Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, Lochmüller, Hanns
Published in Journal of neurology (2014)
Published in Journal of neurology (2014)
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Mutations in dynamin 2 cause dominant centronuclear myopathy
Laporte, Jocelyn, Bitoun, Marc, Guicheney, Pascale, Ferrer, Xavier, Lacène, Emmanuelle, Lochmüller, Hanns, Fardeau, Michel, Maugenre, Svetlana, Jeannet, Pierre-Yves, Martin, Jean-Jacques, Laforêt, Pascal, Romero, Norma B, Eymard, Bruno, Beggs, Alan H
Published in Nature genetics (01.11.2005)
Published in Nature genetics (01.11.2005)
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Clinical and histologic findings in autosomal centronuclear myopathy
Jeannet, P-Y, Bassez, G, Eymard, B, Laforêt, P, Urtizberea, J A, Rouche, A, Guicheney, P, Fardeau, M, Romero, N B
Published in Neurology (11.05.2004)
Published in Neurology (11.05.2004)
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The role of posterior fossa decompression in acute cerebellitis
de Ribaupierre, S, Meagher-Villemure, K, Villemure, J G, Cotting, J, Jeannet, P Y, Porchet, F, Roulet, E, Bloch, J
Published in Child's nervous system (01.11.2005)
Published in Child's nervous system (01.11.2005)
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Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke
Bigi, S, Fischer, U, Wehrli, E, Mattle, HP, Boltshauser, E, Bürki, S, Jeannet, PY, Fluss, J, Nedeltchev, K, El-Koussy, M, Steinlin, M, Arnold, M
Published in Neuropediatrics (26.08.2010)
Published in Neuropediatrics (26.08.2010)
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Conference Proceeding
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
Lobrinus, J.A., Schorderet, D.F., Payot, M., Jeanrenaud, X., Bottani, A., Superti-Furga, A., Schlaepfer, J., Fromer, M., Jeannet, P.-Y.
Published in Neuromuscular disorders : NMD (01.04.2005)
Published in Neuromuscular disorders : NMD (01.04.2005)
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Transient dystonic toe-walking: differentiation from cerebral palsy and a rare explanation for some unexplained cases of idiopathic toe-walking
Newman, Christopher J, Ziegler, Anne-Lise, Jeannet, Pierre-Yves, Roulet-Perez, Eliane, Deonna, Thierry W
Published in Developmental medicine and child neurology (01.02.2006)
Published in Developmental medicine and child neurology (01.02.2006)
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Neuroimaging in childhood arterial ischaemic stroke: evaluation of aetiologies and imaging modalities
Buerki, S, Roellin, K, Remonda, L, Gubser-Mercati, D, Jeannet, PY, Keller, E, Lütschg, J, Menache, C, Ramelli, GP, Schmitt-Mechelke, T, Weissert, M, Boltshauser, E, Steinlin, M
Published in Neuropediatrics (18.06.2008)
Published in Neuropediatrics (18.06.2008)
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Conference Proceeding
Local variability in respiratory syncytial virus disease severity
Brandenburg, Afke H, Jeannet, Pierre-Yves, Steensel-Moll, Henriette A v, Ott, Alewijn, Rothbarth, Philip H, Wunderli, Werner, Suter, Susanne, Neijens, Herman J, Osterhaus, Albert D M E, Siegrist, Claire-Anne
Published in Archives of disease in childhood (01.11.1997)
Published in Archives of disease in childhood (01.11.1997)
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