was approved for spinal muscular atrophy (SMA) and our aim was to find a response marker for this... 
Biomarkers | Tau | Neurofilament | Cerebrospinal fluid | SMA | CEREBROSPINAL-FLUID | CLINICAL NEUROLOGY | SHAM CONTROL | FIBRILLARY ACIDIC PROTEIN | DISEASE | CSF | NEUROFILAMENT LIGHT-CHAIN | BLOOD | Infectious diseases | Tau protein | SMN protein | Glial fibrillary acidic protein | Antisense | Children | Neuronal-glial interactions | Spinal muscular atrophy | Index Medicus
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2015, Volume 3, Issue 1, pp. 59 - 68
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2018, Volume 55, Issue 1, pp. 21 - 27
Journal Article
Mitochondrion, ISSN 1567-7249, 07/2019, Volume 47, pp. 76 - 81
Journal Article
Mitochondrion, ISSN 1567-7249, 07/2019, Volume 47, pp. 76 - 81
Prenatal onset of mitochondrial disease has been described in two cases with recessive mutations in the sideroflexin 4 gene ( ). We present a third case with... 
Prenatal | Intrauterine growth retardation | Complex I deficiency | SFXN4 | Mitochondrial disease
Journal Article
Acta Paediatrica, ISSN 0803-5253, 08/2012, Volume 101, Issue 8, pp. 877 - 887
Journal Article