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2018
Finkel, Richard S., Mercuri, Eugenio 
ORCID: 0000-0002-9851-5365, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Qian, Ying and Sejersen, Thomas
(2018).
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Neuromusc. Disord., 28 (3).
S. 197 - 208.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Qian, Ying and Sejersen, Thomas
(2018).
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Neuromusc. Disord., 28 (2).
S. 103 - 116.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
2016
Gerin, Isabelle, Ury, Benoit, Breloy, Isabelle, Bouchet-Seraphin, Celine, Bolsee, Jennifer, Halbout, Mathias ORCID: 0000-0002-3011-0476, Graff, Julie, Vertommen, Didier ORCID: 0000-0001-7648-8282, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana ORCID: 0000-0002-2324-1208, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647 and Bommer, Guido T.
(2016).
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.
Nat. Commun., 7.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723