Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Adele DʼAmico"'
Autor:
Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone
Publikováno v:
Paediatrics Publications
Muscle Nerve
Muscle Nerve
INTRODUCTION/AIMS: We aim to describe 12-month functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the Six Minute Walk Test (6MWT), 10 Meter Run, 4 Stair C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6
https://ir.lib.uwo.ca/paedpub/1436
https://ir.lib.uwo.ca/paedpub/1436
Autor:
Stefano C. Previtali, Federica Ricci, Marika Pane, Angela Berardinelli, Valeria A. Sansone, Tiziana Mongini, Claudia Brogna, Gianluca Vita, Marina Pedemonte, Eugenio Mercuri, Luisa Politano, Francesca Magri, Giorgia Coratti, Roberta Battini, Rachele Rossi, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Giovanni Baranello, Elena Pegoraro, Francesca Bovis, Nathalie Goemans, Adele D’ Amico, Alessandra Ferlini, Alice Donati, Enrico Bertini, Luca Bello, Simona Lucibello, Emilio Albamonte, Marcella Neri
The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee30573332bc60720ccd98a49ef9a6c6
http://hdl.handle.net/10807/182743
http://hdl.handle.net/10807/182743
Autor:
Mariacristina Scoto, Irene Mizzoni, John W. Day, Annemarie Rohwer, Eugenio Mercuri, Darryl C. De Vivo, Laura Antonaci, Richard S. Finkel, Tina Duong, Gian Luca Vita, Roberto De Sanctis, Jacqueline Montes, Evelin Milev, Adele DʼAmico, Giovanni Baranello, Giorgia Coratti, Marika Pane, Allan M. Glanzman, Emilio Albamonte, Elena S. Mazzone, Basil T. Darras, Enrico Bertini, Maria Sframeli, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Anna Lia Frongia, Francesca Bovis, Sonia Messina, Francesco Muntoni, Claudio Bruno, Valeria A. Sansone, Matthew Civitello
Ref: Different trajectories in upper limb and gross motor function in spinal muscular atrophy INTRODUCTION: The Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM) have been widely used in natural history stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dd54e69537baa86748b370c0fa960c
http://hdl.handle.net/11567/1072553
http://hdl.handle.net/11567/1072553
Autor:
Emanuela Viggiano, Enrica Rolle, Serena Bonfiglio, Elena S. Mazzone, Serena Sivo, Michele Sacchini, Maria Teresa Arnoldi, Tiziana Mongini, Gianluca Vita, Roberto De Sanctis, Filippo Cavallaro, Alessandra Graziano, Francesca Rossi, Enrico Bertini, Antonella Pini, Maria Pia Sormani, Concetta Palermo, Sonia Messina, Stefano C. Previtali, Yvan Torrente, Adelina Carlesi, Eugenio Mercuri, Valentina Lanzillotta, Maria Alice Donati, Lavinia Fanelli, Francesca Magri, Roberta Scalise, Giovanni Baranello, Paola D′Ambrosio, Elena Pegoraro, Claudio Bruno, Silvia Frosini, Adele D’ Amico, Luisa Politano, Marika Pane, Angela Berardinelli, Andrea Barp, Roberta Battini, Giacomo P. Comi
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0144079 (2015)
PLoS ONE
PLoS ONE
The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93387853e14d45f0e0133fd0b0c175a9
http://europepmc.org/articles/PMC4670221?pdf=render
http://europepmc.org/articles/PMC4670221?pdf=render
Publikováno v:
Pediatric Anesthesia. 15:611-615
Summary We present a case of a 16-month old previously healthy child who was hospitalized because of an acute respiratory insufficiency most likely caused by a viral infection and who then developed a severe acute quadriplegic myopathy (AQM). Initial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35c7b7992dd757e109883a5b36acc8d
https://doi.org/10.1111/j.1460-9592.2005.01491.x
https://doi.org/10.1111/j.1460-9592.2005.01491.x
Autor:
Luisa Politano, Serena Bonfiglio, Roberta Scalise, Michele Sacchini, Antonella Pini, Enrico Bertini, Filippo Cavallaro, Maria Teresa Arnoldi, Valentina Lanzillotta, Stefano C. Previtali, Marika Pane, Serena Sivo, Gianluca Vita, Roberto De Sanctis, Angela Berardinelli, Francesca Rossi, Roberta Battini, Andrea Barp, Elena S. Mazzone, Giacomo P. Comi, Tiziana Mongini, Emanuela Viggiano, Eugenio Mercuri, Enrica Rolle, Maria Alice Donati, Yvan Torrente, Alessandra Graziano, Adelina Carlesi, Concetta Palermo, Lavinia Fanelli, Francesca Magri, Sonia Messina, Paola D′Ambrosio, Elena Pegoraro, Giovanni Baranello, Maria Pia Sormani, Claudio Bruno, Silvia Frosini, Adele D’ Amico
Publikováno v:
PLoS ONE
PLoS ONE, Vol 9, Iss 10, p e108205 (2014)
PLoS ONE, Vol 9, Iss 10, p e108205 (2014)
The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83bf4ce620302ba84c2bc34bb501c1fb
http://europepmc.org/articles/PMC4182715
http://europepmc.org/articles/PMC4182715
Autor:
Antonella Pini, Stefano C. Previtali, Sara Napolitano, Filippo Cavallaro, Marika Pane, Roberta Battini, Angela Berardinelli, Sonia Messina, Roberta Scalise, M.A. Donati, Tiziana Mongini, Gianluca Vita, Luca Doglio, Elena Pegoraro, R. De Sanctis, E. Bertini, Yvan Torrente, Luca Bello, L. Politano, Serena Bonfiglio, G. Comi, Elena S. Mazzone, Flaviana Bianco, M. P. Sormani, Gessica Vasco, Claudio Bruno, Silvia Frosini, Eugenio Mercuri, Adele D’ Amico
Publikováno v:
Neuromuscular Disorders. 22:876
Six minute walk test (6MWT), timed items and North Star Ambulatory Assessment (NSAA) are increasingly used as possible outcome measures in clinical trials in Duchenne Muscular Dystrophy (DMD). Longitudinal data have previously been reported following
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0aff6e5d1947c6346ee2112b9cc2ec38
https://doi.org/10.1016/j.nmd.2012.06.243
https://doi.org/10.1016/j.nmd.2012.06.243
Autor:
F. Muntoni, Eugenio Mercuri, F. Bianco, Maria Elena Lombardo, Maria Carmela Pera, Valeria Ricotti, Mariacristina Scoto, Giovanni Baranello, Michela Quintiliani, G.D ′Angelo, Adele D’ Amico, Louise Hartley, Marika Pane, Angela Berardinelli, Lucia Morandi, Paolo Alfieri, Concetta Palermo, Roberta Scalise
Publikováno v:
Neuromuscular Disorders. 22:886
Cognitive abilities have been extensively studied in children and adults with Duchenne muscular dystrophy (DMD) but less has been reported on younger children. This is not surprising as the diagnosis of DMD remains at a mean age of 4 and 6 months. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73336861a879be1bdae1685f924de4d9
https://doi.org/10.1016/j.nmd.2012.06.274
https://doi.org/10.1016/j.nmd.2012.06.274
Autor:
Marina Scarpelli, Claudio Bruno, Stefania Petrini, Adele D’ Amico, Renata Boldrini, E. Bertini
Publikováno v:
Neuromuscular Disorders. 17:862
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::711b5b74f76e6ea2051c5669f21bf6bd
https://doi.org/10.1016/j.nmd.2007.06.335
https://doi.org/10.1016/j.nmd.2007.06.335