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3D stereophotogrammetric facial analysis of SMAII patients

Autor: Pucciarelli, Valentina, Mastella, Chiara, Bertoli, Simona, Alberti, Katia, De Amicis, Ramona, Battezzati, Alberto, Baranello, Giovanni, Sforza, Chiarella

Spinal muscular atrophy (SMA) is a rare neurodegenerative disease, due to autosomal recessive mutations on SMN1 gene. It is clinically classified into 4 phenotypes (SMAI-SMAIV) and it is characterized by muscular weakness and atrophy of the voluntary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6cf98fbe8a14f0230a66a826aa2f504a

Reply to Chacko : Limited Assessment of Respiratory Muscle Response to Nusinersen Treatment in Infants with Spinal Muscular Atrophy.

Autor: LoMauro, Antonella, Mastella, Chiara, Alberti, Katia, Masson, Riccardo, Aliverti, Andrea, Baranello, Giovanni

Publikováno v: American Journal of Respiratory & Critical Care Medicine; 3/1/2020, Vol. 201 Issue 5, p624-626, 3p

Reply to Chacko et al. : Limited Assessment of Respiratory Muscle Response to Nusinersen Treatment in Infants with Spinal Muscular Atrophy.

Autor: LoMauro A; Politecnico di MilanoMilan, Italy., Mastella C; Fondazione IRCCS Cà' Granda Ospedale Maggiore PoliclinicoMilan, Italy., Alberti K; Fondazione IRCCS Cà' Granda Ospedale Maggiore PoliclinicoMilan, Italy., Masson R; Fondazione IRCCS Istituto Neurologico Carlo BestaMilan, Italyand., Aliverti A; Politecnico di MilanoMilan, Italy., Baranello G; Fondazione IRCCS Istituto Neurologico Carlo BestaMilan, Italyand.; UCL Great Ormond Street Institute of Child Health LondonLondon, United Kingdom.

Publikováno v: American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2020 Mar 01; Vol. 201 (5), pp. 624-626.